Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000039222 | SCV000062906 | benign | not specified | 2016-07-19 | criteria provided, single submitter | clinical testing | p.Thr1887Ile in exon 43 of CDH23: This variant is not expected to have clinical significance because it has been identified in 2.6% (431/16512) of South Asian c hromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute .org; dbSNP rs397517340). |
Invitae | RCV000912187 | SCV001057281 | benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV001107147 | SCV001264281 | likely benign | Autosomal recessive nonsyndromic hearing loss 12 | 2017-05-23 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
Illumina Laboratory Services, |
RCV001107148 | SCV001264282 | benign | Usher syndrome type 1D | 2017-05-23 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign. |
Gene |
RCV000912187 | SCV001885865 | benign | not provided | 2020-07-14 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 24416283, 30245029, 29148562) |
Ambry Genetics | RCV000210548 | SCV000262934 | uncertain significance | Inborn genetic diseases | flagged submission | clinical testing | Overall WES conclusion for patient, including all identified alterations: Uncertain | |
Natera, |
RCV001275562 | SCV001460811 | benign | Usher syndrome type 1 | 2020-04-16 | no assertion criteria provided | clinical testing | |
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation | RCV003389448 | SCV003927102 | likely pathogenic | Usher syndrome | 2022-12-31 | flagged submission | research |