ClinVar Miner

Submissions for variant NM_006218.4(PIK3CA):c.1060-9T>C

gnomAD frequency: 0.00001  dbSNP: rs750875731
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000987357 SCV001136636 likely benign Cowden syndrome 1 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001506172 SCV001711088 likely benign Cowden syndrome 2024-02-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004538233 SCV004721714 likely benign PIK3CA-related disorder 2022-06-15 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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