Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000526690 | SCV000643909 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-12-09 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002367868 | SCV002663440 | uncertain significance | Cardiovascular phenotype | 2020-06-10 | criteria provided, single submitter | clinical testing | The p.F22023V variant (also known as c.66067T>G), located in coding exon 166 of the TTN gene, results from a T to G substitution at nucleotide position 66067. The phenylalanine at codon 22023 is replaced by valine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Fulgent Genetics, |
RCV002491055 | SCV002797093 | 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 | 2021-07-01 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV001700147 | SCV003823646 | uncertain significance | not provided | 2020-03-18 | criteria provided, single submitter | clinical testing | |
Clinical Genetics, |
RCV001700147 | SCV001925079 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001700147 | SCV001971947 | uncertain significance | not provided | no assertion criteria provided | clinical testing |