NM_001194998.2(CEP152):c.3212del (p.Leu1071fs) AND not provided
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Sep 11, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001562529.3
Allele description [Variation Report for NM_001194998.2(CEP152):c.3212del (p.Leu1071fs)]
NM_001194998.2(CEP152):c.3212del (p.Leu1071fs)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
Assertion and evidence details
Last Updated: May 12, 2024