Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000155440 | SCV000205130 | likely benign | not specified | 2015-09-08 | criteria provided, single submitter | clinical testing | p.Tyr263Tyr in Exon 9A of TMPRSS3: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wi thin the splice consensus sequence, and has been identified in 27/118642 chromos omes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs147181936). |
Illumina Laboratory Services, |
RCV001137712 | SCV001297685 | uncertain significance | Autosomal recessive nonsyndromic hearing loss 8 | 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. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Gene |
RCV001567613 | SCV001791332 | likely benign | not provided | 2021-03-25 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 11907649) |
Labcorp Genetics |
RCV001567613 | SCV002337271 | likely benign | not provided | 2024-01-24 | criteria provided, single submitter | clinical testing |