Total submissions: 18
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000039308 | SCV000062992 | benign | not specified | 2009-06-12 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000039308 | SCV000167629 | benign | not specified | 2013-05-02 | 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. |
Prevention |
RCV000039308 | SCV000314004 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
RCV000363966 | SCV000363937 | likely benign | Retinitis pigmentosa-deafness syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000271717 | SCV000363938 | likely benign | Nonsyndromic Hearing Loss, Recessive | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000356182 | SCV000483079 | benign | Metachromatic leukodystrophy | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000261040 | SCV000483080 | benign | Encephalopathy due to prosaposin deficiency | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000316294 | SCV000483081 | benign | Galactosylceramide beta-galactosidase deficiency | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000389375 | SCV000483082 | benign | Atypical Gaucher Disease | 2016-06-14 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000086979 | SCV000883551 | benign | not provided | 2021-11-11 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000363966 | SCV001138083 | benign | Retinitis pigmentosa-deafness syndrome | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV001105085 | SCV001262003 | benign | Autosomal recessive nonsyndromic hearing loss 12 | 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. |
Illumina Laboratory Services, |
RCV001105086 | SCV001262004 | benign | Usher syndrome type 1D | 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. |
Invitae | RCV000086979 | SCV001726548 | benign | not provided | 2021-12-18 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001105086 | SCV001750281 | benign | Usher syndrome type 1D | 2021-07-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001105085 | SCV001750282 | benign | Autosomal recessive nonsyndromic hearing loss 12 | 2021-07-01 | criteria provided, single submitter | clinical testing | |
NEI Ophthalmic Genomics Laboratory, |
RCV000086979 | SCV000119232 | not provided | not provided | no assertion provided | not provided | ||
Natera, |
RCV001276927 | SCV001463584 | benign | Usher syndrome type 1 | 2020-09-16 | no assertion criteria provided | clinical testing |