ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.11dup (p.Thr5fs)

dbSNP: rs1596233685
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001008422 SCV001168191 likely pathogenic not provided 2021-01-07 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed in large population cohorts (Lek et al., 2016); Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease

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