ClinVar Miner

Submissions for variant NM_001142633.3(PIK3R5):c.933A>G (p.Leu311=)

gnomAD frequency: 0.28596  dbSNP: rs11650737
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000117915 SCV000306829 benign not specified criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001787927 SCV002029915 benign Ataxia with oculomotor apraxia type 3 2021-09-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004709272 SCV005253672 benign not provided criteria provided, single submitter not provided
Genetic Services Laboratory, University of Chicago RCV000117915 SCV000152191 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.

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