Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV001171538 | SCV001334323 | likely pathogenic | Usher syndrome | 2020-05-26 | reviewed by expert panel | curation | The c.6446C>A (p.Pro2149Gln) variant in USH2A was absent from gnomAD (PM2). It has been detected in one patient with Usher syndrome and one patient with isolated Retinitis pigmentosa, both of whom carried another suspected pathogenic variant in trans (PM3_Strong; PP4; PMIDs: 26872967, 29074561, 28041643; ClinVar ID: 2356). In summary, this variant meets criteria to be classified as likely pathogenic for autosomal recessive Usher syndrome based on the ACMG/AMP criteria applied as specified by the Hearing Loss Expert Panel: PM2, PM3_Strong, PP4. |
Centre for Genomic Medicine, |
RCV000210323 | SCV000259095 | likely pathogenic | Usher syndrome type 2A | 2015-08-28 | no assertion criteria provided | clinical testing | |
Centre for Genomic Medicine, |
RCV000225553 | SCV000282656 | uncertain significance | Retinal dystrophy | no assertion criteria provided | clinical testing | ||
NIHR Bioresource Rare Diseases, |
RCV000505157 | SCV000598820 | likely pathogenic | Retinitis pigmentosa | 2015-01-01 | no assertion criteria provided | research |