ClinVar Miner

Submissions for variant NM_005027.4(PIK3R2):c.1842C>T (p.Leu614=)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003060891 SCV003456033 likely benign Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 2022-05-10 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003456544 SCV004183630 likely benign not provided 2024-05-01 criteria provided, single submitter clinical testing PIK3R2: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003926669 SCV004745991 likely benign PIK3R2-related disorder 2019-05-17 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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