Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001731333 | SCV001983160 | uncertain significance | not provided | 2021-09-28 | criteria provided, single submitter | clinical testing | Observed in patients with hearing loss in published literature; however, a second variant was not observed in one patient (Tayoun AN et al., 2016; Shen J et al., 2019); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 25388846, 26444186, 31160754) |
Integrating Genomics into Medicine, |
RCV001826561 | SCV003935278 | likely pathogenic | Autosomal recessive nonsyndromic hearing loss 1A | 2023-06-02 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000037819 | SCV000061481 | likely pathogenic | Rare genetic deafness | 2006-10-28 | no assertion criteria provided | clinical testing | |
Natera, |
RCV001826561 | SCV002086062 | likely pathogenic | Autosomal recessive nonsyndromic hearing loss 1A | 2021-03-11 | no assertion criteria provided | clinical testing |