ClinVar Miner

Submissions for variant NM_014391.2(ANKRD1):c.346-15_346-14del (rs794728971)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000183287 SCV000235714 benign Cardiomyopathy 2013-02-27 criteria provided, single submitter clinical testing The variant is found in DCM panel(s).
Illumina Clinical Services Laboratory,Illumina RCV000320750 SCV000366043 likely benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000320750 SCV000366044 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000483317 SCV000564555 benign not specified 2015-09-22 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.
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000625079 SCV000743706 benign Congenital total pulmonary venous return anomaly 2016-09-08 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000625079 SCV000743708 benign Congenital total pulmonary venous return anomaly 2016-11-28 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000852624 SCV000995328 benign Primary dilated cardiomyopathy 2019-06-11 criteria provided, single submitter clinical testing

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