ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.7840G>A (p.Glu2614Lys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003082971 SCV003483305 benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2022-07-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003312075 SCV004010879 uncertain significance not provided 2023-04-01 criteria provided, single submitter clinical testing SETX: PM2:Supporting, BP4

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