Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biesecker Lab/Clinical Genomics Section, |
RCV000041007 | SCV000051496 | benign | not specified | 2013-06-24 | criteria provided, single submitter | research | |
Laboratory for Molecular Medicine, |
RCV000041007 | SCV000064698 | benign | not specified | 2015-03-20 | criteria provided, single submitter | clinical testing | Thr3914Arg in exon 45A of TTN: This variant is not expected to have clinical sig nificance because it has been identified in 1.1% (106/10028) of African chromoso mes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; d bSNP rs116593093). |
Gene |
RCV000041007 | SCV000169551 | benign | not specified | 2014-05-12 | 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. |
Ce |
RCV001171817 | SCV001334683 | likely benign | not provided | 2024-03-01 | criteria provided, single submitter | clinical testing | TTN: BP4, BS2 |
ARUP Laboratories, |
RCV001171817 | SCV002049869 | likely benign | not provided | 2021-05-07 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003924984 | SCV004740494 | benign | TTN-related condition | 2019-05-29 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Diagnostic Laboratory, |
RCV000041007 | SCV001739935 | benign | not specified | no assertion criteria provided | clinical testing | ||
Laboratory of Diagnostic Genome Analysis, |
RCV001171817 | SCV001800033 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics, |
RCV000041007 | SCV001917906 | benign | not specified | no assertion criteria provided | clinical testing |