Submissions for variant NM_014391.3(ANKRD1):c.346-29_346-12del

dbSNP: rs72003210

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000265535	SCV000366038	uncertain significance	Dilated Cardiomyopathy, Dominant	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000265535	SCV000366042	uncertain significance	Dilated Cardiomyopathy, Dominant	2016-06-14	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000455661	SCV000538286	benign	not specified	2016-04-25	criteria provided, single submitter	clinical testing	Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000603001	SCV000743704	benign	Congenital total pulmonary venous return anomaly	2016-09-06	criteria provided, single submitter	clinical testing
GeneDx	RCV001612950	SCV001837497	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Invitae	RCV002056151	SCV002438242	benign	ANKRD1-related dilated cardiomyopathy	2024-02-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002460066	SCV002618363	likely benign	Cardiovascular phenotype	2015-09-28	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.
PreventionGenetics, part of Exact Sciences	RCV003983002	SCV004796358	benign	ANKRD1-related disorder	2022-07-03	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000603001	SCV000732971	benign	Congenital total pulmonary venous return anomaly		no assertion criteria provided	clinical testing