ClinVar Miner

Submissions for variant NM_006218.4(PIK3CA):c.225A>G (p.Gln75=)

gnomAD frequency: 0.00009  dbSNP: rs202176973
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000553909 SCV000626816 likely benign Cowden syndrome 2023-10-10 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001815400 SCV002062522 likely benign not provided 2021-10-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002448618 SCV002736531 likely benign Inborn genetic diseases 2022-02-18 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 RCV004541646 SCV004783458 likely benign PIK3CA-related disorder 2023-06-12 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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