ClinVar Miner

Submissions for variant NM_001372574.1(ATXN2):c.59AGC[8] (p.Gln28del)

dbSNP: rs10560189
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital RCV000625508 SCV001984259 benign Spinocerebellar ataxia type 2 2020-03-23 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000625508 SCV000745999 likely benign Spinocerebellar ataxia type 2 2015-02-07 no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001701421 SCV001919710 benign not specified no assertion criteria provided clinical testing

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