Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000037206 | SCV000060863 | benign | not specified | 2012-05-07 | criteria provided, single submitter | clinical testing | "Pro9Pro in Exon 01 of ATP6V1B1: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not located with in the splice consensus sequence, and has been identified in 15.4% (577/3738) of African American chromosomes from a broad population by the NHLBI Exome Sequenc ing Project (http://evs.gs.washington.edu/EVS; dbSNP rs17853498)." |
Illumina Laboratory Services, |
RCV000404834 | SCV000431627 | benign | Renal tubular acidosis with progressive nerve deafness | 2018-01-13 | 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. |
Gene |
RCV000037206 | SCV000732288 | 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. |
Invitae | RCV001522716 | SCV001732309 | benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000404834 | SCV001761690 | benign | Renal tubular acidosis with progressive nerve deafness | 2021-07-10 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000404834 | SCV001452516 | benign | Renal tubular acidosis with progressive nerve deafness | 2020-09-16 | no assertion criteria provided | clinical testing | |
Genome Diagnostics Laboratory, |
RCV000037206 | SCV001929613 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000037206 | SCV001957920 | benign | not specified | no assertion criteria provided | clinical testing |