Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000993519 | SCV000721335 | likely benign | not provided | 2020-12-17 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 24503780) |
Ambry Genetics | RCV000619886 | SCV000736526 | uncertain significance | Cardiovascular phenotype | 2017-06-20 | criteria provided, single submitter | clinical testing | The p.R23746C variant (also known as c.71236C>T), located in coding exon 179 of the TTN gene, results from a C to T substitution at nucleotide position 71236. The arginine at codon 23746 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Athena Diagnostics Inc | RCV000993519 | SCV001146556 | uncertain significance | not provided | 2018-12-31 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000993519 | SCV001152619 | uncertain significance | not provided | 2023-12-01 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000993519 | SCV003820336 | uncertain significance | not provided | 2022-08-22 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003317298 | SCV004020370 | uncertain significance | not specified | 2023-06-18 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV000993519 | SCV001807971 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000993519 | SCV001957944 | uncertain significance | not provided | no assertion criteria provided | clinical testing |