ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.567+17G>T

gnomAD frequency: 0.00006  dbSNP: rs780672109
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000436444 SCV000512713 likely benign not specified 2016-12-21 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 RCV000659470 SCV000781285 likely benign Connective tissue disorder 2016-11-01 criteria provided, single submitter clinical testing
Invitae RCV002061366 SCV002340706 benign Ehlers-Danlos syndrome, classic type, 1 2024-01-29 criteria provided, single submitter clinical testing

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