ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.3505A>G (p.Met1169Val)

gnomAD frequency: 0.00012  dbSNP: rs573849874
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001371621 SCV001568192 benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2023-07-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002070244 SCV002498062 likely benign not provided 2022-03-01 criteria provided, single submitter clinical testing SETX: BP4

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