NM_000543.5(SMPD1):c.1592C>G (p.Ala531Gly) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 19, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001968891.6
Allele description [Variation Report for NM_000543.5(SMPD1):c.1592C>G (p.Ala531Gly)]
NM_000543.5(SMPD1):c.1592C>G (p.Ala531Gly)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024