ClinVar Miner

Submissions for variant NM_006218.4(PIK3CA):c.2439A>G (p.Thr813=)

dbSNP: rs201600506
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001411650 SCV001613713 likely benign Cowden syndrome 2022-06-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002456049 SCV002736716 likely benign Inborn genetic diseases 2022-03-03 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV004537903 SCV004717266 likely benign PIK3CA-related disorder 2022-07-13 criteria provided, single submitter 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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