Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000156729 | SCV000206450 | likely benign | not specified | 2014-08-07 | criteria provided, single submitter | clinical testing | 800-5C>T in intron 9 of MYH6: This variant is not expected to have clinical sign ificance because a C>T change at this position does not diverge from the splice consensus sequence and is therefore unlikely to impact splicing. |
Invitae | RCV001458578 | SCV001662402 | likely benign | Hypertrophic cardiomyopathy 14 | 2023-11-03 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000457322 | SCV001827783 | likely benign | not provided | 2018-10-25 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002415677 | SCV002678677 | likely benign | Cardiovascular phenotype | 2020-01-09 | 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. |
Fulgent Genetics, |
RCV002492600 | SCV002803613 | likely benign | Hypertrophic cardiomyopathy 1; Dilated cardiomyopathy 1EE; Hypertrophic cardiomyopathy 14; Atrial septal defect 3; Sick sinus syndrome 3, susceptibility to | 2021-07-16 | criteria provided, single submitter | clinical testing |