Submissions for variant NM_002474.3(MYH11):c.4116+11del

dbSNP: rs543763112

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000251675	SCV000234820	benign	not specified	2014-09-10	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.
PreventionGenetics, part of Exact Sciences	RCV000251675	SCV000306188	benign	not specified	2016-03-16	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000625464	SCV000745479	likely benign	Aortic aneurysm, familial thoracic 4	2015-05-27	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001171277	SCV001333987	benign	Familial thoracic aortic aneurysm and aortic dissection	2017-11-28	criteria provided, single submitter	clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana	RCV001195798	SCV001366218	uncertain significance	Lissencephaly 4	2018-10-31	criteria provided, single submitter	clinical testing	This variant was classified as: Uncertain significance. The available evidence favors the benign nature of this variant, however the evidence is insufficent to prove its benign nature. The following ACMG criteria were applied in classifying this variant: BP6.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001701548	SCV001472526	benign	not provided	2021-08-26	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000625464	SCV002406826	benign	Aortic aneurysm, familial thoracic 4	2025-02-03	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000251675	SCV002819624	benign	not specified	2022-12-17	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001171277	SCV004849151	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2015-09-06	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, Amsterdam University Medical Center	RCV000625464	SCV000745964	likely benign	Aortic aneurysm, familial thoracic 4	2014-02-04	no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001701548	SCV001932322	likely benign	not provided		no assertion criteria provided	clinical testing