Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000868248 | SCV001009552 | likely benign | Duchenne muscular dystrophy | 2024-12-23 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004027717 | SCV005021405 | uncertain significance | Cardiovascular phenotype | 2024-02-22 | criteria provided, single submitter | clinical testing | The c.2985C>T variant (also known as p.G995G), located in coding exon 23 of the DMD gene, results from a C to T substitution at nucleotide position 2985. This nucleotide substitution does not change the glycine at codon 995. Based on data from gnomAD, the T allele has an overall frequency of <0.01% (4/203927) total alleles studied, with 2 hemizygote(s) observed. The highest observed frequency was <0.01% (4/91699) of European (non-Finnish) alleles. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis for this alteration is inconclusive. Based on the available evidence, the clinical significance of this alteration remains unclear. |
Natera, |
RCV001830899 | SCV002089007 | likely benign | Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency | 2020-07-01 | no assertion criteria provided | clinical testing |