Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000163438 | SCV000213985 | likely benign | Hereditary cancer-predisposing syndrome | 2014-09-12 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: 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. |
Invitae | RCV000205235 | SCV000261768 | benign | Neurofibromatosis, type 1 | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000504397 | SCV000595975 | likely benign | not specified | 2016-08-24 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000504397 | SCV000917887 | benign | not specified | 2018-01-29 | criteria provided, single submitter | clinical testing | Variant summary: NF1 c.7347T>C (p.Asn2449=) alters a non-conserved nucleotide resulting in a synonymous change. 5/5 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The observed variant frequency within African control individuals in the gnomAD (58/24034 chrs) database is approximately 11.52 fold of the estimated maximal expected allele frequency for a pathogenic variant in NF1 causing Neurofibromatosis Type 1 phenotype (0.00021), strongly suggesting that the variant is a benign polymorphism found primarily in populations of African origin. To our knowledge, no occurrence of c.7347T>C in individuals affected with Neurofibromatosis Type 1 and no experimental evidence demonstrating its impact on protein function have been reported. Two clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as benign/likely benign. Based on the evidence outlined above, the variant was classified as benign. |
Gene |
RCV001589023 | SCV001827164 | likely benign | not provided | 2021-08-02 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001589023 | SCV002048939 | benign | not provided | 2021-03-13 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000163438 | SCV002528100 | benign | Hereditary cancer-predisposing syndrome | 2021-05-30 | criteria provided, single submitter | curation | |
Genome- |
RCV000205235 | SCV002561291 | likely benign | Neurofibromatosis, type 1 | 2022-03-15 | criteria provided, single submitter | clinical testing |