Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular 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. |
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000606197 | SCV000745110 | likely benign | Congenital total pulmonary venous return anomaly | 2015-09-21 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000826980 | SCV000968586 | likely benign | not provided | 2020-11-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001452367 | SCV001656026 | likely benign | ANKRD1-related dilated cardiomyopathy | 2023-12-07 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003952440 | SCV004770405 | likely benign | ANKRD1-related condition | 2019-07-16 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Diagnostic Laboratory, |
RCV000606197 | SCV000732969 | likely benign | Congenital total pulmonary venous return anomaly | no assertion criteria provided | clinical testing | ||
Clinical Genetics, |
RCV000038854 | SCV001924479 | benign | not specified | no assertion criteria provided | clinical testing |