ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.3796T>C (p.Leu1266=)

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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 RCV003800949 SCV004592631 likely benign Ellis-van Creveld syndrome; Curry-Hall syndrome 2023-03-14 criteria provided, single submitter clinical testing

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