ClinVar Miner

Submissions for variant NM_014391.2(ANKRD1):c.652-13del (rs3839929)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000254040 SCV000235719 benign not specified 2018-03-17 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.
PreventionGenetics,PreventionGenetics RCV000254040 SCV000312168 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000366751 SCV000366035 likely benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000588615 SCV000699380 benign not provided 2017-07-31 criteria provided, single submitter clinical testing Variant summary: The ANKRD1 c.652-13delT variant involves the alteration of a non-conserved intronic nucleotide. Mutation taster predicts a benign outcome for this variant. 3/5 splice prediction tools predict no significant impact on normal splicing. This variant was found in 18376/112060 control chromosomes (1459 homozygotes) from ExAC at a frequency of 0.1639836, which is approximately 4770 times the estimated maximal expected allele frequency of a pathogenic ANKRD1 variant (0.0000344), thus it is a common benign polymorphism. This variant has also been reported as a polymorphism in the literature (Arimura_2009). In addition, multiple clinical diagnostic laboratories/reputable databases have classified this variant as benign/likely benign. Taken together, this variant is classified as benign.

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