ClinVar Miner

Submissions for variant NM_020461.4(TUBGCP6):c.2240C>T (p.Ser747Phe)

dbSNP: rs2147184677
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001760905 SCV001991563 uncertain significance not provided 2019-08-14 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge

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