Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000057192 | SCV001041071 | likely benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000990405 | SCV001141384 | uncertain significance | Amyotrophic lateral sclerosis type 1 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000057192 | SCV001988756 | benign | not provided | 2021-07-20 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 7849698, 28430856, 32293029) |
Ambry Genetics | RCV002453370 | SCV002735838 | likely benign | Inborn genetic diseases | 2019-09-26 | 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. |
Ce |
RCV000057192 | SCV004154845 | uncertain significance | not provided | 2023-03-01 | criteria provided, single submitter | clinical testing | |
Epithelial Biology; Institute of Medical Biology, |
RCV000057192 | SCV000088305 | not provided | not provided | no assertion provided | not provided |