ClinVar Miner

Submissions for variant NM_001301130.2(POLR2F):c.293+6619del (rs1555937390)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000599033 SCV000710294 pathogenic not provided 2018-01-02 criteria provided, single submitter clinical testing The c.1107delC variant in the SOX10 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.1107delC variant causes a frameshift, changing codon Tyrosine 369 to a premature Stop codon, denoted p.Tyr369Ter. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.1107delC variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.1107delC as a pathogenic variant.
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000660287 SCV000782312 likely pathogenic Waardenburg syndrome type 4C 2016-11-01 criteria provided, single submitter clinical testing

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