ClinVar Miner

Submissions for variant NM_022464.5(SIL1):c.1017G>C (p.Leu339=)

dbSNP: rs769587333
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000399048 SCV000453101 uncertain significance Marinesco-Sjögren syndrome 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001770278 SCV001994116 uncertain significance not provided 2019-07-05 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes splice predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV000399048 SCV004354828 likely benign Marinesco-Sjögren syndrome 2022-11-17 criteria provided, single submitter clinical testing

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