Total submissions: 24
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV000758034 | SCV000564464 | benign | Cardiomyopathy | 2016-12-15 | reviewed by expert panel | curation | The filtering allele frequency of the c.4472C>G (p.Ser1491Cys) variant in the MYH7 gene is 0.98% (698/66740) of European chromosomes by the Exome Aggregation Consortium (http://exac.broadinstitute.org), which is a high enough frequency to be classified as benign based on thresholds defined by the ClinGen Inherited Cardiomyopathy Expert Panel (BA1; PMID:29300372). |
Biesecker Lab/Clinical Genomics Section, |
RCV000172762 | SCV000051574 | benign | Hypertrophic cardiomyopathy | 2013-06-24 | criteria provided, single submitter | research | |
Laboratory for Molecular Medicine, |
RCV000035914 | SCV000059565 | benign | not specified | 2016-01-07 | criteria provided, single submitter | clinical testing | p.Ser1491Cys in exon 31 of MYH7: This variant is not expected to have clinical s ignificance because it has been identified in 1.1% (698/66740) of European chrom osomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org ; dbSNP rs3729823). |
Eurofins Ntd Llc |
RCV000035914 | SCV000110307 | benign | not specified | 2013-03-12 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000035914 | SCV000151922 | benign | not specified | 2014-08-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000035914 | SCV000170536 | benign | not specified | 2012-04-17 | 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. |
Genomic Diagnostic Laboratory, |
RCV000203136 | SCV000257659 | benign | Hypertrophic cardiomyopathy 1 | 2015-04-12 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000172762 | SCV000262237 | benign | Hypertrophic cardiomyopathy | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000035914 | SCV000303239 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Ambry Genetics | RCV000254102 | SCV000317769 | benign | Cardiovascular phenotype | 2015-07-21 | criteria provided, single submitter | clinical testing | This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, 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. |
Illumina Laboratory Services, |
RCV000331016 | SCV000385954 | likely benign | Dilated cardiomyopathy 1S | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
Illumina Laboratory Services, |
RCV000203136 | SCV000385955 | likely benign | Hypertrophic cardiomyopathy 1 | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
ARUP Laboratories, |
RCV000712360 | SCV000604364 | benign | not provided | 2023-11-28 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics | RCV000712360 | SCV000842834 | benign | not provided | 2018-03-23 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000758034 | SCV000902639 | benign | Cardiomyopathy | 2018-03-05 | criteria provided, single submitter | clinical testing | |
Center for Advanced Laboratory Medicine, |
RCV000852699 | SCV000995413 | benign | Restrictive cardiomyopathy; Cardiomyopathy; Hypertrophic cardiomyopathy | 2018-11-14 | criteria provided, single submitter | clinical testing | |
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, |
RCV000035914 | SCV001433060 | likely benign | not specified | 2019-07-03 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000712360 | SCV002545162 | benign | not provided | 2024-07-01 | criteria provided, single submitter | clinical testing | MYH7: BS1, BS2 |
Cohesion Phenomics | RCV000172762 | SCV003803030 | benign | Hypertrophic cardiomyopathy | 2022-10-10 | criteria provided, single submitter | clinical testing | |
Diagnostic Laboratory, |
RCV000035914 | SCV001742479 | benign | not specified | no assertion criteria provided | clinical testing | ||
Laboratory of Diagnostic Genome Analysis, |
RCV000712360 | SCV001798027 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics, |
RCV000035914 | SCV001918462 | benign | not specified | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000035914 | SCV001931851 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000035914 | SCV001956184 | benign | not specified | no assertion criteria provided | clinical testing |