NM_002618.4(PEX13):c.914-30A>G AND not provided

Germline classification:: Likely benign (1 submission)
Last evaluated:: Feb 7, 2018
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000676172.5

Allele description [Variation Report for NM_002618.4(PEX13):c.914-30A>G]

NM_002618.4(PEX13):c.914-30A>G

Gene:

PEX13:peroxisomal biogenesis factor 13 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p15

Genomic location:

Preferred name:

NM_002618.4(PEX13):c.914-30A>G

HGVS:

NC_000002.12:g.61048442A>G
NG_008665.1:g.35766A>G
NM_002618.4:c.914-30A>GMANE SELECT
NC_000002.11:g.61275577A>G
NM_002618.3:c.914-30A>G

Links:

dbSNP: rs1553425139

NCBI 1000 Genomes Browser:

rs1553425139

Molecular consequence:

NM_002618.4:c.914-30A>G - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000801923	Mayo Clinic Laboratories, Mayo Clinic	no assertion criteria provided	Likely benign (Feb 7, 2018)	unknown	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000801923

Mayo Clinic Laboratories, Mayo Clinic

no assertion criteria provided

Likely benign
(Feb 7, 2018)

unknown

clinical testing

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 Mayo Clinic Laboratories, Mayo Clinic, SCV000801923.1

#	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: Jun 10, 2023

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