ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.2394_2395delinsAC (p.Asp799His)

dbSNP: rs1577169974
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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 RCV000945503 SCV001091525 benign Ellis-van Creveld syndrome; Curry-Hall syndrome 2024-01-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001811544 SCV002058050 benign not provided 2020-12-16 criteria provided, single submitter clinical testing

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