ClinVar Miner

Submissions for variant NM_006218.4(PIK3CA):c.2418T>C (p.Asp806=)

gnomAD frequency: 0.00002  dbSNP: rs199693043
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000658982 SCV000780785 likely benign not provided 2018-02-01 criteria provided, single submitter clinical testing
Invitae RCV001088006 SCV001004664 likely benign Cowden syndrome 2023-11-04 criteria provided, single submitter clinical testing
Mendelics RCV000987365 SCV001136644 likely benign Cowden syndrome 1 2019-05-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002442380 SCV002733796 likely benign Inborn genetic diseases 2022-02-12 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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