Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002313705 | SCV000739075 | benign | Familial thoracic aortic aneurysm and aortic dissection | 2017-12-11 | criteria provided, single submitter | clinical testing | This alteration is classified as 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. |
Invitae | RCV000869767 | SCV001011222 | benign | Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia | 2024-01-15 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001549941 | SCV001770184 | likely benign | not provided | 2020-01-08 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 16299064, 28133863, 23873601, 25167861, 17632775, 23871722) |
Ce |
RCV001549941 | SCV004165104 | likely benign | not provided | 2024-01-01 | criteria provided, single submitter | clinical testing | FLNA: BP4, BS2 |
Prevention |
RCV003924824 | SCV004739830 | likely benign | FLNA-related condition | 2022-02-12 | 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). |
OMIM | RCV000012541 | SCV000032775 | pathogenic | FG syndrome 2 | 2007-08-15 | no assertion criteria provided | literature only | |
Genome Diagnostics Laboratory, |
RCV001549941 | SCV001928860 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001549941 | SCV001974108 | likely benign | not provided | no assertion criteria provided | clinical testing |