Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000762685 | SCV000535589 | likely benign | not provided | 2020-06-25 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000559847 | SCV000639837 | benign | Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia | 2023-12-25 | criteria provided, single submitter | clinical testing | |
Génétique des Maladies du Développement, |
RCV000760220 | SCV000890050 | uncertain significance | Cardiac valvular dysplasia, X-linked; FG syndrome 2; Heterotopia, periventricular, X-linked dominant; Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked; Melnick-Needles syndrome; Oto-palato-digital syndrome, type I; Oto-palato-digital syndrome, type II; Terminal osseous dysplasia-pigmentary defects syndrome; Frontometaphyseal dysplasia 1 | 2017-12-28 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000762685 | SCV000893020 | uncertain significance | not provided | 2018-12-01 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000435841 | SCV001160401 | uncertain significance | not specified | 2019-04-07 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV000762685 | SCV001715432 | uncertain significance | not provided | 2020-11-18 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002393056 | SCV002674415 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2023-08-07 | 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. |
Revvity Omics, |
RCV000762685 | SCV003832726 | uncertain significance | not provided | 2019-10-15 | criteria provided, single submitter | clinical testing |