Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Soonchunhyang University Bucheon Hospital, |
RCV000490327 | SCV000267533 | uncertain significance | Autosomal recessive nonsyndromic hearing loss 8 | 2016-03-18 | criteria provided, single submitter | reference population | |
Laboratory for Molecular Medicine, |
RCV000215952 | SCV000269877 | benign | not specified | 2016-03-03 | criteria provided, single submitter | clinical testing | p.Phe71Ser in exon 4 of TMPRSS3: This variant is not expected to have clinical s ignificance because it has been identified in 1.0% (90/8612) of East Asian chrom osomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org ; dbSNP rs185332310). |
Illumina Laboratory Services, |
RCV000490327 | SCV001303029 | 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. |
Labcorp Genetics |
RCV001511141 | SCV001718333 | benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001511141 | SCV001756959 | benign | not provided | 2021-03-30 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 23958653, 30245029, 25770132, 23967202) |