ClinVar Miner

Submissions for variant NM_014391.2(ANKRD1):c.346-17_346-10del (rs397517250)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038849 SCV000062527 likely benign not specified 2013-02-20 criteria provided, single submitter clinical testing The c.346-17_346-10del variant in ANKRD1 has not been reported in the literature nor previously identified by our laboratory. This variant is located in a rep etitive region in intron 3 that contains several other common deletions and has been detected in 2/100 control chromosomes tested by our laboratory. Based on t he overall evidence for variants affecting this region and its frequency in cont rols this variant is likely benign.
GeneDx RCV000183286 SCV000235713 benign Cardiomyopathy 2013-04-08 criteria provided, single submitter clinical testing The variant is found in DCM panel(s).
Invitae RCV000204566 SCV000261951 benign ANKRD1-related dilated cardiomyopathy 2016-03-29 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000328801 SCV000366040 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000614440 SCV000743702 benign Congenital total pulmonary venous return anomaly 2016-10-26 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000614440 SCV000745111 benign Congenital total pulmonary venous return anomaly 2017-10-11 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000614440 SCV000732970 benign Congenital total pulmonary venous return anomaly no assertion criteria provided clinical testing

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