ClinVar Miner

Submissions for variant NM_001372574.1(ATXN2):c.2526A>G (p.Val842=)

gnomAD frequency: 0.00332  dbSNP: rs140262591
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194912 SCV000246773 uncertain significance not specified 2014-06-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003390924 SCV004131937 benign not provided 2023-12-01 criteria provided, single submitter clinical testing ATXN2: BP4, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV003390924 SCV005191997 uncertain significance not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003917737 SCV004739188 benign ATXN2-related disorder 2019-05-10 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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