ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.2335G>A (p.Val779Ile)

dbSNP: rs376396220
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001245810 SCV001419121 likely benign Ellis-van Creveld syndrome; Curry-Hall syndrome 2024-10-28 criteria provided, single submitter clinical testing
Natera, Inc. RCV001835249 SCV002083053 uncertain significance Ellis-van Creveld syndrome 2020-04-21 no assertion criteria provided clinical testing

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