Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001577123 | SCV001804454 | uncertain significance | not provided | 2021-04-01 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Fulgent Genetics, |
RCV002493488 | SCV002779991 | uncertain significance | Autosomal recessive nonsyndromic hearing loss 12; Usher syndrome type 1D; Pituitary adenoma 5, multiple types | 2021-07-22 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001577123 | SCV003522559 | likely benign | not provided | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001279072 | SCV001466133 | uncertain significance | Usher syndrome type 1 | 2020-04-17 | no assertion criteria provided | clinical testing |