ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.1062C>T (p.Asp354=)

gnomAD frequency: 0.00634  dbSNP: rs61737708
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000124485 SCV000167918 benign not specified 2014-05-14 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.
PreventionGenetics, part of Exact Sciences RCV000124485 SCV000302130 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000369207 SCV000478519 likely benign Ehlers-Danlos syndrome type 7A 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000461997 SCV000559972 benign Ehlers-Danlos syndrome, classic type, 1 2025-01-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV002312850 SCV000738602 benign Familial thoracic aortic aneurysm and aortic dissection 2016-06-15 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Genome-Nilou Lab RCV000461997 SCV002554060 benign Ehlers-Danlos syndrome, classic type, 1 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002269922 SCV002554061 benign Fibromuscular dysplasia, multifocal 2022-03-15 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000124485 SCV004029864 benign not specified 2023-07-21 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004706566 SCV005228025 likely benign not provided criteria provided, single submitter not provided

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