Submissions for variant NM_053025.4(MYLK):c.5001C>T (p.Asn1667=)

gnomAD frequency: 0.00004  dbSNP: rs375038682

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000245685	SCV000315311	likely benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV001697629	SCV000726353	likely benign	not provided	2020-08-10	criteria provided, single submitter	clinical testing
Invitae	RCV000648747	SCV000770568	likely benign	Aortic aneurysm, familial thoracic 7	2023-12-31	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000770611	SCV000902061	uncertain significance	Familial thoracic aortic aneurysm and aortic dissection	2016-04-05	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000245685	SCV002074503	benign	not specified	2022-01-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000770611	SCV002644522	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2019-06-01	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.
CeGaT Center for Human Genetics Tuebingen	RCV001697629	SCV004155424	likely benign	not provided	2022-06-01	criteria provided, single submitter	clinical testing	MYLK: BP4, BP7