Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000359067 | SCV000345347 | uncertain significance | not provided | 2016-09-06 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002374488 | SCV002685110 | uncertain significance | Cardiovascular phenotype | 2019-06-27 | criteria provided, single submitter | clinical testing | The c.8764C>T variant (also known as p.P2922S), located in coding exon 35 of the TTN gene, results from a C to T substitution at nucleotide position 8764. The amino acid change results in proline to serine at codon 2922, an amino acid with similar properties. However, this change occurs in the last base pair of coding exon 35, which makes it likely to have some effect on normal mRNA splicing. This amino acid position is highly 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. |
Fulgent Genetics, |
RCV002480057 | SCV002786098 | 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 | 2021-09-16 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000359067 | SCV003819565 | uncertain significance | not provided | 2019-06-26 | criteria provided, single submitter | clinical testing |