ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.90_91insT (p.Ala31fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005039163 SCV005658289 likely pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2024-03-24 criteria provided, single submitter clinical testing

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