ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.5839G>A (p.Ala1947Thr)

gnomAD frequency: 0.00001  dbSNP: rs141440621
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University RCV001095430 SCV001251012 uncertain significance Amyotrophic lateral sclerosis type 4 2020-03-31 criteria provided, single submitter research
Invitae RCV001211387 SCV001382925 benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2022-12-06 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003233947 SCV003931292 uncertain significance Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001095430 SCV003931293 uncertain significance Amyotrophic lateral sclerosis type 4 2023-02-08 criteria provided, single submitter clinical testing

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