Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000036192 | SCV000059844 | benign | not specified | 2012-03-20 | criteria provided, single submitter | clinical testing | Leu1866Leu in exon 40 of MYO7A: 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, has been identified in 2.3% (82/3500) of Afric an American chromosomes in a broad population by the NHLBI Exome sequencing proj ect (http://evs.gs.washington.edu/EVS/; dbSNP rs111033504) and is reported as be nign in one publication (Jaijo 2009). |
EGL Genetic Diagnostics, |
RCV000036192 | SCV000860739 | likely benign | not specified | 2018-04-24 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000828195 | SCV000969878 | likely benign | not provided | 2018-04-06 | 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 | RCV000828195 | SCV001118391 | benign | not provided | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000828195 | SCV001148378 | likely benign | not provided | 2018-06-01 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV001109355 | SCV001266682 | likely benign | Deafness, autosomal recessive 2 | 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). 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 Clinical Services Laboratory, |
RCV001114998 | SCV001272930 | likely benign | Usher syndrome type 1 | 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). 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 Clinical Services Laboratory, |
RCV001114999 | SCV001272931 | benign | Deafness, autosomal dominant 11 | 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). 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 rule this variant out of causing disease. Therefore, this variant is classified as benign. |