Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000442333 | SCV000515355 | likely benign | not specified | 2015-10-26 | 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. |
Invitae | RCV000641838 | SCV000763488 | likely benign | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 | 2023-06-25 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001180317 | SCV001345216 | likely benign | Cardiomyopathy | 2018-11-30 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001530996 | SCV001745921 | likely benign | not provided | 2021-03-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002365482 | SCV002624220 | likely benign | Cardiovascular phenotype | 2020-08-05 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Fulgent Genetics, |
RCV002480288 | SCV002796640 | 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 | 2021-09-14 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000442333 | SCV003844633 | likely benign | not specified | 2023-02-13 | criteria provided, single submitter | clinical testing |