ClinVar Miner

Submissions for variant NM_014391.3(ANKRD1):c.346-17_346-10del

dbSNP: rs397517250
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham 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).
Labcorp Genetics (formerly Invitae), Labcorp RCV000204566 SCV000261951 benign ANKRD1-related dilated cardiomyopathy 2024-01-19 criteria provided, single submitter clinical testing
Illumina Laboratory Services, 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
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, 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
Clinical Genetics, Academic Medical Center RCV000038849 SCV001918724 benign not specified no assertion criteria provided clinical testing

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