ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.5712A>G (p.Arg1904=)

gnomAD frequency: 0.00006  dbSNP: rs750372437
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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 RCV000992946 SCV001145563 likely benign not provided 2019-08-02 criteria provided, single submitter clinical testing
Invitae RCV002549819 SCV003244909 benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2022-05-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003233902 SCV003931306 likely benign Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003233903 SCV003931307 likely benign Amyotrophic lateral sclerosis type 4 2023-02-08 criteria provided, single submitter clinical testing

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