ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.2254A>G (p.Thr752Ala)

gnomAD frequency: 0.00001  dbSNP: rs745938575
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000644812 SCV000766527 benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2022-12-06 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV002473087 SCV002771080 uncertain significance not provided 2021-08-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003233769 SCV003931508 uncertain significance Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003233770 SCV003931509 uncertain significance Amyotrophic lateral sclerosis type 4 2023-02-08 criteria provided, single submitter clinical testing

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