ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.998A>G (p.Asn333Ser)

gnomAD frequency: 0.00001  dbSNP: rs538829833
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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 RCV001977566 SCV002264209 benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2024-01-04 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002074446 SCV002498064 uncertain significance not provided 2022-03-01 criteria provided, single submitter clinical testing SETX: PM2, BP4
Genome-Nilou Lab RCV003234147 SCV003931564 uncertain significance Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003234148 SCV003931565 uncertain significance Amyotrophic lateral sclerosis type 4 2023-02-08 criteria provided, single submitter clinical testing

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