ClinVar Miner

Submissions for variant NM_153816.6(SNX14):c.119C>T (p.Ala40Val)

dbSNP: rs1803676386
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001333017 SCV001525496 uncertain significance Autosomal recessive spinocerebellar ataxia 20 2019-10-24 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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