ClinVar Miner

Submissions for variant NM_006218.4(PIK3CA):c.3075C>T (p.Thr1025=)

gnomAD frequency: 0.01239  dbSNP: rs17849079
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000038674 SCV000062352 likely benign not specified 2012-07-31 criteria provided, single submitter clinical testing This variant was identified in a blood sample as well as a tumor sample from an individual. As it is therefore not a somatic change it is less likely to play a role in tumorigenesis.
PreventionGenetics, part of Exact Sciences RCV000038674 SCV000311439 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000469313 SCV000554286 benign Cowden syndrome 2025-01-28 criteria provided, single submitter clinical testing
GeneDx RCV001541434 SCV001759432 benign not provided 2018-08-07 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23982433)
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003315570 SCV004016562 benign Cowden syndrome 5 2023-07-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001541434 SCV005262947 likely benign not provided criteria provided, single submitter not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000038674 SCV001797746 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000038674 SCV001809608 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001541434 SCV001918482 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001541434 SCV001971296 likely benign not provided no assertion criteria provided clinical testing

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