ClinVar Miner

Submissions for variant NM_001142633.3(PIK3R5):c.1075T>C (p.Leu359=)

gnomAD frequency: 0.47682  dbSNP: rs381309
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000117913 SCV000306823 benign not specified criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001787925 SCV002029913 benign Ataxia with oculomotor apraxia type 3 2021-09-05 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000117913 SCV000152189 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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