Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000466005 | SCV000542884 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2016-12-15 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000732238 | SCV000860161 | uncertain significance | not provided | 2018-03-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000732238 | SCV001758617 | uncertain significance | not provided | 2020-09-09 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002323681 | SCV002609900 | uncertain significance | Cardiovascular phenotype | 2019-12-04 | criteria provided, single submitter | clinical testing | The p.K10765R variant (also known as c.32294A>G), located in coding exon 128 of the TTN gene, results from an A to G substitution at nucleotide position 32294. The lysine at codon 10765 is replaced by arginine, an amino acid with highly similar 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. |
Fulgent Genetics, |
RCV002480354 | SCV002785603 | 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 | 2021-07-05 | criteria provided, single submitter | clinical testing |