ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.1176T>C (p.Asp392=)

dbSNP: rs1577195366
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002187360 SCV002350694 likely benign Ellis-van Creveld syndrome; Curry-Hall syndrome 2022-08-20 criteria provided, single submitter clinical testing

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