ClinVar Miner

Submissions for variant NM_014391.3(ANKRD1):c.652-10A>T (rs397517252)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038854 SCV000062532 uncertain significance not specified 2012-11-19 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The 652-10A>T varia nt in ANKRD1 has not been reported in the literature nor previously identified b y our laboratory. This variant is located in the 3' splice region. Computational tools do not suggest an impact to splicing and this variant is closer to the co nsensus sequence than the wild-type, though this information is not predictive e nough to rule out pathogenicity. In summary, this variant is more likely benign based on its location and predicted impact on splicing, but additional studies a re needed to fully assess its clinical significance.
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000606197 SCV000745110 likely benign Congenital total pulmonary venous return anomaly 2015-09-21 criteria provided, single submitter clinical testing
GeneDx RCV000826980 SCV000968586 likely benign not provided 2018-06-13 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.
Invitae RCV001452367 SCV001656026 likely benign ANKRD1-related dilated cardiomyopathy 2019-12-13 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000606197 SCV000732969 likely benign Congenital total pulmonary venous return anomaly no assertion criteria provided clinical testing

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