ClinVar Miner

Submissions for variant NM_001372574.1(ATXN2):c.3322A>G (p.Met1108Val)

gnomAD frequency: 0.00005  dbSNP: rs775411387
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001196965 SCV001367599 benign Spinocerebellar ataxia type 2 2018-11-02 criteria provided, single submitter clinical testing This variant was classified as: Benign. The following ACMG criteria were applied in classifying this variant: BS1,BS2.

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