ClinVar Miner

Submissions for variant NM_001372574.1(ATXN2):c.-91C>T

gnomAD frequency: 0.61029  dbSNP: rs695872
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breakthrough Genomics, Breakthrough Genomics RCV004707945 SCV005231477 benign not provided criteria provided, single submitter not provided
Genetic Services Laboratory, University of Chicago RCV000116478 SCV000150411 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 RCV000625512 SCV000746003 benign Spinocerebellar ataxia type 2 2015-10-06 no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000116478 SCV001917194 benign not specified no assertion criteria provided clinical testing

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