Total submissions: 17
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000126950 | SCV000269269 | benign | not specified | 2013-04-04 | criteria provided, single submitter | clinical testing | Ala1421Ala in exon 32 of MYH11: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 46.4% (3990/8600) of European American chromosomes from a broad population by the NHLBI Exome Sequ encing Project (http://evs.gs.washington.edu/EVS; dbSNP rs2075511). |
Prevention |
RCV000126950 | SCV000306193 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Ambry Genetics | RCV000250056 | SCV000317691 | benign | Familial thoracic aortic aneurysm and aortic dissection | 2015-06-19 | 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 |
Illumina Laboratory Services, |
RCV000609871 | SCV000395263 | benign | Aortic aneurysm, familial thoracic 4 | 2018-01-12 | criteria provided, single submitter | clinical testing | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. |
Illumina Laboratory Services, |
RCV000316233 | SCV000395264 | benign | Lissencephaly, Recessive | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000617695 | SCV000738268 | benign | Cardiovascular phenotype | 2014-11-19 | 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. |
ARUP Laboratories, |
RCV001705917 | SCV000885763 | benign | not provided | 2023-11-30 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000250056 | SCV000910506 | benign | Familial thoracic aortic aneurysm and aortic dissection | 2018-03-07 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV001116324 | SCV001274382 | benign | Lissencephaly 4 | 2018-01-12 | criteria provided, single submitter | clinical testing | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. |
Invitae | RCV000609871 | SCV001716970 | benign | Aortic aneurysm, familial thoracic 4 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001705917 | SCV001838647 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000609871 | SCV002014360 | benign | Aortic aneurysm, familial thoracic 4 | 2021-09-05 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001775609 | SCV002014361 | benign | Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 | 2021-09-05 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001775610 | SCV002014362 | benign | Visceral myopathy 2 | 2021-09-05 | criteria provided, single submitter | clinical testing | |
Diagnostic Laboratory, |
RCV000609871 | SCV000733496 | benign | Aortic aneurysm, familial thoracic 4 | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000609871 | SCV000745962 | benign | Aortic aneurysm, familial thoracic 4 | 2014-11-19 | no assertion criteria provided | clinical testing | |
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000126950 | SCV001969215 | benign | not specified | no assertion criteria provided | clinical testing |