Total submissions: 37
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV000626894 | SCV000747597 | pathogenic | Macrodactyly of toe; Stroke disorder | 2017-01-01 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000987367 | SCV001136646 | pathogenic | Cowden syndrome 1 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Institute of Human Genetics, |
RCV001253236 | SCV001428854 | pathogenic | Megalencephaly-capillary malformation-polymicrogyria syndrome | 2018-11-07 | criteria provided, single submitter | clinical testing | This variant was identified as de novo |
Equipe Genetique des Anomalies du Developpement, |
RCV001526597 | SCV001737026 | pathogenic | Hemihypertrophy | criteria provided, single submitter | clinical testing | ||
Centogene AG - |
RCV001807728 | SCV002059602 | pathogenic | Colorectal cancer | 2020-04-02 | criteria provided, single submitter | clinical testing | |
Seattle Children's Hospital Molecular Genetics Laboratory, |
RCV002254265 | SCV002525712 | pathogenic | not provided | 2021-04-27 | criteria provided, single submitter | clinical testing | This variant has previously been reported in numerous unrelated individuals with PIK3CA-related segmental overgrowth syndrome, including individuals with venous malformations (PMID: 25681199, PMID: 27631024, PMID: 28151489, NBK153722). The p.H1047L variant substitutes the histidine with leucine at position 1047 within the PIK3CA kinase domain. This is an activating mutation that results in ligand-independent activation of the PI3K-AKT-mTOR pathway and increased proliferation in vitro (PMID: 26627007). |
OMIM | RCV000014629 | SCV000034884 | not provided | Breast adenocarcinoma | 2024-02-23 | no assertion criteria provided | literature only | |
OMIM | RCV000032905 | SCV000056677 | not provided | CLOVES syndrome | 2024-02-23 | no assertion criteria provided | literature only | |
Gene |
RCV000032905 | SCV000086945 | not provided | CLOVES syndrome | no assertion provided | literature only | ||
Clinical Genomics Laboratory, |
RCV000201235 | SCV000255986 | pathogenic | PIK3CA related overgrowth syndrome | 2014-11-25 | no assertion criteria provided | clinical testing | |
Database of Curated Mutations |
RCV000427278 | SCV000504132 | likely pathogenic | Hepatocellular carcinoma | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000438270 | SCV000504133 | pathogenic | Neoplasm of the large intestine | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000417557 | SCV000504134 | likely pathogenic | Pancreatic adenocarcinoma | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000428229 | SCV000504135 | pathogenic | Non-small cell lung carcinoma | 2014-10-02 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000435425 | SCV000504136 | likely pathogenic | Ovarian serous cystadenocarcinoma | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000418190 | SCV000504137 | likely pathogenic | Medulloblastoma | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000428866 | SCV000504138 | likely pathogenic | Adrenal cortex carcinoma | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000439524 | SCV000504139 | likely pathogenic | Neoplasm of uterine cervix | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000422323 | SCV000504140 | pathogenic | Neoplasm of ovary | 2014-10-02 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000429614 | SCV000504141 | likely pathogenic | Transitional cell carcinoma of the bladder | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000440269 | SCV000504142 | pathogenic | Breast neoplasm | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000423048 | SCV000504143 | likely pathogenic | Squamous cell carcinoma of the head and neck | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000433765 | SCV000504144 | likely pathogenic | Uterine carcinosarcoma | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000443510 | SCV000504145 | likely pathogenic | Neoplasm of brain | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000423706 | SCV000504146 | likely pathogenic | Squamous cell lung carcinoma | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000434398 | SCV000504147 | likely pathogenic | Glioblastoma | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000443341 | SCV000504148 | likely pathogenic | Gastric adenocarcinoma | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000427664 | SCV000504149 | likely pathogenic | Carcinoma of esophagus | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000434874 | SCV000504150 | likely pathogenic | Malignant neoplasm of body of uterus | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000442340 | SCV000504151 | likely pathogenic | Brainstem glioma | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000424813 | SCV000504152 | likely pathogenic | Malignant melanoma of skin | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000435543 | SCV000504153 | likely pathogenic | Lung adenocarcinoma | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000418315 | SCV000504154 | likely pathogenic | Prostate adenocarcinoma | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000425496 | SCV000504155 | likely pathogenic | Papillary renal cell carcinoma type 1 | 2016-05-31 | no assertion criteria provided | literature only | |
OMIM | RCV000709692 | SCV000839592 | not provided | CLAPO syndrome | 2024-02-23 | no assertion criteria provided | literature only | |
German Consortium for Hereditary Breast and Ovarian Cancer, |
RCV000422323 | SCV000923937 | pathogenic | Neoplasm of ovary | 2018-12-01 | no assertion criteria provided | research | |
OMIM | RCV001728092 | SCV001976536 | not provided | CEREBRAL CAVERNOUS MALFORMATIONS 4, SOMATIC | 2024-02-23 | no assertion criteria provided | literature only |