ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.5781+10G>A

gnomAD frequency: 0.00159  dbSNP: rs537414669
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000559235 SCV000645274 benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2023-11-10 criteria provided, single submitter clinical testing
Athena Diagnostics RCV001288411 SCV001475492 benign not specified 2020-02-20 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003233727 SCV003931302 benign Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003233728 SCV003931303 benign Amyotrophic lateral sclerosis type 4 2023-02-08 criteria provided, single submitter clinical testing

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