Submissions for variant NM_002474.3(MYH11):c.5053T>C (p.Leu1685=)

gnomAD frequency: 0.00001  dbSNP: rs1057522597

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000440116	SCV000528539	likely benign	not specified	2016-06-06	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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001798811	SCV002042943	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2023-06-07	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001798811	SCV002641884	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2022-07-06	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.
All of Us Research Program, National Institutes of Health	RCV001798811	SCV004827640	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2024-05-30	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV005090804	SCV005815448	likely benign	Aortic aneurysm, familial thoracic 4	2024-12-04	criteria provided, single submitter	clinical testing