ClinVar Miner

Submissions for variant NM_001142633.3(PIK3R5):c.2299+18T>G

gnomAD frequency: 0.29072  dbSNP: rs9903447
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000242347 SCV000306827 benign not specified criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001788103 SCV002029909 benign Ataxia with oculomotor apraxia type 3 2021-09-05 criteria provided, single submitter clinical testing

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