ClinVar Miner

Submissions for variant NM_001142633.3(PIK3R5):c.2496-46A>G

gnomAD frequency: 0.30344  dbSNP: rs4791764
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001788913 SCV002029907 benign Ataxia with oculomotor apraxia type 3 2021-09-05 criteria provided, single submitter clinical testing

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