ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.322+18C>G

gnomAD frequency: 0.00042  dbSNP: rs201708256
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000423090 SCV000528629 likely benign not specified 2016-06-13 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 RCV002063364 SCV002449137 benign Ehlers-Danlos syndrome, classic type, 1 2024-11-21 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003758773 SCV004565306 benign Ehlers-Danlos syndrome, classic type, 2 2023-08-07 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000423090 SCV005185569 benign not specified 2024-05-20 criteria provided, single submitter clinical testing

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