ClinVar Miner

Submissions for variant NM_020461.4(TUBGCP6):c.1851C>T (p.Ser617=)

gnomAD frequency: 0.00006  dbSNP: rs375913178
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000921714 SCV001067126 likely benign not provided 2023-09-20 criteria provided, single submitter clinical testing
GeneDx RCV000921714 SCV002762567 uncertain significance not provided 2022-06-09 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes splice predictors and evolutionary conservation, suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.

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