Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000538658 | SCV000643352 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-08-04 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000658892 | SCV000780692 | likely benign | not provided | 2023-02-01 | criteria provided, single submitter | clinical testing | TTN: BP4 |
Eurofins Ntd Llc |
RCV000658892 | SCV000855317 | uncertain significance | not provided | 2018-08-10 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV000658892 | SCV001714653 | uncertain significance | not provided | 2019-06-17 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics | RCV000658892 | SCV001879660 | uncertain significance | not provided | 2020-12-30 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000658892 | SCV002044085 | likely benign | not provided | 2021-06-23 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 27535533) |
Ambry Genetics | RCV002456146 | SCV002739738 | uncertain significance | Cardiovascular phenotype | 2019-10-29 | criteria provided, single submitter | clinical testing | The p.K8953M variant (also known as c.26858A>T), located in coding exon 107 of the TTN gene, results from an A to T substitution at nucleotide position 26858. The lysine at codon 8953 is replaced by methionine, an amino acid with similar properties. This amino acid position is not 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. |
Revvity Omics, |
RCV000658892 | SCV003820158 | uncertain significance | not provided | 2023-03-13 | criteria provided, single submitter | clinical testing |