NM_000543.5(SMPD1):c.295_296del (p.Thr99fs) AND multiple conditions
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jan 2, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002310495.2
Allele description [Variation Report for NM_000543.5(SMPD1):c.295_296del (p.Thr99fs)]
NM_000543.5(SMPD1):c.295_296del (p.Thr99fs)
Condition(s)
Assertion and evidence details
Last Updated: Jul 29, 2023