Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000086306 | SCV001985143 | uncertain significance | not provided | 2021-03-18 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Observed with the S403X pathogenic variant on the same allele and with a different pathogenic variant on the opposite allele in a patient with a CRB1-related retinal dystrophy in published literature (den Hollander et al., 2001); This variant is associated with the following publications: (PMID: 11389483, 12843338, 16123401) |
Retina International | RCV000086306 | SCV000118452 | not provided | not provided | no assertion provided | not provided |