Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000205225 | SCV000262079 | benign | Alstrom syndrome | 2017-12-28 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000424086 | SCV000532098 | benign | not specified | 2016-10-10 | 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, |
RCV000445470 | SCV000536989 | likely benign | Monogenic diabetes | 2016-06-07 | criteria provided, single submitter | research | ACMG Criteria: PP3, BS1, BP4 |
Athena Diagnostics Inc | RCV000710528 | SCV000840767 | benign | not provided | 2018-05-23 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000424086 | SCV000967041 | benign | not specified | 2016-03-21 | criteria provided, single submitter | clinical testing | p.Lys3434Glu in exon 15 of ALMS1: This variant is not expected to have clinical significance because it has been identified in 5.77% (565/9788) of African chrom osomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org ; dbSNP rs34071195). |