ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.2079C>T (p.Val693=)

gnomAD frequency: 0.00006  dbSNP: rs201171209
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001812279 SCV001470829 likely benign not provided 2019-10-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001470251 SCV001674346 likely benign Ellis-van Creveld syndrome; Curry-Hall syndrome 2024-02-18 criteria provided, single submitter clinical testing

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