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GRCh37/hg19 7p22.3(chr7:2606751-2641098) AND Polydactyly, postaxial, type a7

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
May 26, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV003236741.1

Allele description [Variation Report for GRCh37/hg19 7p22.3(chr7:2606751-2641098)]

GRCh37/hg19 7p22.3(chr7:2606751-2641098)

Gene:
IQCE:IQ motif containing E [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
7p22.3
Genomic location:
Chr7: 2606751 - 2641098 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 7p22.3(chr7:2606751-2641098)

Condition(s)

Name:
Polydactyly, postaxial, type a7
Identifiers:
MONDO: MONDO:0060550; MedGen: C4539976; OMIM: 617642

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003935240Laboratory of Medical Genetics, National & Kapodistrian University of Athens
criteria provided, single submitter

(ACMG/ClinGen CNV Guidelines, 2019)		Likely pathogenic
(May 26, 2023) 		maternalclinical testing

PubMed (1)
[See all records that cite this PMID]

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen).

Riggs ER, Andersen EF, Cherry AM, Kantarci S, Kearney H, Patel A, Raca G, Ritter DI, South ST, Thorland EC, Pineda-Alvarez D, Aradhya S, Martin CL.

Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6. Erratum in: Genet Med. 2021 Nov;23(11):2230. doi: 10.1038/s41436-021-01150-9.

PubMed [citation]
PMID:
31690835
PMCID:
PMC7313390

Details of each submission

From Laboratory of Medical Genetics, National & Kapodistrian University of Athens, SCV003935240.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 1, 2023