Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000164933 | SCV000215622 | uncertain significance | Hereditary cancer-predisposing syndrome | 2015-08-10 | criteria provided, single submitter | clinical testing | Insufficient or conflicting evidence |
Fulgent Genetics, |
RCV002492658 | SCV002797156 | uncertain significance | Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis | 2021-07-23 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003416039 | SCV004142543 | uncertain significance | not provided | 2022-12-01 | criteria provided, single submitter | clinical testing | NF1: PM2:Supporting, BP4 |
Prevention |
RCV004552898 | SCV004717359 | likely benign | NF1-related disorder | 2021-04-12 | 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). |