Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001719119 | SCV000730172 | likely benign | not provided | 2020-01-20 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001396616 | SCV001598351 | likely benign | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 | 2022-07-15 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002491298 | SCV002801959 | likely benign | 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 | 2021-08-25 | criteria provided, single submitter | clinical testing |