Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000039610 | SCV000063299 | benign | not specified | 2015-02-02 | criteria provided, single submitter | clinical testing | Val2203Ala in exon 30 of GPR98: This variant is not expected to have clinical si gnificance because it has been identified in 1% (121/12344) of South Asian chro mosomes with 2 homozygotes by the Exome Aggregation Consortium (ExAC, http://exa c.broadinstitute.org. |
Eurofins Ntd Llc |
RCV000039610 | SCV000336108 | benign | not specified | 2015-10-16 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000585498 | SCV000693177 | benign | not provided | 2022-10-01 | criteria provided, single submitter | clinical testing | ADGRV1: BP4, BS1, BS2 |
Gene |
RCV000585498 | SCV000969514 | benign | not provided | 2018-06-12 | 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 | RCV000585498 | SCV001100878 | benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV001156988 | SCV001318530 | likely benign | Usher syndrome type 2C | 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease. |
Clinical Genetics, |
RCV000039610 | SCV001926239 | benign | not specified | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000585498 | SCV001928713 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Diagnostic Laboratory, |
RCV000585498 | SCV001962993 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000585498 | SCV001964600 | likely benign | not provided | no assertion criteria provided | clinical testing |