Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000298559 | SCV000393835 | uncertain significance | Tay-Sachs disease | 2016-06-14 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000860701 | SCV001157549 | likely benign | not provided | 2023-08-21 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000298559 | SCV001625351 | likely benign | Tay-Sachs disease | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000298559 | SCV001786790 | likely benign | Tay-Sachs disease | 2021-07-14 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002450874 | SCV002739655 | likely benign | Inborn genetic diseases | 2022-05-06 | 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 |
RCV000860701 | SCV004132779 | likely benign | not provided | 2023-04-01 | criteria provided, single submitter | clinical testing | HEXA: BP4, BP7, BS2 |
Natera, |
RCV000298559 | SCV001461905 | uncertain significance | Tay-Sachs disease | 2018-04-20 | no assertion criteria provided | clinical testing |