ClinVar Miner

Submissions for variant NM_005027.4(PIK3R2):c.1987G>C (p.Gly663Arg)

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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 RCV002993526 SCV003290180 likely benign Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 2023-12-12 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003427540 SCV004145239 uncertain significance not provided 2022-09-01 criteria provided, single submitter clinical testing PIK3R2: PP3

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