NM_000543.5(SMPD1):c.1135C>T (p.Leu379Phe) AND SMPD1-related disorder
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 30, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003392427.4
Allele description [Variation Report for NM_000543.5(SMPD1):c.1135C>T (p.Leu379Phe)]
NM_000543.5(SMPD1):c.1135C>T (p.Leu379Phe)
Condition(s)
- Name:
- SMPD1-related disorder
- Synonyms:
- SMPD1-related condition
- Identifiers:
Assertion and evidence details
Last Updated: May 19, 2024