Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000041422 | SCV000065117 | benign | not specified | 2015-01-26 | criteria provided, single submitter | clinical testing | p.Arg189Gln in exon 2 of USH1G: This variant is not expected to have clinical si gnificance because it has been identified in 0.8% (137/16376) of South Asian chr omosomes and 0.2% (113/63034) of European chromosomes by the Exome Aggregation C onsortium (ExAC, http://exac.broadinstitute.org; dbSNP rs201644674). |
Eurofins Ntd Llc |
RCV000041422 | SCV000335131 | likely benign | not specified | 2015-09-22 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000958231 | SCV001105060 | likely benign | not provided | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV001124409 | SCV001283356 | uncertain significance | Usher syndrome type 1G | 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. |
Gene |
RCV000958231 | SCV001960673 | benign | not provided | 2018-07-31 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 28912962) |