Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000217979 | SCV000269368 | benign | not specified | 2014-11-24 | criteria provided, single submitter | clinical testing | Arg1573Gln in exon 37 of MYOM1: This variant is not expected to have clinical si gnificance because it has been identified in 4.5% (6/132) of Mexican chromosomes from a broad population by the 1000 Genomes Project (http://www.ncbi.nlm.nih.go v/projects/SNP; dbSNP rs117342470). |
Invitae | RCV000231050 | SCV000288005 | benign | Hypertrophic cardiomyopathy | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000621693 | SCV000739880 | benign | Cardiovascular phenotype | 2013-05-24 | 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 |