ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.1776+7del

dbSNP: rs540001390
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 RCV000950338 SCV001096641 likely benign Ellis-van Creveld syndrome; Curry-Hall syndrome 2024-03-24 criteria provided, single submitter clinical testing
Natera, Inc. RCV001271206 SCV001452196 uncertain significance Ellis-van Creveld syndrome 2020-03-11 no assertion criteria provided clinical testing

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