NM_000543.5(SMPD1):c.1427G>A (p.Arg476Gln) AND not specified
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 7, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003114556.10
Allele description [Variation Report for NM_000543.5(SMPD1):c.1427G>A (p.Arg476Gln)]
NM_000543.5(SMPD1):c.1427G>A (p.Arg476Gln)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
Assertion and evidence details
Last Updated: Nov 30, 2024