Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000939451 | SCV001085295 | benign | not provided | 2024-01-29 | criteria provided, single submitter | clinical testing | |
| Illumina Laboratory Services, |
RCV001137237 | SCV001297159 | likely 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease. |
| Laboratory for Molecular Medicine, |
RCV001195295 | SCV001365612 | benign | not specified | 2019-09-25 | criteria provided, single submitter | clinical testing | The p.Gly14Ser variant in ATP6V1B1 is classified as benign because it has been identified in 0.69% (138/19944) of East Asian chromosomes by gnomAD (http://gnomad.broadinstitute.org). ACMG/AMP Criteria applied: BA1. |
| Gene |
RCV000939451 | SCV001804769 | likely benign | not provided | 2019-12-17 | criteria provided, single submitter | clinical testing | |
| Natera, |
RCV001137237 | SCV001459114 | uncertain significance | Renal tubular acidosis with progressive nerve deafness | 2019-12-24 | no assertion criteria provided | clinical testing |