ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.5278G>A (p.Ala1760Thr)

gnomAD frequency: 0.00002  dbSNP: rs764316153
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000992941 SCV001145557 uncertain significance not provided 2018-11-14 criteria provided, single submitter clinical testing
Invitae RCV001858763 SCV002117692 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 RCV003233898 SCV003931339 uncertain significance Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003233899 SCV003931340 uncertain significance Amyotrophic lateral sclerosis type 4 2023-02-08 criteria provided, single submitter clinical testing

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