ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.1563+11T>A

gnomAD frequency: 0.00003  dbSNP: rs1014470434
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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 RCV002128217 SCV002450712 likely benign Ellis-van Creveld syndrome; Curry-Hall syndrome 2023-12-14 criteria provided, single submitter clinical testing

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