Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001535408 | SCV000238824 | benign | not provided | 2018-06-05 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000185872 | SCV000539117 | 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 ESP (all): 406/12518=3.24% |
Sing |
RCV000721998 | SCV000853160 | uncertain significance | Multiple acyl-CoA dehydrogenase deficiency | 2017-06-07 | no assertion criteria provided | curation |