Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ocular Genomics Institute, |
RCV001374886 | SCV001572168 | uncertain significance | Usher syndrome type 1D | 2021-04-08 | criteria provided, single submitter | research | The CDH23 c.7393C>T variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PM2, PM1. Based on this evidence we have classified this variant as Variant of Uncertain Significance. |
Genome- |
RCV001559226 | SCV001781350 | uncertain significance | Autosomal recessive nonsyndromic hearing loss 12 | 2021-07-14 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001374886 | SCV001781351 | uncertain significance | Usher syndrome type 1D | 2021-07-14 | criteria provided, single submitter | clinical testing |