ClinVar Miner

Submissions for variant NM_006218.4(PIK3CA):c.747G>A (p.Lys249=)

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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 RCV002628761 SCV003515629 likely benign Cowden syndrome 2022-12-10 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004540586 SCV004775345 likely benign PIK3CA-related disorder 2019-07-16 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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