Submissions for variant NM_014391.3(ANKRD1):c.346-19_346-14del

dbSNP: rs58762441

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000038850	SCV000062528	benign	not specified	2013-03-06	criteria provided, single submitter	clinical testing	346-19_346-14del in intron 3 of ANKRD1: This variant is not expected to have cli nical significance because it has been identified in 6% (6/100) of control chrom osomes by our laboratory (LMM unpublished data). In addition, this variant lies within a highly variable region of the intron where multiple deletions of variou s sizes identified in the general population have been observed, suggesting that variation in this region is tolerated.
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000625080	SCV000743707	benign	Congenital total pulmonary venous return anomaly	2016-05-11	criteria provided, single submitter	clinical testing
GeneDx	RCV001668163	SCV001883228	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Invitae	RCV002054720	SCV002448857	benign	ANKRD1-related dilated cardiomyopathy	2024-02-01	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000038850	SCV003928397	benign	not specified	2023-04-17	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000038850	SCV001917061	benign	not specified		no assertion criteria provided	clinical testing