Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000036611 | SCV000060266 | uncertain significance | not specified | 2011-10-14 | criteria provided, single submitter | clinical testing | The 690-13_690-11delCTT variant has not been previously reported nor previously identified by our laboratory. This variant is located in the 3' splice region b ut does not affect the highly conserved -1 and -2 positions. Positions -3 and - 5 to -12 are part of the splicing consensus sequence and variants involving thes e positions can sometimes affect splicing. |
Gene |
RCV000036611 | SCV000565618 | likely benign | not specified | 2016-02-25 | 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. |
Color Diagnostics, |
RCV001189709 | SCV001357059 | likely benign | Cardiomyopathy | 2019-03-19 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001811246 | SCV001470941 | uncertain significance | not provided | 2019-11-11 | criteria provided, single submitter | clinical testing | The TNNT2 c.690-13_690-11delCTT variant (rs397516480), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 43663). This variant is found in the African population with an allele frequency of 0.10% (25/24942 alleles) in the Genome Aggregation Database. This is an intronic variant that deletes 3 nucleotides, and computational analyses (Alamut v.2.11) predict that this variant may impact splicing by weakening the nearby canonical acceptor splice site. Due to limited information, the clinical significance of the c.690-13_690-11delCTT variant is uncertain at this time. |
Invitae | RCV002054593 | SCV002357416 | benign | Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy 1D; Cardiomyopathy, familial restrictive, 3 | 2023-12-28 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV001189709 | SCV004818614 | likely benign | Cardiomyopathy | 2023-12-18 | criteria provided, single submitter | clinical testing |