ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.1710+14C>A

dbSNP: rs755278587
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000253526 SCV000316120 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005209497 SCV005850295 likely benign Ellis-van Creveld syndrome; Curry-Hall syndrome 2024-02-16 criteria provided, single submitter clinical testing

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