ClinVar Miner

Submissions for variant NM_014889.4(PITRM1):c.2236-1dup

dbSNP: rs2132393459
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
IRCCS Fondazione Stella Maris, University of Pisa RCV001449674 SCV001652909 pathogenic Infantile onset spinocerebellar ataxia 2018-05-27 no assertion criteria provided clinical testing

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