ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.2412C>T (p.His804=)

gnomAD frequency: 0.00004  dbSNP: rs553232598
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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 RCV000910395 SCV001055259 likely benign Ellis-van Creveld syndrome; Curry-Hall syndrome 2023-10-17 criteria provided, single submitter clinical testing
Natera, Inc. RCV001832050 SCV002083056 likely benign Ellis-van Creveld syndrome 2020-02-02 no assertion criteria provided clinical testing

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