Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000179563 | SCV000231826 | uncertain significance | not provided | 2015-05-20 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000825798 | SCV000967267 | likely benign | not specified | 2018-08-08 | criteria provided, single submitter | clinical testing | The p.Arg193Ile variant in OTOF is classified as likely benign because it has be en identified in 0.4% (95/24028) of African chromosomes by the Genome Aggregatio n Database (gnomAD, http://gnomad.broadinstitute.org). ACMG/AMP Criteria applied : BS1. |
Gene |
RCV000179563 | SCV000980170 | likely benign | not provided | 2020-06-30 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000179563 | SCV002363614 | likely benign | not provided | 2024-01-17 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002515277 | SCV003543675 | uncertain significance | Inborn genetic diseases | 2021-11-09 | criteria provided, single submitter | clinical testing | The c.578G>T (p.R193I) alteration is located in exon 6 (coding exon 6) of the OTOF gene. This alteration results from a G to T substitution at nucleotide position 578, causing the arginine (R) at amino acid position 193 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |