NM_001330691.3(CEP78):c.1206-2A>C AND not provided
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jan 1, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001038129.6
Allele description [Variation Report for NM_001330691.3(CEP78):c.1206-2A>C]
NM_001330691.3(CEP78):c.1206-2A>C
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: CN517202
Assertion and evidence details
Last Updated: Aug 5, 2023