Total submissions: 13
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000215673 | SCV000270621 | likely benign | not specified | 2015-10-13 | criteria provided, single submitter | clinical testing | c.4577+11C>G in intron 34 of NF1: This variant is not expected to have clinical significance because it is not located within the conserved splice consensus seq uence. It has been identified in 0.12% (83/66726) of European American chromosom es by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; db SNP rs190614908). |
Prevention |
RCV000215673 | SCV000306268 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Gene |
RCV000679391 | SCV000527010 | likely benign | not provided | 2017-07-28 | 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, |
RCV000660058 | SCV000782025 | likely benign | Neurofibromatosis, type 1 | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000215673 | SCV002071833 | likely benign | not specified | 2019-04-24 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000660058 | SCV002412761 | benign | Neurofibromatosis, type 1 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV002256124 | SCV002527576 | benign | Hereditary cancer-predisposing syndrome | 2021-07-12 | criteria provided, single submitter | curation | |
Genome- |
RCV000660058 | SCV002560749 | benign | Neurofibromatosis, type 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
KCCC/NGS Laboratory, |
RCV003316193 | SCV004016424 | likely benign | Neurofibromatosis, familial spinal | 2023-07-07 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000679391 | SCV004142545 | likely benign | not provided | 2023-03-01 | criteria provided, single submitter | clinical testing | NF1: BS1 |
Ambry Genetics | RCV004558464 | SCV005048820 | likely benign | Hereditary cancer-predisposing syndrome; Cardiovascular phenotype | 2015-03-11 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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. |
Genome Diagnostics Laboratory, |
RCV000679391 | SCV001808844 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000215673 | SCV001964419 | benign | not specified | no assertion criteria provided | clinical testing |