ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.7735G>T (p.Val2579Phe)

dbSNP: rs144121978
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV001509371 SCV001716035 uncertain significance not provided 2019-11-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001865960 SCV002255507 benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2022-10-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002568009 SCV003526946 uncertain significance Inborn genetic diseases 2023-04-03 criteria provided, single submitter clinical testing Unlikely to be causative of SETX-related juvenile amyotrophic lateral sclerosis (AD) Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV001509371 SCV003827522 uncertain significance not provided 2021-09-01 criteria provided, single submitter clinical testing

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