Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000825417 | SCV000966715 | uncertain significance | not specified | 2019-03-01 | criteria provided, single submitter | clinical testing | Variant classified as Uncertain Significance - Favor Benign. The p.Pro1485Leu variant in OTOF has not been previously reported in individuals with hearing loss or auditory neuropathy spectrum disorders, but has been identified in 0.16% (41/25120) of Finnish chromosomes by gnomAD (http://gnomad.broadinstitute.org). Computational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. In summary, while the clinical significance of this variant is uncertain, its frequency suggests it is more likely to be benign. ACMG/AMP Criteria applied: BS1_Supporting. |
Invitae | RCV003736914 | SCV004556899 | likely benign | not provided | 2024-01-13 | criteria provided, single submitter | clinical testing |