NC_000009.12:g.35657948_35657949del AND Metaphyseal chondrodysplasia, McKusick type

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 19, 2017
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:: RCV000670085.1

Allele description [Variation Report for NC_000009.12:g.35657948_35657949del]

NC_000009.12:g.35657948_35657949del

Gene:

RMRP:RNA component of mitochondrial RNA processing endoribonuclease [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

9p13.3

Genomic location:

Preferred name:

NC_000009.12:g.35657948_35657949del

HGVS:

NC_000009.12:g.35657948_35657949del
NG_017041.1:g.5070_5071del
NG_033120.1:g.4659_4660del
NG_116211.1:g.484_485del
LRG_163t1:n.70_71del
LRG_163:g.5070_5071del
NC_000009.11:g.35657945_35657946del
NR_003051.3:n.70_71del
NR_003051.4:n.71_72delGA

Links:

dbSNP: rs1491544612

NCBI 1000 Genomes Browser:

rs1491544612

Condition(s)

Name:: Metaphyseal chondrodysplasia, McKusick type (CHH)
Synonyms:: Cartilage-Hair Hypoplasia
Identifiers:: MONDO: MONDO:0009595; MedGen: C0220748; Orphanet: 175; OMIM: 250250

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000794901	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Uncertain significance (Oct 19, 2017)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000794901

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))

Uncertain significance
(Oct 19, 2017)

unknown

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Counsyl, SCV000794901.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 8, 2024

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