ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.4604G>A (p.Arg1535Gln) (rs137934837)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000417390 SCV000234868 likely benign not specified 2018-01-24 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 RCV000227161 SCV000285794 likely benign Aortic aneurysm, familial thoracic 4 2020-12-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV000617079 SCV000317804 likely benign Cardiovascular phenotype 2018-04-13 criteria provided, single submitter clinical testing Co-occurence with a mutation in another gene that clearly explains a proband's phenotype;Subpopulation frequency in support of benign classification
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001281759 SCV000604354 likely benign none provided 2020-04-10 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000659922 SCV000781826 likely benign Connective tissue disease 2016-11-01 criteria provided, single submitter clinical testing
Color Health, Inc RCV000157332 SCV000910817 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-03-05 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000227161 SCV001277603 likely benign Aortic aneurysm, familial thoracic 4 2019-01-11 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.
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000417390 SCV001433258 likely benign not specified 2020-03-23 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV001311433 SCV001501600 likely benign not provided 2021-01-01 criteria provided, single submitter clinical testing
Blueprint Genetics RCV000157332 SCV000207069 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2014-05-19 no assertion criteria provided clinical testing
Knight Diagnostic Laboratories, Oregon Health and Sciences University RCV000227161 SCV000493765 uncertain significance Aortic aneurysm, familial thoracic 4 2015-09-26 no assertion criteria provided clinical testing

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