Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000213229 | SCV000269341 | benign | not specified | 2014-11-24 | criteria provided, single submitter | clinical testing | Ser47Gly in exon 2 of MYOM1: This variant is not expected to have clinical signi ficance because it has been identified in 4.3% (8/186) of Finnish chromosomes fr om a broad population by the 1000 Genomes Project (http://www.ncbi.nlm.nih.gov/p rojects/SNP; dbSNP rs202145133). |
Invitae | RCV000228018 | SCV000287981 | benign | Hypertrophic cardiomyopathy | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000621364 | SCV000739833 | benign | Cardiovascular phenotype | 2013-10-24 | criteria provided, single submitter | clinical testing | General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance |