ClinVar Miner

Submissions for variant NM_005027.4(PIK3R2):c.816-8C>T

gnomAD frequency: 0.00018  dbSNP: rs200494626
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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 RCV000908099 SCV001052839 likely benign Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 2023-12-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003958266 SCV004775266 benign PIK3R2-related disorder 2019-07-10 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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