Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000243567 | SCV000318577 | likely benign | Cardiovascular phenotype | 2013-04-16 | 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. |
Invitae | RCV000524586 | SCV000642720 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2023-12-12 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000591889 | SCV000706185 | uncertain significance | not provided | 2017-02-03 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003909880 | SCV004720072 | likely benign | TTN-related condition | 2021-11-13 | 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). |