Submissions for variant NM_002474.3(MYH11):c.4680C>T (p.Asp1560=)

gnomAD frequency: 0.00012  dbSNP: rs142613263

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000420131	SCV000528428	likely benign	not provided	2020-11-11	criteria provided, single submitter	clinical testing
Invitae	RCV000548494	SCV000641049	likely benign	Aortic aneurysm, familial thoracic 4	2023-12-15	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001183481	SCV000739221	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2016-10-31	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.
Color Diagnostics, LLC DBA Color Health	RCV001183481	SCV001349223	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2018-11-25	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000420131	SCV002063494	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	MYH11: BP4, BP7
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000420131	SCV001977707	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000420131	SCV001980374	likely benign	not provided		no assertion criteria provided	clinical testing