ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.2289C>T (p.Asp763=)

dbSNP: rs2152346031
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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 RCV001399504 SCV001601294 likely benign Ellis-van Creveld syndrome; Curry-Hall syndrome 2023-08-17 criteria provided, single submitter clinical testing

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