NM_000543.5(SMPD1):c.1263+1G>A AND Niemann-Pick disease, type A
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jan 24, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003475269.2
Allele description [Variation Report for NM_000543.5(SMPD1):c.1263+1G>A]
NM_000543.5(SMPD1):c.1263+1G>A
Condition(s)
Assertion and evidence details
Last Updated: Jun 17, 2024