ClinVar Miner

Submissions for variant NM_006218.4(PIK3CA):c.1104T>C (p.Cys368=)

gnomAD frequency: 0.00029  dbSNP: rs202162121
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000863787 SCV001004501 likely benign Cowden syndrome 2023-12-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002427106 SCV002743949 likely benign Inborn genetic diseases 2022-03-04 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 RCV004540176 SCV004788398 likely benign PIK3CA-related disorder 2019-05-02 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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