ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.895C>T (p.Arg299Cys)

gnomAD frequency: 0.00002  dbSNP: rs777182592
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Cologne University RCV001263157 SCV001441240 uncertain significance Amyotrophic lateral sclerosis type 4 2020-09-30 criteria provided, single submitter research
Invitae RCV002530626 SCV003006745 likely benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2023-04-28 criteria provided, single submitter clinical testing
Institute of Human Genetics, Cologne University RCV000664255 SCV000787824 uncertain significance Distal spinal muscular atrophy 2018-04-26 no assertion criteria provided clinical testing

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