Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000037210 | SCV000060867 | benign | not specified | 2012-05-07 | criteria provided, single submitter | clinical testing | Thr30Ile in Exon 01 of ATP6V1B1: This variant is not expected to have clinical s ignificance because it has been identified in 17.0% (1190/7020) of European Amer ican chromosomes from a broad population by the NHLBI Exome Sequencing Project ( http://evs.gs.washington.edu/EVS; dbSNP rs17720303). |
Prevention |
RCV000037210 | SCV000308006 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Eurofins Ntd Llc |
RCV000037210 | SCV000340158 | benign | not specified | 2016-03-28 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000365413 | SCV000431629 | 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 |
RCV000037210 | SCV000730649 | 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. |
Labcorp Genetics |
RCV001523718 | SCV001733486 | benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000365413 | SCV001761691 | benign | Renal tubular acidosis with progressive nerve deafness | 2021-07-10 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000037210 | SCV002051445 | likely benign | not specified | 2021-12-03 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV001523718 | SCV005257008 | likely benign | not provided | criteria provided, single submitter | not provided | ||
Natera, |
RCV000365413 | SCV001452517 | benign | Renal tubular acidosis with progressive nerve deafness | 2020-09-16 | no assertion criteria provided | clinical testing |