Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000036331 | SCV000059983 | likely benign | not specified | 2012-03-19 | criteria provided, single submitter | clinical testing | Leu148Leu in exon 04 of TPM1: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 1/7020 European Amer ican chromosomes from a broad population by the NHLBI Exome Sequencing Project ( http://evs.gs.washington.edu/EVS). Leu148Leu in exon 04 of TPM1 (allele frequen cy = 1/7020) ** |
Gene |
RCV000828390 | SCV000970076 | likely benign | not provided | 2018-06-06 | 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, |
RCV001185544 | SCV001351790 | likely benign | Cardiomyopathy | 2019-11-12 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001422858 | SCV001625417 | likely benign | Hypertrophic cardiomyopathy | 2023-09-08 | criteria provided, single submitter | clinical testing |