Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mayo Clinic Laboratories, |
RCV002261701 | SCV002541917 | uncertain significance | not provided | 2021-12-21 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002373058 | SCV002667984 | uncertain significance | Cardiovascular phenotype | 2020-02-28 | criteria provided, single submitter | clinical testing | The p.P23247S variant (also known as c.69739C>T), located in coding exon 175 of the TTN gene, results from a C to T substitution at nucleotide position 69739. The proline at codon 23247 is replaced by serine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species; however, serine is the reference amino acid in other 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. |
Fulgent Genetics, |
RCV002481069 | SCV002780264 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 | 2021-08-12 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV002261701 | SCV003826667 | uncertain significance | not provided | 2022-10-17 | criteria provided, single submitter | clinical testing |