ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.1813C>T (p.Gln605Ter) (rs1553889992)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671523 SCV000796507 pathogenic Ellis-van Creveld syndrome 2017-12-27 criteria provided, single submitter clinical testing

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