ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.3943_3944dup (p.Gly1316fs)

dbSNP: rs2104563446
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001537072 SCV001753900 pathogenic not provided 2019-07-01 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge

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