Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
King Laboratory, |
RCV000454219 | SCV002059900 | likely pathogenic | Autosomal recessive nonsyndromic hearing loss 12 | 2020-08-01 | criteria provided, single submitter | research | CDH23 c.683A>T, p.D228V alters a residue of CDH23 completely conserved in all sequenced vertebrates. The variant is homozygous in 2 Palestinian children with profound pre-lingual hearing loss (Abu Rayyan 2020). The variant is absent from 1300 Palestinian controls and from gnomAD v2.1.1. |
Hereditary Research Laboratory, |
RCV000454219 | SCV000538083 | pathogenic | Autosomal recessive nonsyndromic hearing loss 12 | 2016-06-04 | no assertion criteria provided | research | profound |