ClinVar Miner

Submissions for variant NM_006218.4(PIK3CA):c.2016-12C>T

gnomAD frequency: 0.00275  dbSNP: rs147286696
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000987364 SCV001136643 benign Cowden syndrome 1 2019-05-28 criteria provided, single submitter clinical testing
GeneDx RCV001597238 SCV001831465 benign not provided 2018-11-20 criteria provided, single submitter clinical testing
Invitae RCV002067576 SCV002404959 benign Cowden syndrome 2024-01-30 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001700962 SCV001919872 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001700962 SCV001965232 benign not specified no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001597238 SCV002036263 likely benign not provided no assertion criteria provided clinical testing

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