ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.1464+5C>T

gnomAD frequency: 0.00120  dbSNP: rs369734950
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000945597 SCV001091633 likely benign Ellis-van Creveld syndrome; Curry-Hall syndrome 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001564342 SCV001787496 likely benign not provided 2021-03-08 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001564342 SCV004564318 likely benign not provided 2023-02-10 criteria provided, single submitter clinical testing
Natera, Inc. RCV001273622 SCV001456827 likely benign Ellis-van Creveld syndrome 2020-09-16 no assertion criteria provided clinical testing

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