NM_000543.5(SMPD1):c.362T>C (p.Leu121Pro) AND Niemann-Pick disease, type A
- Germline classification:
- Conflicting interpretations of pathogenicity (2 submissions)
- Last evaluated:
- Apr 25, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000671945.3
Allele description [Variation Report for NM_000543.5(SMPD1):c.362T>C (p.Leu121Pro)]
NM_000543.5(SMPD1):c.362T>C (p.Leu121Pro)
Condition(s)
Assertion and evidence details
Last Updated: Feb 4, 2024