NM_001352514.2(HLCS):c.1920G>A (p.Met640Ile) AND Holocarboxylase synthetase deficiency
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 10, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002039362.6
Allele description [Variation Report for NM_001352514.2(HLCS):c.1920G>A (p.Met640Ile)]
NM_001352514.2(HLCS):c.1920G>A (p.Met640Ile)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024