ClinVar Miner

Submissions for variant NM_005027.4(PIK3R2):c.1056C>G (p.Phe352Leu)

dbSNP: rs1568636630
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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 Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV000767347 SCV000897917 likely pathogenic Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 2018-12-03 criteria provided, single submitter research

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