ClinVar Miner

Submissions for variant NM_152383.5(DIS3L2):c.2379_2380GC[1] (p.Arg794fs) (rs1553551874)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Donald Williams Parsons Laboratory,Baylor College of Medicine RCV000505630 SCV000599936 likely pathogenic Nephroblastoma 2014-01-30 no assertion criteria provided research This frameshift variant is categorized as deleterious according to ACMG guidelines (PMID:18414213). It was found once in our study paternally inherited in a 5-year-old female with Wilms tumor; the tumor showed LOH in this region. The patient also had paternally inherited heterozygous loss-of-function variants in CHEK2 and FANCC.

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