Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Department of Human Genetics, |
RCV003224648 | SCV003919733 | uncertain significance | Autosomal recessive nonsyndromic hearing loss 8 | 2023-04-27 | criteria provided, single submitter | clinical testing | This missense variant is not yet known in the ClinVar, LOVD and Deafness Variation Database. The variant is also not listed in the population database gnomAD. An in silico analysis of this variation using the program REVEL showed no clear result. Literature data are currently not available. A final evaluation of this variant in the TMPRSS3 gene is not possible at present on the basis of the available data. |