ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.4374C>T (p.Val1458=)

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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 RCV003797059 SCV004586122 benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2023-08-17 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003994589 SCV004813071 likely benign not specified 2024-02-19 criteria provided, single submitter clinical testing

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