Total submissions: 11
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000247531 | SCV000302065 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
RCV000296144 | SCV000428167 | benign | Alport syndrome | 2018-01-12 | criteria provided, single submitter | clinical testing | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. |
Laboratory for Molecular Medicine, |
RCV000247531 | SCV000711925 | benign | not specified | 2016-03-21 | criteria provided, single submitter | clinical testing | p.Pro574Leu in exon 25 of COL4A3: This variant is not expected to have clinical significance because it has been identified in 58.90% (9722/16506) of South Asia n chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstit ute.org; dbSNP rs28381984). |
Gene |
RCV000247531 | SCV000732299 | benign | not specified | 2017-05-09 | 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. |
SIB Swiss Institute of Bioinformatics | RCV000247531 | SCV000803544 | 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 | RCV000247531 | SCV000841116 | benign | not specified | 2017-04-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001517853 | SCV001726439 | benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001527249 | SCV001738207 | benign | Autosomal recessive Alport syndrome | 2021-06-10 | criteria provided, single submitter | clinical testing | |
Diagnostic Laboratory, |
RCV000247531 | SCV001742778 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000247531 | SCV001958467 | benign | not specified | no assertion criteria provided | clinical testing | ||
Natera, |
RCV000296144 | SCV002076398 | benign | Alport syndrome | 2021-03-04 | no assertion criteria provided | clinical testing |