Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biesecker Lab/Clinical Genomics Section, |
RCV000172477 | SCV000051343 | uncertain significance | not provided | 2013-06-24 | criteria provided, single submitter | research | |
Invitae | RCV000545984 | SCV000643169 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-11-28 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002326948 | SCV002629457 | uncertain significance | Cardiovascular phenotype | 2018-02-28 | criteria provided, single submitter | clinical testing | The p.R1395C variant (also known as c.4183C>T), located in coding exon 23 of the TTN gene, results from a C to T substitution at nucleotide position 4183. The arginine at codon 1395 is replaced by cysteine, an amino acid with highly dissimilar properties. This alteration has been reported as a secondary cardiac variant in an exome cohort (reported as p.R1441C (c.4321C>T)) (Ng D et al. Circ Cardiovasc Genet, 2013 Aug;6:337-46). This amino acid position is highly 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, |
RCV002485116 | SCV002794279 | 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 | 2021-08-13 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000172477 | SCV003827956 | uncertain significance | not provided | 2021-06-04 | criteria provided, single submitter | clinical testing |