ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.7972A>G (p.Arg2658Gly)

gnomAD frequency: 0.00001  dbSNP: rs779793402
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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 RCV001243506 SCV001416672 benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2022-10-17 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001509369 SCV001716033 uncertain significance not provided 2020-03-11 criteria provided, single submitter clinical testing

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