ClinVar Miner

Submissions for variant NM_006218.4(PIK3CA):c.*29T>C

gnomAD frequency: 0.00333  dbSNP: rs141178472
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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 RCV000235680 SCV000294202 benign Cowden syndrome 2024-04-23 criteria provided, single submitter clinical testing
GeneDx RCV000998164 SCV001944711 benign not provided 2020-04-01 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 25834816)
PreventionGenetics, part of Exact Sciences RCV004535201 SCV004741612 likely benign PIK3CA-related disorder 2021-03-31 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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