ClinVar Miner

Submissions for variant NM_001172509.2(SATB2):c.1298A>C (p.Tyr433Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital RCV001249671 SCV001423677 likely pathogenic Chromosome 2q32-q33 deletion syndrome 2017-09-22 criteria provided, single submitter clinical testing [ACMG/AMP: PS2, PM1, PM2, PP2] This alteration is de novo in origin as it was not detected in the submitted parental specimens (identity confirmed) [PS2], is located in a mutational hotspot and/or critical and well-established functional domain [PM1], 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].

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