ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.1602C>T (p.Phe534=)

gnomAD frequency: 0.00001  dbSNP: rs766294209
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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 RCV001427866 SCV001630554 likely benign Ellis-van Creveld syndrome; Curry-Hall syndrome 2021-12-17 criteria provided, single submitter clinical testing
Natera, Inc. RCV001273623 SCV001456829 likely benign Ellis-van Creveld syndrome 2020-09-16 no assertion criteria provided clinical testing

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