ClinVar Miner

Submissions for variant NM_001195248.2(APTX):c.697A>T (p.Lys233Ter)

dbSNP: rs1114167423
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Snyder Lab, Genetics Department, Stanford University RCV000490800 SCV000576420 pathogenic Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia no assertion criteria provided clinical testing

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