NM_001352514.2(HLCS):c.493+2T>C AND Holocarboxylase synthetase deficiency
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Feb 14, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004576719.1
Allele description [Variation Report for NM_001352514.2(HLCS):c.493+2T>C]
NM_001352514.2(HLCS):c.493+2T>C
Condition(s)
Assertion and evidence details
Last Updated: Jun 17, 2024