Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000037534 | SCV000061192 | uncertain significance | not specified | 2013-01-16 | criteria provided, single submitter | clinical testing | The 5662-6C>T variant in MYH6 has not been reported in the literature nor previo usly identified by our laboratory. This variant has been identified in 1/8600 Eu ropean American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs .washington.edu/EVS/) as well as in 1/192 Luhya chromosomes and 1/110 Puerto Ric an chromosomes from the 1000 Genomes Project (dbSNP rs183733802). This variant i s located in the 3' splice region. Computational tools do not suggest an impact to splicing, though this information is not predictive enough to rule out pathog enicity. In summary, additional information is needed to fully assess the clinic al significance of the 5662-6C>T variant. |
Invitae | RCV001464365 | SCV001668332 | likely benign | Hypertrophic cardiomyopathy 14 | 2022-08-09 | criteria provided, single submitter | clinical testing |