ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.12G>A (p.Lys4=) (rs112650390)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000126972 SCV000170503 benign not specified 2014-01-04 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.
Ambry Genetics RCV000251522 SCV000317809 likely benign Familial thoracic aortic aneurysm and aortic dissection 2015-07-28 criteria provided, single submitter clinical testing
Invitae RCV000466346 SCV000556114 likely benign Aortic aneurysm, familial thoracic 4 2020-11-23 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000466346 SCV000604346 likely benign Aortic aneurysm, familial thoracic 4 2020-03-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV000619479 SCV000738337 likely benign Cardiovascular phenotype 2015-02-24 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000466346 SCV000745491 likely benign Aortic aneurysm, familial thoracic 4 2017-06-28 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000680563 SCV000807977 likely benign Connective tissue disease 2018-06-01 criteria provided, single submitter clinical testing
Color Health, Inc RCV000251522 SCV000903200 benign Familial thoracic aortic aneurysm and aortic dissection 2018-04-07 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000858508 SCV001150845 likely benign not provided 2018-05-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000466346 SCV001274988 uncertain significance 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, 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,VU University Medical Center Amsterdam RCV000466346 SCV000745980 likely benign Aortic aneurysm, familial thoracic 4 2015-03-23 no assertion criteria provided clinical testing

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