Submissions for variant NM_053025.4(MYLK):c.4289-10_4289-9dup

dbSNP: rs41431347

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000541576	SCV000650551	benign	Aortic aneurysm, familial thoracic 7	2024-12-24	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000733357	SCV000861419	likely benign	not specified	2018-06-06	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002330938	SCV002629542	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2018-08-08	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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000733357	SCV005381474	benign	not specified	2024-08-03	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003905420	SCV004719933	likely benign	MYLK-related disorder	2019-08-07	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).