Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000039267 | SCV000062951 | benign | not specified | 2011-09-12 | criteria provided, single submitter | clinical testing | Arg2489Arg in exon 53 of CDH23: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located near a splice junction and is listed is dbSNP (rs111033289) with a frequency of 15% ( 18/120 chromosomes) in the East Asian population and 3.9% (49/1256 chromosomes) in the general population. |
Gene |
RCV000039267 | SCV000167623 | benign | not specified | 2013-04-08 | 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. |
Illumina Laboratory Services, |
RCV000377904 | SCV000363863 | benign | Usher syndrome type 1D | 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. |
Illumina Laboratory Services, |
RCV000285813 | SCV000363864 | likely benign | Autosomal recessive nonsyndromic hearing loss 12 | 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. |
ARUP Laboratories, |
RCV001511045 | SCV001156998 | benign | not provided | 2023-10-09 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001511045 | SCV001718225 | benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000377904 | SCV001750580 | benign | Usher syndrome type 1D | 2021-07-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000285813 | SCV001750581 | benign | Autosomal recessive nonsyndromic hearing loss 12 | 2021-07-01 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001274912 | SCV001459465 | benign | Usher syndrome type 1 | 2020-09-16 | no assertion criteria provided | clinical testing |