Submissions for variant NM_002474.3(MYH11):c.5614-7G>A

gnomAD frequency: 0.00006  dbSNP: rs202120792

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000378075	SCV000395199	uncertain significance	Lissencephaly, Recessive	2016-06-14	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000625462	SCV000745470	likely benign	Aortic aneurysm, familial thoracic 4	2015-07-22	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000625462	SCV000763264	benign	Aortic aneurysm, familial thoracic 4	2024-01-27	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000625462	SCV001279559	benign	Aortic aneurysm, familial thoracic 4	2017-04-27	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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Color Diagnostics, LLC DBA Color Health	RCV001189397	SCV001356681	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2018-11-11	criteria provided, single submitter	clinical testing
GeneDx	RCV001706501	SCV001890544	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001706501	SCV003917484	likely benign	not provided	2023-05-01	criteria provided, single submitter	clinical testing	MYH11: BP4, BS1
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000625462	SCV000745952	likely benign	Aortic aneurysm, familial thoracic 4	2014-02-04	no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001706501	SCV001927868	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001706501	SCV001951627	likely benign	not provided		no assertion criteria provided	clinical testing