ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.1404G>A (p.Glu468=)

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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 RCV003794183 SCV004584717 likely benign Ellis-van Creveld syndrome; Curry-Hall syndrome 2023-05-11 criteria provided, single submitter clinical testing

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