Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001571782 | SCV001796315 | likely benign | not provided | 2019-01-24 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV002072221 | SCV002391330 | likely benign | RASopathy | 2023-12-13 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002506678 | SCV002807765 | likely benign | Cardiofaciocutaneous syndrome 1; Noonan syndrome 1; LEOPARD syndrome 3; Noonan syndrome 7; Melanoma, cutaneous malignant, susceptibility to, 1; Colorectal cancer; Lung cancer | 2021-12-14 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001571782 | SCV004562695 | likely benign | not provided | 2023-09-29 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV004782765 | SCV005394044 | likely benign | not specified | 2024-09-04 | criteria provided, single submitter | clinical testing | Variant summary: BRAF c.1993-11T>C alters a non-conserved nucleotide located at a position not widely known to affect splicing. The variant allele was found at a frequency of 3.7e-05 in 246058 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.1993-11T>C in individuals affected with Cardiofaciocutaneous Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 1205197). Based on the evidence outlined above, the variant was classified as likely benign. |