Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000253201 | SCV000314309 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Gene |
RCV000837113 | SCV000978963 | benign | not provided | 2018-06-16 | 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. |
Genome- |
RCV000210050 | SCV002515029 | benign | Drash syndrome | 2021-12-05 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002243891 | SCV002515031 | benign | Frasier syndrome | 2021-12-05 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002243892 | SCV002515032 | benign | Meacham syndrome | 2021-12-05 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002243893 | SCV002515033 | benign | Nephrotic syndrome, type 4 | 2021-12-05 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002243890 | SCV002515034 | benign | Wilms tumor 1 | 2021-12-05 | criteria provided, single submitter | clinical testing | |
KCCC/NGS Laboratory, |
RCV002243890 | SCV004016259 | benign | Wilms tumor 1 | 2023-07-07 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV000837113 | SCV005323080 | benign | not provided | criteria provided, single submitter | not provided | ||
Human Genetics Disease in Children – Taif University, |
RCV000210050 | SCV000265970 | benign | Drash syndrome | 2016-01-01 | no assertion criteria provided | clinical testing |