ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.2409_2419del (p.Gln804fs)

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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 RCV005027364 SCV005658248 likely pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2024-04-08 criteria provided, single submitter clinical testing

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