ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.1854C>A (p.Gly618=)

dbSNP: rs11737221
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000887520 SCV001031077 likely benign Ellis-van Creveld syndrome; Curry-Hall syndrome 2023-12-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV001835998 SCV002083042 likely benign Ellis-van Creveld syndrome 2020-10-08 no assertion criteria provided clinical testing

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