ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.2895-4T>C

gnomAD frequency: 0.00008  dbSNP: rs775049818
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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 RCV000900099 SCV001044402 likely benign Ellis-van Creveld syndrome; Curry-Hall syndrome 2024-11-13 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001002586 SCV001160559 likely benign not specified 2019-03-28 criteria provided, single submitter clinical testing

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