ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.3299A>C (p.Asn1100Thr)

gnomAD frequency: 0.00001  dbSNP: rs545072717
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001058491 SCV001223066 likely benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2023-07-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003425902 SCV004156612 uncertain significance not provided 2024-02-01 criteria provided, single submitter clinical testing SETX: PM2:Supporting, BP4

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