ClinVar Miner

Submissions for variant NM_153816.6(SNX14):c.2447G>A (p.Arg816Gln)

dbSNP: rs936843937
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000662090 SCV000784429 uncertain significance Autosomal recessive spinocerebellar ataxia 20 2018-03-05 criteria provided, single submitter clinical testing

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