ClinVar Miner

Submissions for variant NM_080632.3(UPF3B):c.646_647del (p.Glu216fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Service de Génétique Moléculaire, Hôpital Robert Debré RCV001270413 SCV001450699 likely pathogenic Syndromic X-linked intellectual disability 14 2020-07-24 no assertion criteria provided clinical testing

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