Total submissions: 13
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV000522477 | SCV000616468 | benign | RASopathy | 2017-04-18 | reviewed by expert panel | curation | The filtering allele frequency of the c.477G>A (p.Leu159=) variant in the HRAS gene is 0.185% (140/65296) of European chromosomes by the Exome Aggregation Consortium, which is a high enough frequency to be classified as benign based on thresholds defined by the ClinGen RASopathy Expert Panel (BA1; PMID:29493581) |
Laboratory for Molecular Medicine, |
RCV000038465 | SCV000062143 | benign | not specified | 2011-12-22 | criteria provided, single submitter | clinical testing | Leu159Leu in Exon 05B of HRAS: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, is not located within the splice consensus sequence and has been identified in 0.4% (27/7020) of Euro pean American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs140060409). |
Invitae | RCV000234776 | SCV000288859 | benign | Costello syndrome | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Preventiongenetics, |
RCV000038465 | SCV000311014 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
ARUP Laboratories, |
RCV001538584 | SCV001159311 | benign | not provided | 2023-10-03 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001538584 | SCV001756258 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV001813238 | SCV002060518 | benign | Noonan syndrome and Noonan-related syndrome | 2021-06-25 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000038465 | SCV002066061 | benign | not specified | 2021-11-15 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV002257372 | SCV002537983 | benign | Hereditary cancer-predisposing syndrome | 2020-11-05 | criteria provided, single submitter | curation | |
Ambry Genetics | RCV002336104 | SCV002638705 | benign | Cardiovascular phenotype | 2021-07-22 | 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. |
Ce |
RCV001538584 | SCV004134983 | likely benign | not provided | 2023-06-01 | criteria provided, single submitter | clinical testing | HRAS: BP4, BP7, BS1 |
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV001538584 | SCV001953392 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001538584 | SCV001967775 | likely benign | not provided | no assertion criteria provided | clinical testing |