ClinVar Miner

Submissions for variant NM_020732.3(ARID1B):c.5722C>T (p.Gln1908Ter) (rs1554237606)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000523006 SCV000620921 pathogenic not provided 2017-09-25 criteria provided, single submitter clinical testing The Q1908X variant in the ARID1B gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function through protein truncation. The Q1908X variant is not observed in large population cohorts (Lek et al., 2016). We interpret Q1908X as a pathogenic variant.

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