Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000041520 | SCV000065215 | benign | not specified | 2010-10-06 | criteria provided, single submitter | clinical testing | Ala1083Pro in exon 26 of OTOF: This variant is not expected to have clinical sig nificance because this residue is not highly conserved across species and this v ariant has been reported as benign in two publications (Varga 2006, Rodriguez-Ba llesteros 2008). |
Gene |
RCV000992478 | SCV000717015 | benign | not provided | 2018-08-23 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 16371502, 18381613, 20301429) |
Athena Diagnostics Inc | RCV000992478 | SCV001144820 | benign | not provided | 2018-08-31 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000021056 | SCV001296765 | benign | Autosomal recessive nonsyndromic hearing loss 9 | 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. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign. |
ARUP Laboratories, |
RCV000992478 | SCV001472980 | benign | not provided | 2023-10-06 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000992478 | SCV002405495 | benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000021056 | SCV000041711 | not provided | Autosomal recessive nonsyndromic hearing loss 9 | no assertion provided | literature only |