ClinVar Miner

Submissions for variant NM_005027.4(PIK3R2):c.1044C>T (p.Pro348=)

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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 RCV002970879 SCV003280238 likely benign Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 2023-08-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003898640 SCV004709593 likely benign PIK3R2-related disorder 2022-03-22 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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