ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.2017_2021del (p.Thr673fs)

dbSNP: rs2108843144
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV001844342 SCV001870465 pathogenic Ellis-van Creveld syndrome 2021-04-29 no assertion criteria provided research

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