Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biesecker Lab/Clinical Genomics Section, |
RCV000172211 | SCV000054904 | uncertain significance | not provided | 2013-06-24 | criteria provided, single submitter | research | |
Eurofins Ntd Llc |
RCV000172211 | SCV000701004 | uncertain significance | not provided | 2017-01-03 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002354434 | SCV002654496 | uncertain significance | Cardiovascular phenotype | 2020-03-17 | criteria provided, single submitter | clinical testing | The p.T20531S variant (also known as c.61592C>G), located in coding exon 159 of the TTN gene, results from a C to G substitution at nucleotide position 61592. The threonine at codon 20531 is replaced by serine, an amino acid with similar properties. This amino acid position is not 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. |
Athena Diagnostics Inc | RCV000172211 | SCV002770576 | uncertain significance | not provided | 2021-09-21 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002478554 | SCV002792813 | 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 | 2021-07-10 | criteria provided, single submitter | clinical testing |