Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV000519506 | SCV000616395 | likely benign | RASopathy | 2017-04-03 | reviewed by expert panel | curation | The c.111G>A (p.Ser37=) variant in BRAF is a synonymous (silent) variant at a nucleotide that is not highly conserved and is not predicted to impact splicing (BP7). This variant has been identified in a patient with an alternate molecular basis for disease (BP5; Partners LMM, GeneDx internal data, GTR ID's: SCV000197179.4, SCV000512270.5). In summary, this variant meets criteria to be classified as likely benign. RASopathy-specific ACMG/AMP criteria applied (PMID:29493581): BP7, BP5. |
Laboratory for Molecular Medicine, |
RCV000150216 | SCV000197179 | likely benign | not specified | 2014-03-07 | criteria provided, single submitter | clinical testing | Ser37Ser in exon 1 of BRAF: This variant is not expected to have clinical signif icance because it does not alter an amino acid residue and it is not located wit hin the splice consensus sequence. |
Gene |
RCV000157665 | SCV000512270 | likely benign | not provided | 2021-04-09 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000150216 | SCV001337707 | likely benign | not specified | 2020-01-25 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000519506 | SCV002201088 | likely benign | RASopathy | 2023-10-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002433643 | SCV002749693 | likely benign | Cardiovascular phenotype | 2022-08-27 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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. |
Greenwood Genetic Center Diagnostic Laboratories, |
RCV000157665 | SCV000207630 | uncertain significance | not provided | 2015-01-15 | no assertion criteria provided | clinical testing |