ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.451-7del

gnomAD frequency: 0.00001  dbSNP: rs1290670058
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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 RCV000508508 SCV000603503 likely benign not specified 2016-09-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003766878 SCV004608595 likely benign Ellis-van Creveld syndrome; Curry-Hall syndrome 2024-10-31 criteria provided, single submitter clinical testing

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