Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000118962 | SCV000153632 | uncertain significance | not provided | 2014-01-24 | criteria provided, single submitter | clinical testing | |
Genomic Diagnostic Laboratory, |
RCV000238839 | SCV000296984 | benign | not specified | 2015-11-06 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000238839 | SCV000540706 | likely 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 0.98% in European population (ExAC) with 55 hemizygotes |
Ce |
RCV000118962 | SCV001156012 | uncertain significance | not provided | 2016-05-01 | criteria provided, single submitter | clinical testing | |
Diagnostic Laboratory, |
RCV000118962 | SCV001741715 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Laboratory of Diagnostic Genome Analysis, |
RCV000118962 | SCV001800751 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000118962 | SCV001969308 | likely benign | not provided | no assertion criteria provided | clinical testing |