ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.1980G>A (p.Thr660=)

gnomAD frequency: 0.00006  dbSNP: rs537471996
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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 RCV000911617 SCV001056691 likely benign Ellis-van Creveld syndrome; Curry-Hall syndrome 2023-08-16 criteria provided, single submitter clinical testing
Natera, Inc. RCV001832051 SCV002083047 likely benign Ellis-van Creveld syndrome 2020-02-03 no assertion criteria provided clinical testing

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