Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001284154 | SCV001469780 | pathogenic | not provided | 2019-09-04 | criteria provided, single submitter | clinical testing | Found in at least one patient with expected phenotype for this gene. Predicted to have a tolerated effect on the protein. Assessment of experimental evidence suggests this variant results in abnormal protein function. Segregation with disease in affected and unaffected individuals from multiple families. |
OMIM | RCV000016428 | SCV000036696 | other | HEMOGLOBIN JOHNSTOWN | 2017-12-12 | no assertion criteria provided | literature only |