Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000249123 | SCV000310355 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Gene |
RCV000830291 | SCV000972026 | benign | not provided | 2018-06-15 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Genome- |
RCV001660262 | SCV001875739 | benign | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma | 2021-07-30 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001660265 | SCV001875740 | benign | Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis | 2021-07-30 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001660264 | SCV001875741 | benign | Lethal acantholytic epidermolysis bullosa | 2021-07-30 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001660261 | SCV001875742 | benign | Keratosis palmoplantaris striata 2 | 2021-07-30 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001660263 | SCV001875743 | benign | Woolly hair-skin fragility syndrome | 2021-07-30 | criteria provided, single submitter | clinical testing |