ClinVar Miner

Submissions for variant NM_153816.6(SNX14):c.1809A>G (p.Ala603=)

dbSNP: rs1582696313
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000984899 SCV001525499 uncertain significance Autosomal recessive spinocerebellar ataxia 20 2020-01-20 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV002290495 SCV002578795 uncertain significance not provided 2022-10-03 criteria provided, single submitter clinical testing Not observed in large population cohorts (gnomAD); In silico analysis supports a deleterious effect on splicing; Has not been previously published as pathogenic or benign to our knowledge
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV000984899 SCV001132801 uncertain significance Autosomal recessive spinocerebellar ataxia 20 2019-01-29 no assertion criteria provided clinical testing

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