NM_000543.5(SMPD1):c.1458T>G (p.Ser486Arg) AND multiple conditions
- Germline classification:
- Pathogenic/Likely pathogenic (2 submissions)
- Last evaluated:
- Dec 21, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000819539.7
Allele description [Variation Report for NM_000543.5(SMPD1):c.1458T>G (p.Ser486Arg)]
NM_000543.5(SMPD1):c.1458T>G (p.Ser486Arg)
Condition(s)
Assertion and evidence details
Last Updated: Jun 17, 2024