ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.162C>T (p.Arg54=)

dbSNP: rs1305323625
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000945392 SCV001091400 benign Ellis-van Creveld syndrome; Curry-Hall syndrome 2024-01-25 criteria provided, single submitter clinical testing
Natera, Inc. RCV001827036 SCV002083011 likely benign Ellis-van Creveld syndrome 2019-10-24 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003960566 SCV004779667 benign EVC-related disorder 2019-09-05 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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