NM_000543.5(SMPD1):c.1550A>T (p.Glu517Val) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 31, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001081864.15
Allele description [Variation Report for NM_000543.5(SMPD1):c.1550A>T (p.Glu517Val)]
NM_000543.5(SMPD1):c.1550A>T (p.Glu517Val)
Condition(s)
Assertion and evidence details
Last Updated: Jun 23, 2024