ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.510C>T (p.Asp170=)

gnomAD frequency: 0.00001  dbSNP: rs757930422
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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 RCV000922812 SCV001068256 likely benign Ellis-van Creveld syndrome; Curry-Hall syndrome 2024-01-15 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276225 SCV001462218 likely benign Ellis-van Creveld syndrome 2020-04-21 no assertion criteria provided clinical testing

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