Total submissions: 14
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000039004 | SCV000062682 | benign | not specified | 2011-09-08 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000039004 | SCV000170603 | benign | not specified | 2014-03-20 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Invitae | RCV001085057 | SCV000259890 | benign | Hypertrophic cardiomyopathy | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000243425 | SCV000318162 | benign | Cardiovascular phenotype | 2015-11-13 | criteria provided, single submitter | clinical testing | This alteration is classified as 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. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000024481 | SCV000699422 | benign | not provided | 2017-08-25 | criteria provided, single submitter | clinical testing | Variant summary: The MYOZ2 c.237A>G (p.Ala79Ala) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. Mutation taster predicts a damaging outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant may not affect binding of ESE sites. However, these predictions have yet to be confirmed by functional studies. This variant was found in 1202/121194 control chromosomes (9 homozygotes) from ExAC, predominantly observed in the European (Non-Finnish) subpopulation at a frequency of 0.014932 (995/66636). This frequency is about 597 times the estimated maximal expected allele frequency of a pathogenic MYOZ2 variant (0.000025), suggesting this is likely a benign polymorphism found primarily in the populations of European (Non-Finnish) origin. In addition, multiple clinical diagnostic laboratories in ClinVar have classified this variant as benign. The variant of interest has not, to our knowledge, been reported in affected individuals in literature. Taken together, this variant is classified as benign. |
Genome Diagnostics Laboratory, |
RCV000604944 | SCV000743833 | benign | Hypertrophic cardiomyopathy 16 | 2014-10-10 | criteria provided, single submitter | clinical testing | |
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000604944 | SCV000745240 | benign | Hypertrophic cardiomyopathy 16 | 2015-09-21 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV000770198 | SCV000901626 | benign | Cardiomyopathy | 2016-03-10 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000604944 | SCV001157105 | benign | Hypertrophic cardiomyopathy 16 | 2023-11-29 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000024481 | SCV003916914 | benign | not provided | 2023-11-01 | criteria provided, single submitter | clinical testing | MYOZ2: BP4, BP7, BS1, BS2 |
Leiden Muscular Dystrophy |
RCV000024481 | SCV000045785 | not provided | not provided | 2012-04-20 | no assertion provided | curation | |
Diagnostic Laboratory, |
RCV000604944 | SCV000734311 | likely benign | Hypertrophic cardiomyopathy 16 | no assertion criteria provided | clinical testing | ||
Clinical Genetics, |
RCV000039004 | SCV001919025 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000039004 | SCV001954300 | benign | not specified | no assertion criteria provided | clinical testing |