ClinVar Miner

Submissions for variant NM_153816.6(SNX14):c.1707_1708insTTTTTTTTTTT (p.Pro570fs)

dbSNP: rs1057519561
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000416984 SCV000494578 pathogenic Autosomal recessive spinocerebellar ataxia 20 2017-01-12 criteria provided, single submitter research

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