ClinVar Miner

Submissions for variant NM_153816.6(SNX14):c.1725del (p.Phe575fs)

dbSNP: rs1311909367
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV000984947 SCV001132861 likely pathogenic Autosomal recessive spinocerebellar ataxia 20 2019-01-29 no assertion criteria provided clinical testing

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