Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000039139 | SCV000062821 | benign | not specified | 2013-11-05 | criteria provided, single submitter | clinical testing | Leu986Leu in Exon 26A of CDH23: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 5.0% (210/4234) of A frican American chromosomes from a broad population by the NHLBI Exome Sequencin g Project (http://evs.gs.washington.edu/EVS; dbSNP rs74702249). |
Gene |
RCV000039139 | SCV000512538 | benign | not specified | 2015-07-07 | 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 | RCV000962019 | SCV001109083 | benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000962019 | SCV001143505 | benign | not provided | 2018-11-12 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV001103519 | SCV001260285 | benign | Usher syndrome type 1D | 2017-04-27 | 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. |
Illumina Laboratory Services, |
RCV001103520 | SCV001260286 | likely benign | Autosomal recessive nonsyndromic hearing loss 12 | 2017-04-27 | 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
ARUP Laboratories, |
RCV000962019 | SCV001474424 | benign | not provided | 2023-11-22 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001271855 | SCV001453327 | benign | Usher syndrome type 1 | 2020-09-16 | no assertion criteria provided | clinical testing |