Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000036054 | SCV000059706 | benign | not specified | 2015-04-20 | criteria provided, single submitter | clinical testing | c.1554+8G>A in intron 13 of MYO7A: This variant is not expected to have clinical significance because it is not located within the conserved region of the splic e consensus sequence and has been identified in 1.7% (5/298) of Finnish chromoso mes and in 0.4% (33/8958) of European chromosomes by the Exome Aggregation Conso rtium (ExAC, http://exac.broadinstitute.org; dbSNP rs111033227. |
EGL Genetic Diagnostics, |
RCV000724629 | SCV000225763 | uncertain significance | not provided | 2015-03-11 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000036054 | SCV000729221 | likely benign | not specified | 2017-08-04 | 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 | RCV000724629 | SCV001096748 | benign | not provided | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000724629 | SCV001247932 | likely benign | not provided | 2019-09-01 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV001112496 | SCV001270159 | uncertain significance | 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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Illumina Clinical Services Laboratory, |
RCV001112497 | SCV001270160 | uncertain significance | 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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Illumina Clinical Services Laboratory, |
RCV001112498 | SCV001270161 | likely 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). 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. |