Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000454480 | SCV000539269 | benign | not specified | 2016-03-28 | criteria provided, single submitter | clinical testing | Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency in 1000Genomes: 1966/2178= 90.26% |
ARUP Laboratories, |
RCV000454480 | SCV001159015 | benign | not specified | 2018-07-05 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001618692 | SCV001843809 | benign | not provided | 2018-07-09 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 15365991) |
Breakthrough Genomics, |
RCV001618692 | SCV005294247 | benign | not provided | criteria provided, single submitter | not provided | ||
The ITHANET community portal, |
RCV001078238 | SCV001244380 | benign | alpha Thalassemia | 2019-11-25 | no assertion criteria provided | curation |