ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.2868C>T (p.Ser956=)

gnomAD frequency: 0.00006  dbSNP: rs757526901
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 RCV001394020 SCV001595699 likely benign Ellis-van Creveld syndrome; Curry-Hall syndrome 2023-12-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV001831408 SCV002083066 likely benign Ellis-van Creveld syndrome 2021-06-15 no assertion criteria provided clinical testing

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