Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000825234 | SCV000966518 | likely benign | not specified | 2017-08-23 | criteria provided, single submitter | clinical testing | p.Glu33Gln in exon 2 of SLC52A3: This variant is not expected to have clinical s ignificance because it has been identified in 0.61% (63/10320) of Latino chromos omes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs199861879). |
Invitae | RCV000877830 | SCV001020624 | likely benign | Brown-Vialetto-van Laere syndrome 1 | 2024-01-27 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001574251 | SCV001801039 | likely benign | not provided | 2020-10-14 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002381888 | SCV002694009 | likely benign | Inborn genetic diseases | 2020-12-19 | 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. |