Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
SIB Swiss Institute of Bioinformatics | RCV000223953 | SCV000930076 | pathogenic | Autosomal recessive nonsyndromic hearing loss 32 | 2018-11-05 | criteria provided, single submitter | curation | This variant is interpreted as a Pathogenic for Deafness, autosomal recessive 32, with or without immotile sperm. The following ACMG Tag(s) were applied: PM2 : Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium. PVS1-Strong : PVS1 downgraded in strength to Strong. PP1-Strong : Segregation data PP1 upgraded to strong (PMID:27259055). |
Gene |
RCV002259325 | SCV002538833 | pathogenic | not provided | 2022-02-09 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 27259055, 31906439) |
OMIM | RCV000223953 | SCV000280585 | pathogenic | Autosomal recessive nonsyndromic hearing loss 32 | 2018-08-03 | no assertion criteria provided | literature only |