ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.1771A>G (p.Ile591Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV002474452 SCV002771087 uncertain significance not provided 2021-10-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002571527 SCV003465739 benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2022-10-14 criteria provided, single submitter clinical testing

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