ClinVar Miner

Submissions for variant NM_006218.4(PIK3CA):c.1143C>G (p.Pro381=)

gnomAD frequency: 0.00303  dbSNP: rs72561481
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000473850 SCV000554284 benign Cowden syndrome 2023-12-08 criteria provided, single submitter clinical testing
GeneDx RCV001533820 SCV001750687 benign not provided 2020-09-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002451149 SCV002614583 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.
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316577 SCV004016569 benign Cowden syndrome 5 2023-07-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001533820 SCV004149438 benign not provided 2022-04-01 criteria provided, single submitter clinical testing PIK3CA: BS1, BS2
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001796063 SCV002034312 benign not specified no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001533820 SCV002036374 likely benign not provided no assertion criteria provided clinical testing

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