Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Myriad Genetics, |
RCV002310397 | SCV002602382 | likely pathogenic | Biotinidase deficiency | 2021-12-30 | criteria provided, single submitter | clinical testing | NM_000060.2(BTD):c.280G>T(E94*) is expected to be pathogenic in the context of biotinidase deficiency. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in BTD, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening. |