Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000036635 | SCV000060290 | likely benign | not specified | 2011-11-09 | criteria provided, single submitter | clinical testing | Glu40Glu in exon 1 of TPM1: This variant does not change an amino acid and does not affect the splice consensus sequence. This makes a disease causing role very unlikely. |
Color Diagnostics, |
RCV000777962 | SCV000914063 | likely benign | Cardiomyopathy | 2018-09-24 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001642558 | SCV001860162 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001642558 | SCV002063432 | likely benign | not provided | 2024-03-01 | criteria provided, single submitter | clinical testing | TPM1: BP4, BP7, BS1 |
Prevention |
RCV003934900 | SCV004749489 | likely benign | TPM1-related condition | 2019-06-21 | 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). |
Clinical Genetics, |
RCV000036635 | SCV001923365 | benign | not specified | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV001642558 | SCV001931419 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV001642558 | SCV001957760 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001642558 | SCV001971782 | likely benign | not provided | no assertion criteria provided | clinical testing |