Total submissions: 26
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
OMIM | RCV000024622 | SCV000050488 | pathogenic | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | 2012-06-08 | no assertion criteria provided | literature only | |
Gene |
RCV000024622 | SCV000086942 | pathologic | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | 2013-08-15 | no assertion criteria provided | curation | Converted during submission to Pathogenic. |
Laboratory for Molecular Medicine, |
RCV000151649 | SCV000199901 | pathogenic | Neoplasm of ovary | 2011-10-12 | no assertion criteria provided | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000154513 | SCV000204184 | pathogenic | Non-small cell lung cancer | 2011-10-12 | no assertion criteria provided | clinical testing | |
Department of Medical Genetics, |
RCV000416776 | SCV000258982 | pathogenic | not provided | 2015-09-01 | no assertion criteria provided | case-control | |
Database of Curated Mutations |
RCV000154513 | SCV000503916 | pathogenic | Non-small cell lung cancer | 2014-10-02 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000421639 | SCV000503917 | likely pathogenic | Neoplasm of brain | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000431872 | SCV000503918 | pathogenic | Neoplasm of the large intestine | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000442348 | SCV000503919 | pathogenic | Breast neoplasm | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000151649 | SCV000503920 | pathogenic | Neoplasm of ovary | 2014-10-02 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000433007 | SCV000503921 | likely pathogenic | Glioblastoma | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000445059 | SCV000503922 | likely pathogenic | Hepatocellular carcinoma | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000425548 | SCV000503923 | likely pathogenic | Squamous cell carcinoma of the head and neck | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000435811 | SCV000503924 | likely pathogenic | Papillary renal cell carcinoma, sporadic | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000419905 | SCV000503925 | likely pathogenic | Carcinoma of esophagus | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000426691 | SCV000503926 | likely pathogenic | Adenocarcinoma of prostate | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000436932 | SCV000503927 | likely pathogenic | Squamous cell lung carcinoma | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000419440 | SCV000503928 | likely pathogenic | Adenocarcinoma of stomach | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000431000 | SCV000503929 | likely pathogenic | Small cell lung carcinoma | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000441707 | SCV000503930 | likely pathogenic | Lung adenocarcinoma | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000420078 | SCV000503931 | likely pathogenic | Malignant neoplasm of body of uterus | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000430763 | SCV000503932 | likely pathogenic | Neoplasm of uterine cervix | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000438815 | SCV000503933 | likely pathogenic | Transitional cell carcinoma of the bladder | 2016-05-31 | no assertion criteria provided | literature only | |
OMIM | RCV000709693 | SCV000839593 | pathogenic | Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth | 2012-06-08 | no assertion criteria provided | literature only | |
German Consortium for Hereditary Breast and Ovarian Cancer Center Cologne, |
RCV000151649 | SCV000923935 | pathogenic | Neoplasm of ovary | 2018-12-01 | no assertion criteria provided | research | |
Institute of Medical Sciences, |
RCV001255687 | SCV001432252 | pathogenic | Lip and oral cavity carcinoma | 2019-04-30 | no assertion criteria provided | research |