ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.759A>G (p.Ser253=)

gnomAD frequency: 0.00009  dbSNP: rs201105095
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000878026 SCV001020866 likely benign Ellis-van Creveld syndrome; Curry-Hall syndrome 2024-01-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003432857 SCV004147608 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing EVC: BP4, BP7
Natera, Inc. RCV001825776 SCV002083019 likely benign Ellis-van Creveld syndrome 2020-01-17 no assertion criteria provided clinical testing

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