ClinVar Miner

Submissions for variant NM_006218.4(PIK3CA):c.2214A>G (p.Gln738=)

gnomAD frequency: 0.00001  dbSNP: rs751886212
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002544603 SCV001089442 likely benign Cowden syndrome 2023-04-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV003169438 SCV003910140 likely benign Inborn genetic diseases 2023-01-26 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.

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