ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.2707A>G (p.Ile903Val)

gnomAD frequency: 0.00093  dbSNP: rs143678893
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000878661 SCV001021599 benign Ellis-van Creveld syndrome; Curry-Hall syndrome 2024-01-18 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001731968 SCV001472058 uncertain significance not provided 2019-11-20 criteria provided, single submitter clinical testing
GeneDx RCV001731968 SCV001982804 uncertain significance not provided 2021-10-14 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
Natera, Inc. RCV001271213 SCV001452205 uncertain significance Ellis-van Creveld syndrome 2019-11-22 no assertion criteria provided clinical testing

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