ClinVar Miner

Submissions for variant NM_006218.4(PIK3CA):c.1767T>C (p.Asp589=)

gnomAD frequency: 0.00002  dbSNP: rs199540873
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000865936 SCV001006966 likely benign Cowden syndrome 2022-10-24 criteria provided, single submitter clinical testing
Mendelics RCV000987361 SCV001136640 likely benign Cowden syndrome 1 2019-05-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002399892 SCV002710637 likely benign Inborn genetic diseases 2022-02-14 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 RCV003438515 SCV004149441 likely benign not provided 2022-06-01 criteria provided, single submitter clinical testing PIK3CA: BP4, BP7

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