ClinVar Miner

Submissions for variant NM_024426.6(WT1):c.911C>T (p.Ser304Phe) (rs267602852)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000735857 SCV000787754 likely pathogenic Frasier syndrome 2018-07-18 no assertion criteria provided clinical testing The observed variant c.896C>T (p.Ser299Phe) has not been reported in the 1000 Genomes and ExAC databases. The in silico predictions of the variant are damaging by MutationTaster2 and SIFT, and probably damaging by PolyPhen2.

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