ClinVar Miner

Submissions for variant NM_014391.2(ANKRD1):c.208-16C>T (rs79793575)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000123653 SCV000166992 benign not specified 2014-04-15 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000586701 SCV000699376 benign not provided 2017-07-31 criteria provided, single submitter clinical testing Variant summary: The ANKRD1 c.208-16C>T variant involves the alteration of a non-conserved intronic nucleotide. Mutation taster predicts a benign outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 547/108416 control chromosomes (19 homozygotes), predominantly observed in the East Asian subpopulation at a frequency of 0.067417 (509/7550; 18 homozygotes). This frequency is about 1961 times the estimated maximal expected allele frequency of a pathogenic ANKRD1 variant (0.0000344), suggesting this is likely a benign polymorphism found primarily in the populations of East Asian origin. In addition, one clinical diagnostic laboratory has classified this variant as benign. It has also been published as a polymorphism in the literature (Arimura_2009). Taken together, this variant is classified as benign.
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000612863 SCV000745112 benign Congenital total pulmonary venous return anomaly 2015-09-21 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000612863 SCV000732973 likely benign Congenital total pulmonary venous return anomaly no assertion criteria provided clinical testing

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