NM_003465.3(CHIT1):c.1161T>C (p.Leu387=) AND Chitotriosidase deficiency
- Germline classification:
- Conflicting interpretations of pathogenicity (2 submissions)
- Last evaluated:
- Oct 19, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000269152.11
Allele description [Variation Report for NM_003465.3(CHIT1):c.1161T>C (p.Leu387=)]
NM_003465.3(CHIT1):c.1161T>C (p.Leu387=)
Condition(s)
Assertion and evidence details
Last Updated: Feb 28, 2024