ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.1239G>C (p.Leu413=)

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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 RCV003791393 SCV004584553 likely benign Ellis-van Creveld syndrome; Curry-Hall syndrome 2024-01-08 criteria provided, single submitter clinical testing

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