NM_001352514.2(HLCS):c.1902_1903del (p.Phe634fs) AND Holocarboxylase synthetase deficiency
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Apr 4, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002306834.2
Allele description [Variation Report for NM_001352514.2(HLCS):c.1902_1903del (p.Phe634fs)]
NM_001352514.2(HLCS):c.1902_1903del (p.Phe634fs)
Condition(s)
Assertion and evidence details
Last Updated: Dec 24, 2022