Total submissions: 12
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000081667 | SCV000113598 | benign | not specified | 2013-12-17 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000081667 | SCV000169880 | benign | not specified | 2012-05-11 | 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. |
Genetic Services Laboratory, |
RCV000147999 | SCV000195496 | likely benign | Mowat-Wilson syndrome | 2013-04-10 | criteria provided, single submitter | clinical testing | |
Molecular Genetics Laboratory, |
RCV000081667 | SCV000221259 | benign | not specified | 2015-03-02 | criteria provided, single submitter | clinical testing | This variant was interpreted as benign based on ACMG evidence categories BS1 BS2. |
Center for Pediatric Genomic Medicine, |
RCV000224615 | SCV000281233 | benign | not provided | 2014-12-09 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000147999 | SCV000289999 | benign | Mowat-Wilson syndrome | 2025-02-03 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics | RCV000081667 | SCV001475087 | benign | not specified | 2024-07-31 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000147999 | SCV002045662 | benign | Mowat-Wilson syndrome | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV000224615 | SCV005255786 | likely benign | not provided | criteria provided, single submitter | not provided | ||
Genomic Diagnostic Laboratory, |
RCV000081667 | SCV000218436 | benign | not specified | 2015-01-30 | no assertion criteria provided | clinical testing | |
Laboratory of Diagnostic Genome Analysis, |
RCV000224615 | SCV001798747 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000081667 | SCV001930181 | benign | not specified | no assertion criteria provided | clinical testing |