Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV001181975 | SCV001347246 | likely benign | Cardiomyopathy | 2020-02-25 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001394807 | SCV001596497 | likely benign | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 | 2024-01-28 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001712873 | SCV001944689 | likely benign | not provided | 2018-07-09 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002491527 | SCV002803090 | 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 | 2021-07-20 | criteria provided, single submitter | clinical testing |