Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000364091 | SCV000343163 | uncertain significance | not provided | 2017-09-19 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000825185 | SCV000966459 | likely benign | not specified | 2018-04-18 | criteria provided, single submitter | clinical testing | p.Leu130His in exon 2 of MARVELD2: This variant is not expected to have clinical significance because it has been identified in 0.4% (86/24016) of African chrom osomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute. org; dbSNP rs144717803) and due to a lack of conservation across species, includ ing mammals. ACMG/AMP criteria applied: BS1; BP4. |
Gene |
RCV000364091 | SCV000983804 | likely benign | not provided | 2018-04-19 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Invitae | RCV000364091 | SCV004270647 | likely benign | not provided | 2023-12-12 | criteria provided, single submitter | clinical testing |