NM_147127.5(EVC2):c.3057+1del AND multiple conditions
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Feb 15, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001944964.7
Allele description [Variation Report for NM_147127.5(EVC2):c.3057+1del]
NM_147127.5(EVC2):c.3057+1del
Condition(s)
Assertion and evidence details
Last Updated: Jan 13, 2025