Submissions for variant NM_014391.3(ANKRD1):c.208-15G>A

gnomAD frequency: 0.00184  dbSNP: rs116511484

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000038847	SCV000062525	likely benign	not specified	2012-04-17	criteria provided, single submitter	clinical testing	208-15G>A in Intron 02 of ANKRD1: This variant is not expected to have clinical significance because it has been identified in 0.6% (24/3726) of African America n chromosomes from a broad population by the NHLBI Exome Sequencing Project (htt p://evs.gs.washington.edu/EVS; dbSNP rs116511484). 208-15G>A in Intron 02 of AN KRD1 (allele frequency = 0.6%, 24/3726; dbSNP rs116511484) **
GeneDx	RCV000038847	SCV000166993	benign	not specified	2014-05-16	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae	RCV002054719	SCV002406100	benign	ANKRD1-related dilated cardiomyopathy	2024-01-13	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000038847	SCV001919570	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000038847	SCV001930842	benign	not specified		no assertion criteria provided	clinical testing