NM_001370658.1(BTD):c.249+1G>A AND Biotinidase deficiency
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jul 3, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001195863.3
Allele description [Variation Report for NM_001370658.1(BTD):c.249+1G>A]
NM_001370658.1(BTD):c.249+1G>A
Condition(s)
Assertion and evidence details
Last Updated: Jun 10, 2023