ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.1288G>A (p.Ala430Thr)

gnomAD frequency: 0.00001  dbSNP: rs778488721
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001093200 SCV001250060 uncertain significance not provided 2020-01-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002554866 SCV003459047 likely benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2022-06-03 criteria provided, single submitter clinical testing

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