Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000147460 | SCV000194896 | benign | not specified | 2013-02-08 | criteria provided, single submitter | clinical testing | |
SIB Swiss Institute of Bioinformatics | RCV000147460 | SCV000803553 | benign | not specified | 2018-05-31 | criteria provided, single submitter | curation | This variant is interpreted as a Benign - Stand Alone. The following ACMG Tag(s) were applied: BA1 => Allele frequency is >5% in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium. |
Athena Diagnostics Inc | RCV000713189 | SCV000843775 | benign | not provided | 2018-05-07 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000713189 | SCV001941873 | benign | not provided | 2018-07-27 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000713189 | SCV002402969 | benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | |
KCCC/NGS Laboratory, |
RCV003315933 | SCV004015431 | benign | Schinzel-Giedion syndrome | 2023-07-07 | criteria provided, single submitter | clinical testing |