Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000156529 | SCV000206248 | pathogenic | Rare genetic deafness | 2019-03-01 | criteria provided, single submitter | clinical testing | proposed classification - variant undergoing re-assessment, contact laboratory |
Counsyl | RCV000675175 | SCV000800802 | likely pathogenic | Pendred syndrome | 2018-01-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001785482 | SCV002026936 | likely pathogenic | Autosomal recessive nonsyndromic hearing loss 4 | 2021-09-05 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000675175 | SCV002026937 | likely pathogenic | Pendred syndrome | 2021-09-05 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV001785482 | SCV004201955 | pathogenic | Autosomal recessive nonsyndromic hearing loss 4 | 2023-03-06 | criteria provided, single submitter | clinical testing |