NM_001370658.1(BTD):c.1143C>T (p.Asp381=) AND Biotinidase deficiency
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Mar 23, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002160529.14
Allele description [Variation Report for NM_001370658.1(BTD):c.1143C>T (p.Asp381=)]
NM_001370658.1(BTD):c.1143C>T (p.Asp381=)
Condition(s)
Assertion and evidence details
Last Updated: Oct 13, 2024