ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.2134-11G>C

gnomAD frequency: 0.00009  dbSNP: rs369317619
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000195428 SCV000249744 benign not specified 2014-12-24 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 RCV000195428 SCV000302158 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002054285 SCV002476588 benign Ehlers-Danlos syndrome, classic type, 1 2024-12-23 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002054285 SCV002554149 benign Ehlers-Danlos syndrome, classic type, 1 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002269984 SCV002554150 benign Fibromuscular dysplasia, multifocal 2022-03-15 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003114349 SCV003800396 likely benign not provided 2022-02-28 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000195428 SCV004038867 benign not specified 2023-08-10 criteria provided, single submitter clinical testing

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