Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000166411 | SCV000217206 | likely benign | Hereditary cancer-predisposing syndrome | 2014-10-15 | 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 | RCV001081438 | SCV000554881 | likely benign | Neurofibromatosis, type 1 | 2024-01-28 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000615249 | SCV000712599 | likely benign | not specified | 2016-10-25 | criteria provided, single submitter | clinical testing | p.Thr1648Thr in exon 37 of NF1: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 1/66730 European c hromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute .org; dbSNP rs759291615 ). |
Gene |
RCV000681307 | SCV000808769 | likely benign | not provided | 2020-12-14 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001081438 | SCV002560787 | likely benign | Neurofibromatosis, type 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003947431 | SCV004764324 | likely benign | NF1-related condition | 2019-11-21 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |