Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000041593 | SCV000065288 | benign | not specified | 2011-09-12 | criteria provided, single submitter | clinical testing | Arg33Gln in exon 2 of OTOF: This variant has been reported in one study after id entification in a single hearing loss proband (Romanos 2006). However, this vari ant is not expected to have clinical significance because it is present in the d bSNP database (rs56332208) with a frequency of 6.8% (8/118 chromosomes) in the Y RI HapMap population and 1.1% (34/3098) in the ESP North American cohort. |
Prevention |
RCV000041593 | SCV000316875 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Gene |
RCV000883062 | SCV000618269 | benign | not provided | 2019-03-06 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 19461658, 29362361) |
Invitae | RCV000883062 | SCV001026337 | benign | not provided | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics | RCV000883062 | SCV001144829 | benign | not provided | 2018-08-31 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV001139475 | SCV001299631 | uncertain significance | Autosomal recessive nonsyndromic hearing loss 9 | 2017-04-28 | 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. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000041593 | SCV002051048 | likely benign | not specified | 2021-12-10 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000883062 | SCV003799339 | likely benign | not provided | 2023-11-22 | criteria provided, single submitter | clinical testing |