ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.4476TCC[1] (p.Pro1494del)

dbSNP: rs1838936100
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002240161 SCV001207454 pathogenic Ehlers-Danlos syndrome, classic type, 1 2021-09-02 criteria provided, single submitter clinical testing

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