Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000206658 | SCV000261781 | benign | Alstrom syndrome | 2017-12-21 | criteria provided, single submitter | clinical testing | |
Center for Pediatric Genomic Medicine, |
RCV000224052 | SCV000280731 | benign | not provided | 2015-12-22 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000437592 | SCV000529303 | benign | not specified | 2016-10-12 | 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. |
Personalized Diabetes Medicine Program, |
RCV000445530 | SCV000536993 | benign | Monogenic diabetes | 2016-01-29 | criteria provided, single submitter | research | ACMG Criteria: BS1 (1000G AFR), BS2 (type2diabetesgenetics.org), BP4 |
Laboratory for Molecular Medicine, |
RCV000437592 | SCV000711831 | benign | not specified | 2016-03-21 | criteria provided, single submitter | clinical testing | p.Gly3755Ser in exon 16 of ALMS1: This variant is not expected to have clinical significance because it has been identified in 6.45% (623/9664) of African chrom osomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org ; dbSNP rs34927702). |