ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.267A>C (p.Ile89=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003792232 SCV004588446 likely benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2023-08-10 criteria provided, single submitter clinical testing

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