Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000675603 | SCV000577361 | benign | not provided | 2018-09-28 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 27939258, 27238910) |
Invitae | RCV000708550 | SCV000837661 | other | Mucopolysaccharidosis type 1 | 2018-12-19 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002527033 | SCV003632591 | likely benign | Inborn genetic diseases | 2021-11-19 | 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. |
Mayo Clinic Laboratories, |
RCV000675603 | SCV000801300 | uncertain significance | not provided | 2017-05-16 | no assertion criteria provided | clinical testing | |
Natera, |
RCV000708550 | SCV001457277 | benign | Mucopolysaccharidosis type 1 | 2020-04-23 | no assertion criteria provided | clinical testing | |
Gene |
RCV000708550 | SCV002016348 | not provided | Mucopolysaccharidosis type 1 | no assertion provided | literature only | Pseudodeficiency variants |