Total submissions: 15
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV000521225 | SCV000616476 | likely benign | RASopathy | 2017-04-18 | reviewed by expert panel | curation | The filtering allele frequency of the c.24A>G (p.Val8=) variant in the KRAS gene is 0.0499% (35/51828) of European chromosomes by the Exome Aggregation Consortium, which is a high enough frequency to be classified as likely benign based on thresholds defined by the ClinGen RASopathy Expert Panel (BS1; PMID:29493581) |
Laboratory for Molecular Medicine, |
RCV000038261 | SCV000061930 | likely benign | not specified | 2010-02-24 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000038261 | SCV000170025 | benign | not specified | 2014-05-23 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Prevention |
RCV000038261 | SCV000310754 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Labcorp Genetics |
RCV000521225 | SCV000659084 | likely benign | RASopathy | 2024-01-21 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000994879 | SCV001148679 | likely benign | not provided | 2022-10-01 | criteria provided, single submitter | clinical testing | KRAS: BP4, BP7 |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000038261 | SCV001363597 | benign | not specified | 2019-12-23 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002426568 | SCV002741886 | benign | Cardiovascular phenotype | 2021-12-30 | criteria provided, single submitter | clinical testing | This alteration is classified as benign based on a combination of the following: 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. |
Fulgent Genetics, |
RCV002477100 | SCV002799818 | likely benign | Familial cancer of breast; Noonan syndrome 3; Linear nevus sebaceous syndrome; Toriello-Lacassie-Droste syndrome; Cerebral arteriovenous malformation; Malignant tumor of urinary bladder; Carcinoma of pancreas; Autoimmune lymphoproliferative syndrome type 4; Acute myeloid leukemia; Cardiofaciocutaneous syndrome 2; Gastric cancer; Lung cancer | 2021-08-26 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000994879 | SCV004563099 | likely benign | not provided | 2023-10-19 | criteria provided, single submitter | clinical testing | |
Department of Pathology and Laboratory Medicine, |
RCV000994879 | SCV001552303 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics, |
RCV000994879 | SCV001919211 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000994879 | SCV001927133 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000994879 | SCV001953475 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000994879 | SCV001980621 | likely benign | not provided | no assertion criteria provided | clinical testing |