Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000411121 | SCV000486812 | likely pathogenic | Biotinidase deficiency | 2016-08-12 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000411121 | SCV004211440 | uncertain significance | Biotinidase deficiency | 2025-01-18 | criteria provided, single submitter | clinical testing | This variant, also known as NM_000060.4(BTD):c.43A>T (p.R15*), is located within the coding region of a minor isoform but is not within the coding region of the MANE isoform NM_001370658.1. The functional consequence is uncertain. |