Submissions for variant NM_020297.4(ABCC9):c.1165-6dup

dbSNP: rs35857705

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000038582	SCV000062260	likely benign	not specified	2012-07-24	criteria provided, single submitter	clinical testing	1165-6_1165-5insT in intron 07 of ABCC9: This variant is not expected to have cl inical significance because it is located outside the conserved +/- 1, 2 region of the splicing consensus sequence and as part of a poly T stretch.
Eurofins Ntd Llc (ga)	RCV000824727	SCV000232689	uncertain significance	not provided	2014-09-03	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000406811	SCV000377540	uncertain significance	Familial atrial fibrillation	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000302937	SCV000377541	uncertain significance	Dilated Cardiomyopathy, Dominant	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000357777	SCV000377542	uncertain significance	Hypertrichotic osteochondrodysplasia Cantu type	2016-06-14	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000769379	SCV000900770	benign	Cardiomyopathy	2019-03-19	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001088765	SCV001001061	benign	Dilated cardiomyopathy 1O	2019-12-31	criteria provided, single submitter	clinical testing
GeneDx	RCV000824727	SCV001780224	likely benign	not provided	2019-08-11	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000038582	SCV001744764	benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000824727	SCV001798220	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000038582	SCV001929702	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000038582	SCV001954489	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000038582	SCV001970843	benign	not specified		no assertion criteria provided	clinical testing