ClinVar Miner

Submissions for variant NM_003336.4(UBE2A):c.373del (p.Gln125fs) (rs1556244406)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals RCV000677425 SCV000803732 likely pathogenic Syndromic mental retardation, Nascimento type, X-linked 2018-05-24 no assertion criteria provided clinical testing

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