Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000246435 | SCV000302099 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Clinical Services Laboratory, |
RCV000401997 | SCV000428109 | likely benign | Alport syndrome | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
Gene |
RCV000246435 | SCV000723260 | benign | not specified | 2017-10-09 | 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. |
Athena Diagnostics Inc | RCV000710836 | SCV000841141 | benign | not provided | 2018-02-28 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000246435 | SCV000967069 | benign | not specified | 2016-03-21 | criteria provided, single submitter | clinical testing | p.Val670Ile in exon 26 of COL4A4: This variant is not expected to have clinical significance because it has been identified in 5.39% (526/9750) of African chrom osomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org ; dbSNP rs34236495). |
Invitae | RCV000710836 | SCV001111963 | benign | not provided | 2019-12-31 | criteria provided, single submitter | clinical testing |