Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV003328916 | SCV004035549 | uncertain significance | not provided | 2023-09-07 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); 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; Different missense variant at same codon p.(E462G) reported in a patient with cataracts and shown to co-segregate with autosomal dominant cataracts in multi-generational family (Berry et al., 2013) |
Fulgent Genetics, |
RCV005036745 | SCV005660242 | uncertain significance | Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome | 2024-02-09 | criteria provided, single submitter | clinical testing |