ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.4120A>G (p.Lys1374Glu)

gnomAD frequency: 0.00001  dbSNP: rs756823072
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000516516 SCV000615187 uncertain significance not specified 2017-05-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002527524 SCV003515097 likely benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2022-03-05 criteria provided, single submitter clinical testing

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