Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001239674 | SCV001412565 | likely benign | Duchenne muscular dystrophy | 2023-12-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002418820 | SCV002676428 | uncertain significance | Cardiovascular phenotype | 2022-09-13 | criteria provided, single submitter | clinical testing | The p.R2649W variant (also known as c.7945C>T), located in coding exon 54 of the DMD gene, results from a C to T substitution at nucleotide position 7945. The arginine at codon 2649 is replaced by tryptophan, an amino acid with dissimilar properties. Based on data from gnomAD, the T allele has an overall frequency of <0.01% (1/183232) total alleles studied, with 1 hemizygote(s) observed. The highest observed frequency was <0.01% (1/81735) of European (non-Finnish) alleles. 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. |
Revvity Omics, |
RCV003145460 | SCV003830023 | uncertain significance | not provided | 2019-11-14 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001828929 | SCV002087721 | uncertain significance | Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency | 2019-06-29 | no assertion criteria provided | clinical testing |