Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000036636 | SCV000060291 | benign | not specified | 2017-12-08 | criteria provided, single submitter | clinical testing | p.Asp58Asp in exon 1A of TPM1: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 0.2% (37/15892) of African chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.b roadinstitute.org; dbSNP rs74573041) BA1, BP4, BP7 |
Color Diagnostics, |
RCV001182250 | SCV001347638 | benign | Cardiomyopathy | 2018-10-15 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001711105 | SCV001940223 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001711105 | SCV004010375 | likely benign | not provided | 2024-01-01 | criteria provided, single submitter | clinical testing | TPM1: BP4, BS1 |
Clinical Genetics, |
RCV000036636 | SCV001978941 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV001711105 | SCV001979406 | likely benign | not provided | no assertion criteria provided | clinical testing |