ClinVar Miner

Submissions for variant NM_001128164.2(ATXN1):c.636GCA[16] (p.Gln224_Gln225dup)

dbSNP: rs751421308
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000625419 SCV000745311 benign Spinocerebellar ataxia type 1 2016-07-19 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001702529 SCV001932334 benign not specified no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003980212 SCV004790195 benign ATXN1-related disorder 2019-12-09 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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