Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000181351 | SCV000233651 | uncertain significance | not provided | 2022-07-12 | criteria provided, single submitter | clinical testing | Not observed at a significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Ambry Genetics | RCV002444729 | SCV002676712 | uncertain significance | Cardiovascular phenotype | 2022-06-06 | criteria provided, single submitter | clinical testing | The p.R2826C variant (also known as c.8476C>T), located in coding exon 24 of the DSP gene, results from a C to T substitution at nucleotide position 8476. The arginine at codon 2826 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is conserved. 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. |
Fulgent Genetics, |
RCV002485192 | SCV002784145 | uncertain significance | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8; Lethal acantholytic epidermolysis bullosa; Woolly hair-skin fragility syndrome; Keratosis palmoplantaris striata 2; Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis | 2022-04-05 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002515308 | SCV003276992 | likely benign | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 | 2023-11-10 | criteria provided, single submitter | clinical testing |