Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000687198 | SCV000814752 | likely benign | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 | 2023-05-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002352121 | SCV002647749 | uncertain significance | Cardiovascular phenotype | 2021-10-12 | criteria provided, single submitter | clinical testing | The p.Y1947H variant (also known as c.5839T>C), located in coding exon 24 of the DSP gene, results from a T to C substitution at nucleotide position 5839. The tyrosine at codon 1947 is replaced by histidine, 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. |
Fulgent Genetics, |
RCV002493150 | SCV002789434 | 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 | 2021-09-14 | criteria provided, single submitter | clinical testing |