Submissions for variant NM_014391.3(ANKRD1):c.319G>T (p.Val107Leu)

gnomAD frequency: 0.00269  dbSNP: rs114435632

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	RCV000172740	SCV000051364	benign	Primary dilated cardiomyopathy	2013-06-24	criteria provided, single submitter	research
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000038848	SCV000062526	likely benign	not specified	2015-08-21	criteria provided, single submitter	clinical testing	p.Val107Leu in exon 3 of ANKRD1: This variant is not expected to have clinical s ignificance because it has been identified in 0.8% (81/10346) of African chromos omes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs114435632).
GeneDx	RCV001701651	SCV000235710	likely benign	not provided	2020-10-07	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 23299917, 20981092, 19608030, 19608032, 27143260, 27896284)
Invitae	RCV000468471	SCV000563270	benign	ANKRD1-related dilated cardiomyopathy	2024-01-24	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000620745	SCV000735851	likely benign	Cardiovascular phenotype	2018-08-30	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.
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	RCV000038848	SCV000740550	benign	not specified	2016-08-30	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000770307	SCV000901740	likely benign	Cardiomyopathy	2017-02-16	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001701651	SCV001156623	likely benign	not provided	2021-04-13	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000038848	SCV004038186	likely benign	not specified	2023-08-19	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000038848	SCV001921750	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001701651	SCV001931830	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001701651	SCV001951424	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001701651	SCV001966606	likely benign	not provided		no assertion criteria provided	clinical testing