ClinVar Miner

Submissions for variant NM_001372574.1(ATXN2):c.42G>A (p.Gln14=)

gnomAD frequency: 0.75204  dbSNP: rs4098854
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000116479 SCV000150412 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.
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000625511 SCV000746002 likely benign Spinocerebellar ataxia type 2 2015-02-07 no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000116479 SCV001924015 benign not specified no assertion criteria provided clinical testing

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