Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
King Laboratory, |
RCV001809892 | SCV002059923 | likely pathogenic | Autosomal recessive nonsyndromic hearing loss 2 | 2020-08-01 | criteria provided, single submitter | research | MYO7A c.2187+1G>T is predicted to disrupt the splice donor of MYO7A exon 18 resulting in a 93bp message deletion and loss of aa 699-729 of the myosin motor domain (Abu Rayyan 2020). The variant is homozygous in a Palestinian child with pre-lingual hearing loss. It is absent from 1300 Palestinian controls and from gnomAD v2.1.1. |
Sharon lab, |
RCV001003085 | SCV001161144 | pathogenic | Usher syndrome type 1 | 2019-06-23 | no assertion criteria provided | research |