Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000724481 | SCV000227920 | uncertain significance | not provided | 2015-08-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000724481 | SCV000619253 | uncertain significance | not provided | 2020-10-13 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Labcorp Genetics |
RCV000724481 | SCV001217046 | likely benign | not provided | 2024-01-15 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV005008102 | SCV005630215 | uncertain significance | Bone mineral density quantitative trait locus 1; Exudative vitreoretinopathy 4; Worth disease; Autosomal dominant osteopetrosis 1; Osteoporosis with pseudoglioma; Polycystic liver disease 4 with or without kidney cysts | 2024-03-13 | criteria provided, single submitter | clinical testing |