ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.1540G>A (p.Glu514Lys)

gnomAD frequency: 0.00042  dbSNP: rs141896077
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000260082 SCV000335049 uncertain significance not provided 2015-09-28 criteria provided, single submitter clinical testing
Invitae RCV001303664 SCV001492915 likely benign Ellis-van Creveld syndrome; Curry-Hall syndrome 2024-01-18 criteria provided, single submitter clinical testing
Natera, Inc. RCV001828193 SCV002083033 uncertain significance Ellis-van Creveld syndrome 2019-10-28 no assertion criteria provided clinical testing

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