Submissions for variant NM_000256.3(MYBPC3):c.506-12del

dbSNP: rs11570050

Total submissions: 17

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000035638	SCV000059289	benign	not specified	2011-07-20	criteria provided, single submitter	clinical testing
GeneDx	RCV001703458	SCV000207999	benign	not provided	2018-06-12	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 32841044)
Eurofins Ntd Llc (ga)	RCV000035638	SCV000230883	benign	not specified	2015-02-05	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000035638	SCV000303198	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000406222	SCV000372399	likely benign	Hypertrophic cardiomyopathy	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000299971	SCV000372400	likely benign	Left ventricular noncompaction cardiomyopathy	2016-06-14	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000599992	SCV000743580	benign	Hypertrophic cardiomyopathy 4	2014-10-09	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000599992	SCV000744876	benign	Hypertrophic cardiomyopathy 4	2015-09-21	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000775979	SCV000910500	benign	Cardiomyopathy	2018-04-08	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001775549	SCV002014348	benign	Left ventricular noncompaction 10	2021-09-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000599992	SCV002014349	benign	Hypertrophic cardiomyopathy 4	2021-09-05	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001703458	SCV002049607	benign	not provided	2023-11-29	criteria provided, single submitter	clinical testing
Invitae	RCV000406222	SCV002469607	benign	Hypertrophic cardiomyopathy	2024-02-01	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000599992	SCV000733071	benign	Hypertrophic cardiomyopathy 4		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000035638	SCV001921038	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000035638	SCV001951823	benign	not specified		no assertion criteria provided	clinical testing
Cohesion Phenomics	RCV000775979	SCV003800606	benign	Cardiomyopathy	2022-10-10	no assertion criteria provided	clinical testing