Submissions for variant NM_053025.4(MYLK):c.4983C>T (p.Phe1661=)

gnomAD frequency: 0.00011  dbSNP: rs367656778

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001581351	SCV001812089	likely benign	not provided	2021-02-18	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002072299	SCV002472223	likely benign	Aortic aneurysm, familial thoracic 7	2024-01-18	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002334623	SCV002643504	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2020-03-19	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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV002334623	SCV003837874	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2022-01-13	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV003987882	SCV004804295	benign	not specified	2024-01-08	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003966227	SCV004779229	likely benign	MYLK-related disorder	2021-06-14	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).