Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000457684 | SCV000542929 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2016-05-26 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000765576 | SCV000896891 | 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 | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002393085 | SCV002697685 | uncertain significance | Cardiovascular phenotype | 2019-03-15 | criteria provided, single submitter | clinical testing | The p.R4662H variant (also known as c.13985G>A), located in coding exon 52 of the TTN gene, results from a G to A substitution at nucleotide position 13985. The arginine at codon 4662 is replaced by histidine, an amino acid with highly similar properties. 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. |
Mayo Clinic Laboratories, |
RCV001702492 | SCV004225878 | uncertain significance | not provided | 2023-04-14 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV001702492 | SCV001932900 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001702492 | SCV001973088 | uncertain significance | not provided | no assertion criteria provided | clinical testing |