ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.3201+14C>T

gnomAD frequency: 0.00005  dbSNP: rs368713290
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000251120 SCV000303995 likely benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000386180 SCV000425627 uncertain significance Ehlers-Danlos syndrome type 7A 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000251120 SCV000512723 likely benign not specified 2017-12-06 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.
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000659483 SCV000781298 uncertain significance Connective tissue disorder 2016-11-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002057350 SCV002338100 likely benign Ehlers-Danlos syndrome, classic type, 1 2023-12-22 criteria provided, single submitter clinical testing

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