ClinVar Miner

Submissions for variant NM_005585.5(SMAD6):c.1084C>T (p.Gln362Ter)

dbSNP: rs1894556452
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001090839 SCV001246587 pathogenic not provided 2018-08-01 criteria provided, single submitter clinical testing
GeneDx RCV001090839 SCV002005671 uncertain significance not provided 2019-10-30 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); Nonsense variant predicted to result in protein truncation, although loss-of-function is not a known mechanism of disease for this gene; Has not been previously published as pathogenic or benign to our knowledge

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