ClinVar Miner

Submissions for variant NM_004993.6(ATXN3):c.916G>C (p.Gly306Arg)

gnomAD frequency: 0.00572  dbSNP: rs12895357
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003925129 SCV004738708 benign ATXN3-related disorder 2019-10-07 criteria provided, single submitter 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).
Genetic Services Laboratory, University of Chicago RCV000116485 SCV000150418 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
GeneReviews RCV000191937 SCV000246171 not provided Azorean disease no assertion provided literature only

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