ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.2887C>T (p.His963Tyr)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV002474448 SCV002771077 uncertain significance not provided 2021-06-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002569402 SCV003284276 likely benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2022-04-24 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV002474448 SCV003827525 uncertain significance not provided 2019-10-23 criteria provided, single submitter clinical testing

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