ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.77C>T (p.Ala26Val)

gnomAD frequency: 0.00011  dbSNP: rs1035520087
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001843623 SCV002102676 uncertain significance not provided 2022-03-02 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV002543272 SCV003262270 likely benign Ellis-van Creveld syndrome; Curry-Hall syndrome 2025-01-06 criteria provided, single submitter clinical testing

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