ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.4578+3A>G

gnomAD frequency: 0.00138  dbSNP: rs143288748
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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000126954 SCV000170485 benign not specified 2013-01-30 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, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000203113 SCV000257759 uncertain significance Aortic aneurysm, familial thoracic 4 2015-02-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000203113 SCV000285793 likely benign Aortic aneurysm, familial thoracic 4 2025-02-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000126954 SCV000306198 likely benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000769662 SCV000317380 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-01-09 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000203113 SCV000744017 likely benign Aortic aneurysm, familial thoracic 4 2016-03-04 criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000203113 SCV000745476 likely benign Aortic aneurysm, familial thoracic 4 2016-01-19 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000769662 SCV000901070 benign Familial thoracic aortic aneurysm and aortic dissection 2019-07-03 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000769662 SCV000911001 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-03-09 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000857983 SCV001150819 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing MYH11: BP4
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000857983 SCV001157325 likely benign not provided 2024-03-18 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000203113 SCV001279811 uncertain significance Aortic aneurysm, familial thoracic 4 2018-01-13 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000203113 SCV000745959 likely benign Aortic aneurysm, familial thoracic 4 2014-12-14 no assertion criteria provided clinical testing

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