ClinVar Miner

Submissions for variant NM_005027.4(PIK3R2):c.2168C>T (p.Pro723Leu)

gnomAD frequency: 0.00048  dbSNP: rs201029925
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001557580 SCV001779360 likely benign not provided 2020-03-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002072100 SCV002331008 benign Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 2025-01-21 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001557580 SCV004145240 likely benign not provided 2023-07-01 criteria provided, single submitter clinical testing PIK3R2: BS2

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