ClinVar Miner

Submissions for variant NM_006218.4(PIK3CA):c.2508T>C (p.Tyr836=)

dbSNP: rs2108422421
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001434510 SCV001637319 likely benign Cowden syndrome 2020-07-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002432208 SCV002741946 likely benign Inborn genetic diseases 2022-07-02 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.
CeGaT Center for Human Genetics Tuebingen RCV003433164 SCV004149444 likely benign not provided 2022-07-01 criteria provided, single submitter clinical testing PIK3CA: PM2:Supporting, BP4, BP7

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