Total submissions: 33
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV000626894 | SCV000747597 | pathogenic | Macrodactyly of toe; Stroke | 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 |
OMIM | RCV000014629 | SCV000034884 | pathogenic | Breast adenocarcinoma | 2012-06-24 | no assertion criteria provided | literature only | |
OMIM | RCV000032905 | SCV000056677 | pathogenic | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | 2012-06-24 | no assertion criteria provided | literature only | |
Gene |
RCV000032905 | SCV000086945 | pathologic | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | 2013-08-15 | no assertion criteria provided | curation | Converted during submission to Pathogenic. |
Genomics and Pathology Services, |
RCV000201235 | SCV000255986 | pathogenic | PIK3CA related overgrowth spectrum | 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 cancer | 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 | Adrenocortical 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 | Adenocarcinoma of stomach | 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 | Adenocarcinoma of prostate | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000425496 | SCV000504155 | likely pathogenic | Renal cell carcinoma, papillary, 1 | 2016-05-31 | no assertion criteria provided | literature only | |
OMIM | RCV000709692 | SCV000839592 | pathogenic | Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth | 2012-06-24 | no assertion criteria provided | literature only | |
German Consortium for Hereditary Breast and Ovarian Cancer Center Cologne, |
RCV000422323 | SCV000923937 | pathogenic | Neoplasm of ovary | 2018-12-01 | no assertion criteria provided | research |