ClinVar Miner

Submissions for variant NM_001378452.1(ITPR1):c.722G>A (p.Arg241Lys)

dbSNP: rs2125159664
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris RCV001647136 SCV001519141 pathogenic Spinocerebellar ataxia type 29 2021-01-04 criteria provided, single submitter research
MGZ Medical Genetics Center RCV001647136 SCV002580984 likely pathogenic Spinocerebellar ataxia type 29 2022-03-02 criteria provided, single submitter clinical testing

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