ClinVar Miner

Submissions for variant NM_001007026.1(ATN1):c.1462CAG[17] (p.Gln488[17])

dbSNP: rs60216939
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194694 SCV000246624 uncertain significance not specified 2014-06-27 criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000625328 SCV000744953 benign Dentatorubral-pallidoluysian atrophy 2015-09-28 criteria provided, single submitter clinical testing
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital RCV000194694 SCV000864386 benign not specified 2017-03-20 criteria provided, single submitter clinical testing Normal variation in repetative sequence
GeneDx RCV001356352 SCV001950487 benign not provided 2020-05-19 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 20977674, 15148151, 23263592, 8136840)
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001356352 SCV001551497 likely benign not provided no assertion criteria provided clinical testing

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