ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.5910C>T (p.Phe1970=)

gnomAD frequency: 0.00212  dbSNP: rs141290741
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000180044 SCV000232403 likely benign not specified 2015-02-24 criteria provided, single submitter clinical testing
GeneDx RCV000180044 SCV000512741 benign not specified 2015-03-25 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000888438 SCV001032073 benign not provided 2025-01-29 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001148930 SCV001309851 benign Epidermolysis bullosa dystrophica 2017-05-03 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
CeGaT Center for Human Genetics Tuebingen RCV000888438 SCV004154475 likely benign not provided 2025-02-01 criteria provided, single submitter clinical testing COL7A1: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics RCV000888438 SCV005261345 likely benign not provided criteria provided, single submitter not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000888438 SCV001808711 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000180044 SCV001959452 benign not specified no assertion criteria provided clinical testing

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