ClinVar Miner

Submissions for variant NM_020320.5(RARS2):c.407T>C (p.Val136Ala)

dbSNP: rs1057519014
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001764348 SCV001997967 uncertain significance not provided 2021-05-07 criteria provided, single submitter clinical testing Not observed at a significant frequency 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
Mendelics RCV002248649 SCV002518961 pathogenic Pontocerebellar hypoplasia type 6 2022-05-04 criteria provided, single submitter clinical testing
Laboratory of Molecular Genetics, CHU RENNES RCV000414873 SCV000493112 uncertain significance Severe intellectual deficiency no assertion criteria provided clinical testing

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