ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.1892C>T (p.Thr631Met)

gnomAD frequency: 0.00041  dbSNP: rs139481521
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000343430 SCV000335042 uncertain significance not provided 2015-09-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001327716 SCV001518802 likely benign Ellis-van Creveld syndrome; Curry-Hall syndrome 2024-11-16 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001327716 SCV005662712 uncertain significance Ellis-van Creveld syndrome; Curry-Hall syndrome 2024-01-19 criteria provided, single submitter clinical testing
Natera, Inc. RCV001828192 SCV002083045 uncertain significance Ellis-van Creveld syndrome 2019-10-28 no assertion criteria provided clinical testing

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