Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001079427 | SCV000259332 | likely benign | Neurofibromatosis, type 1 | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000034591 | SCV000723561 | likely benign | not provided | 2020-09-22 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 22703879) |
Sema4, |
RCV000130727 | SCV002528139 | benign | Hereditary cancer-predisposing syndrome | 2021-01-29 | criteria provided, single submitter | curation | |
Ambry Genetics | RCV002415459 | SCV002677501 | likely benign | Hereditary cancer-predisposing syndrome; Cardiovascular phenotype | 2018-11-03 | 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. |
Institute for Biomarker Research, |
RCV000130727 | SCV004228087 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-07-27 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004549403 | SCV004725179 | likely benign | NF1-related disorder | 2024-01-16 | 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). |
Biesecker Lab/Clinical Genomics Section, |
RCV000034591 | SCV000043395 | variant of unknown significance | not provided | 2012-07-13 | no assertion criteria provided | research | Converted during submission to Uncertain significance. |
Genetic Services Laboratory, |
RCV000501885 | SCV000595979 | uncertain significance | not specified | 2017-06-14 | flagged submission | clinical testing | |
Fulgent Genetics, |
RCV000515212 | SCV000611410 | uncertain significance | Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis | 2017-05-23 | flagged submission | clinical testing |