Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000218460 | SCV000269337 | benign | not specified | 2014-11-24 | criteria provided, single submitter | clinical testing | 1112-11T>C in intron 7 of MYOM1: This variant is not expected to have clinical s ignificance because it has been identified in 7.2% (14/194) of Han Chinese chrom osomes from a broad population by the 1000 Genomes Project (http://www.ncbi.nlm. nih.gov/projects/SNP; dbSNP rs59555146). |
Invitae | RCV002054382 | SCV002403325 | benign | Hypertrophic cardiomyopathy | 2024-01-26 | criteria provided, single submitter | clinical testing |