Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV000519223 | SCV000616472 | benign | RASopathy | 2017-04-18 | reviewed by expert panel | curation | The filtering allele frequency of the c.309G>A (p.Val103=) variant in the HRAS gene is 0.063% (10/8640) of East Asian 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) |
Labcorp Genetics |
RCV000227548 | SCV000288854 | likely benign | Costello syndrome | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001711138 | SCV001942931 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV001813235 | SCV002060511 | likely benign | Noonan syndrome and Noonan-related syndrome | 2016-12-12 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003894842 | SCV004710296 | benign | HRAS-related disorder | 2021-03-27 | no assertion criteria provided | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |