ClinVar Miner

Submissions for variant NM_005027.4(PIK3R2):c.1827G>A (p.Glu609=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003073668 SCV003447496 likely benign Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 2022-06-10 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV004584990 SCV005075134 likely benign not provided 2024-06-01 criteria provided, single submitter clinical testing PIK3R2: BP4, BP7

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