Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001083238 | SCV000651211 | benign | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000712544 | SCV000843059 | benign | not provided | 2018-03-14 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002311868 | SCV000847277 | likely benign | Inborn genetic diseases | 2016-07-24 | 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 |
RCV000712544 | SCV001335079 | likely benign | not provided | 2024-01-01 | criteria provided, single submitter | clinical testing | PIGN: BP4, BP7 |
Gene |
RCV000712544 | SCV001794023 | likely benign | not provided | 2020-10-13 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003905428 | SCV004720773 | likely benign | PIGN-related condition | 2019-06-28 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |