ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.2649C>T (p.Val883=)

gnomAD frequency: 0.00003  dbSNP: rs1483799016
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 RCV001400713 SCV001602520 likely benign Ellis-van Creveld syndrome; Curry-Hall syndrome 2023-05-25 criteria provided, single submitter clinical testing
Natera, Inc. RCV001832268 SCV002083059 likely benign Ellis-van Creveld syndrome 2021-01-06 no assertion criteria provided clinical testing

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