Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000865951 | SCV001006981 | likely benign | Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia | 2023-08-27 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001811520 | SCV001473350 | likely benign | not provided | 2020-01-19 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002363231 | SCV002662452 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2021-02-03 | 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. |
Prevention |
RCV003948109 | SCV004760396 | likely benign | FLNA-related condition | 2020-12-08 | 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). |