ClinVar Miner

Submissions for variant NM_024665.6(TBL1XR1):c.689C>T (p.Ser230Phe) (rs1553815393)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000622639 SCV000741432 uncertain significance Inborn genetic diseases 2016-04-20 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: UNCERTAIN: Alteration(s) of Uncertain Clinical Significance Detected
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital RCV001249695 SCV001423691 likely pathogenic Pierpont syndrome; Mental retardation, autosomal dominant 41 2018-01-15 criteria provided, single submitter clinical testing [ACMG/AMP: PS2, PM2, PP2, PP3] This alteration is de novo in origin as it was not detected in the submitted parental specimens (identity confirmed) [PS2], is absent from or rarely observed in large-scale population databases [PM2], is a missense variant in a gene in which missense variants are a common mechanism of disease [PP2], is predicted to be damaging by multiple functional prediction tools [PP3].

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