Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV000157821 | SCV000616389 | benign | RASopathy | 2017-04-03 | reviewed by expert panel | curation | The filtering allele frequency of the c.968C>T (p.Ser323Leu) variant in the BRAF gene is 0.06% for South Asian chromosomes by the Exome Aggregation Consortium (17/16512 with 95% CI), which is a high enough frequency to be classified as benign based on thresholds defined by the ClinGen RASopathy Expert panel for autosomal dominant RASopathy variants (BA1). |
Laboratory for Molecular Medicine, |
RCV000037964 | SCV000061630 | uncertain significance | not specified | 2012-04-18 | criteria provided, single submitter | clinical testing | Variant classified as Uncertain Significance - Favor Benign. The Ser323Leu varia nt has not been reported in the literature nor previously identified by our labo ratory. Serine (Ser) at this position is conserved across mammals but not into lower species and computational analyses (biochemical amino acid properties, Pol yPhen2, SIFT, AlignGVGD) do not provide strong support for or against pathogenic ity. In the absence of additional information, the clinical significance of thi s variant cannot be determined at this time. |
Gene |
RCV000680283 | SCV000207751 | benign | not provided | 2019-02-28 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV001813341 | SCV002060480 | likely benign | Noonan syndrome and Noonan-related syndrome | 2020-08-20 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000157821 | SCV002401791 | benign | RASopathy | 2023-08-05 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003964854 | SCV004776945 | benign | BRAF-related condition | 2021-07-05 | criteria provided, single submitter | 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). |