Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000251411 | SCV000310347 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Gene |
RCV000831351 | SCV000973093 | benign | not provided | 2018-06-13 | 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- |
RCV001660252 | SCV001875717 | benign | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma | 2021-07-30 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001660255 | SCV001875718 | benign | Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis | 2021-07-30 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001660254 | SCV001875719 | benign | Lethal acantholytic epidermolysis bullosa | 2021-07-30 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001660251 | SCV001875720 | benign | Keratosis palmoplantaris striata 2 | 2021-07-30 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001660253 | SCV001875721 | benign | Woolly hair-skin fragility syndrome | 2021-07-30 | criteria provided, single submitter | clinical testing |