Total submissions: 6
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Laboratory for Molecular Medicine, |
RCV000213261 | SCV000271803 | likely benign | not specified | 2018-05-15 | criteria provided, single submitter | clinical testing | The p.Ile4043Thr variant in ADGRV1 has been previously reported by our laborator y in the heterozygous state in 3 individuals with hearing loss, but a variant af fecting the remaining copy of the gene was not identified. This variant has been identified in 21/122272 European chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org/; dbSNP rs375632680). Computational p rediction tools and conservation analysis suggest that the p.Ile4043Thr variant may not impact the protein with the site poorly conserved. Also, this gene is hi ghly polymorphic with very few pathogenic missense variants. In summary, this va riant meets criteria to be classified as likely benign. ACMG/AMP Criteria applie d: PM2_Supporting, BP4. |
| Athena Diagnostics | RCV000710425 | SCV000840639 | uncertain significance | not provided | 2018-01-24 | criteria provided, single submitter | clinical testing | |
| Fulgent Genetics, |
RCV000765849 | SCV000897245 | uncertain significance | Usher syndrome type 2C; Febrile seizures, familial, 4 | 2018-10-31 | criteria provided, single submitter | clinical testing | |
| Illumina Laboratory Services, |
RCV001153110 | SCV001314365 | uncertain significance | Usher syndrome type 2C | 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease. |
| Labcorp Genetics |
RCV000710425 | SCV002169236 | likely benign | not provided | 2024-08-28 | criteria provided, single submitter | clinical testing | |
| Gene |
RCV000710425 | SCV003845563 | uncertain significance | not provided | 2023-03-24 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |