NM_000543.5(SMPD1):c.669_670del (p.Ala224fs) AND multiple conditions
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Dec 23, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003807785.1
Allele description [Variation Report for NM_000543.5(SMPD1):c.669_670del (p.Ala224fs)]
NM_000543.5(SMPD1):c.669_670del (p.Ala224fs)
Condition(s)
Assertion and evidence details
Last Updated: Mar 5, 2024