NM_000520.6(HEXA):c.517C>T (p.Leu173=) AND Inborn genetic diseases
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Aug 29, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002336796.9
Allele description [Variation Report for NM_000520.6(HEXA):c.517C>T (p.Leu173=)]
NM_000520.6(HEXA):c.517C>T (p.Leu173=)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
Assertion and evidence details
Last Updated: Jun 2, 2024