NM_001352514.2(HLCS):c.989G>C (p.Arg330Pro) AND Holocarboxylase synthetase deficiency
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 22, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001067305.8
Allele description [Variation Report for NM_001352514.2(HLCS):c.989G>C (p.Arg330Pro)]
NM_001352514.2(HLCS):c.989G>C (p.Arg330Pro)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024