ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.2086-13_2086-12del

dbSNP: rs5837121
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000602186 SCV000730981 benign not specified 2018-02-16 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 RCV002060625 SCV002411146 benign Ehlers-Danlos syndrome, classic type, 1 2025-02-02 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000602186 SCV001809010 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000602186 SCV001930200 benign not specified no assertion criteria provided clinical testing

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