NM_147127.5(EVC2):c.655G>T (p.Gly219Ter) AND multiple conditions
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Nov 23, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001895069.5
Allele description [Variation Report for NM_147127.5(EVC2):c.655G>T (p.Gly219Ter)]
NM_147127.5(EVC2):c.655G>T (p.Gly219Ter)
Condition(s)
Assertion and evidence details
Last Updated: Jan 13, 2025