NM_001370658.1(BTD):c.1130_1155dup (p.Val386delinsArgTer) AND Biotinidase deficiency
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Aug 1, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003053974.3
Allele description [Variation Report for NM_001370658.1(BTD):c.1130_1155dup (p.Val386delinsArgTer)]
NM_001370658.1(BTD):c.1130_1155dup (p.Val386delinsArgTer)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024