ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.1228C>T (p.Arg410Trp)

gnomAD frequency: 0.00005  dbSNP: rs745360062
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001766660 SCV000941298 benign Ehlers-Danlos syndrome, classic type, 1 2024-11-26 criteria provided, single submitter clinical testing
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003238226 SCV002010265 likely benign not provided 2021-11-03 criteria provided, single submitter clinical testing

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