Submissions for variant NM_033118.4(MYLK2):c.417C>T (p.Ala139=)

gnomAD frequency: 0.00004  dbSNP: rs560951755

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000156883	SCV000206604	likely benign	not specified	2014-11-12	criteria provided, single submitter	clinical testing	p.Ala139Ala in exon 3 of MYLK2: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence.
CeGaT Center for Human Genetics Tuebingen	RCV000997764	SCV001153455	uncertain significance	not provided	2016-10-01	criteria provided, single submitter	clinical testing
Invitae	RCV001465303	SCV001669287	likely benign	Hypertrophic cardiomyopathy 1	2023-01-02	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV003338432	SCV004059667	likely benign	Inborn genetic diseases	2023-07-21	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.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000997764	SCV001743027	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000997764	SCV001926349	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000997764	SCV001955815	likely benign	not provided		no assertion criteria provided	clinical testing