ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.4087C>T (p.Arg1363Ter)

gnomAD frequency: 0.00001  dbSNP: rs121434376
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000622386 SCV000742071 pathogenic Inborn genetic diseases 2016-12-16 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV002247241 SCV002520041 pathogenic not provided 2021-12-27 criteria provided, single submitter clinical testing PP1, PM2, PM3, PS3, PVS1
Genome-Nilou Lab RCV000002374 SCV003931399 pathogenic Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2023-02-08 criteria provided, single submitter clinical testing
OMIM RCV000002374 SCV000022532 pathogenic Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2004-03-01 no assertion criteria provided literature only

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