Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000253884 | SCV000306257 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Gene |
RCV000680331 | SCV000518995 | benign | not provided | 2018-01-02 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Center for Human Genetics, |
RCV000660036 | SCV000781987 | likely benign | Neurofibromatosis, type 1 | 2016-11-01 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000680331 | SCV001158610 | benign | not provided | 2023-11-06 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000253884 | SCV001338020 | benign | not specified | 2020-01-06 | criteria provided, single submitter | clinical testing | Variant summary: NF1 c.3496+19T>C alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 5/5 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 0.0017 in 250870 control chromosomes in the gnomAD database, including 2 homozygotes. The observed variant frequency is approximately 677.6 fold the estimated maximal expected allele frequency for a pathogenic variant in NF1 causing Noonan Syndrome and Related Conditions phenotype (2.5e-06), strongly suggesting that the variant is benign. To our knowledge, no occurrence of c.3496+19T>C in individuals affected with Noonan Syndrome and Related Conditions and no experimental evidence demonstrating an impact on protein function have been reported. Two other clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. Both laboratories classified the variant as benign/likely benign. Based on the evidence outlined above, the variant was classified as benign. |
Invitae | RCV000660036 | SCV002371818 | benign | Neurofibromatosis, type 1 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000660036 | SCV002560672 | benign | Neurofibromatosis, type 1 | 2022-03-15 | criteria provided, single submitter | clinical testing |