ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.6486A>G (p.Leu2162=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003334314 SCV004042370 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing SETX: BP4, BP7
Labcorp Genetics (formerly Invitae), Labcorp RCV003777419 SCV004578688 likely benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2024-01-26 criteria provided, single submitter clinical testing

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