ClinVar Miner

Submissions for variant NM_005027.4(PIK3R2):c.598+2T>G

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV004764511 SCV005373998 likely pathogenic Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 2024-09-22 criteria provided, single submitter clinical testing

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