Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001698158 | SCV000526805 | likely benign | not provided | 2020-09-17 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000468267 | SCV000556077 | benign | Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia | 2024-01-04 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002313090 | SCV000738431 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2015-06-26 | 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. |
ARUP Laboratories, |
RCV001698158 | SCV001160466 | likely benign | not provided | 2023-08-25 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001698158 | SCV004165097 | likely benign | not provided | 2022-09-01 | criteria provided, single submitter | clinical testing | FLNA: BP4, BP7 |
Prevention |
RCV003932633 | SCV004755825 | likely benign | FLNA-related condition | 2019-06-03 | 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). |
Genome Diagnostics Laboratory, |
RCV001698158 | SCV001930223 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001698158 | SCV001973339 | likely benign | not provided | no assertion criteria provided | clinical testing |