NM_000543.5(SMPD1):c.144T>G (p.Ala48=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 4, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002609527.2
Allele description [Variation Report for NM_000543.5(SMPD1):c.144T>G (p.Ala48=)]
NM_000543.5(SMPD1):c.144T>G (p.Ala48=)
Condition(s)
Assertion and evidence details
Last Updated: Mar 5, 2024