ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.3026C>T (p.Ser1009Phe)

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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 RCV002885491 SCV003241875 benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2022-08-10 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV004790264 SCV005410856 uncertain significance not provided 2024-06-05 criteria provided, single submitter clinical testing

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