ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.2233C>T (p.Arg745Cys)

gnomAD frequency: 0.00001  dbSNP: rs780121182
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001531747 SCV001747013 uncertain significance not provided 2021-02-01 criteria provided, single submitter clinical testing
Athena Diagnostics RCV001531747 SCV002771097 uncertain significance not provided 2022-07-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002568198 SCV003266440 benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2022-05-10 criteria provided, single submitter clinical testing

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