NM_001352514.2(HLCS):c.1438G>T (p.Val480Leu) AND Holocarboxylase synthetase deficiency
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 23, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003058531.2
Allele description [Variation Report for NM_001352514.2(HLCS):c.1438G>T (p.Val480Leu)]
NM_001352514.2(HLCS):c.1438G>T (p.Val480Leu)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024