NM_147127.5(EVC2):c.816+1G>T AND multiple conditions
- Germline classification:
- Pathogenic/Likely pathogenic (2 submissions)
- Last evaluated:
- Mar 18, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002019716.8
Allele description [Variation Report for NM_147127.5(EVC2):c.816+1G>T]
NM_147127.5(EVC2):c.816+1G>T
Condition(s)
Assertion and evidence details
Last Updated: Feb 1, 2025