ClinVar Miner

Submissions for variant NM_001378452.1(ITPR1):c.800C>G (p.Thr267Arg)

dbSNP: rs797044955
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000712030 SCV000842443 likely pathogenic not provided 2018-02-15 criteria provided, single submitter clinical testing
Mendelics RCV002249433 SCV002516581 pathogenic Spinocerebellar ataxia type 29 2022-05-04 criteria provided, single submitter clinical testing

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