NM_153717.3(EVC):c.2236C>T (p.Gln746Ter) AND multiple conditions
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Apr 9, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000637036.5
Allele description [Variation Report for NM_153717.3(EVC):c.2236C>T (p.Gln746Ter)]
NM_153717.3(EVC):c.2236C>T (p.Gln746Ter)
Condition(s)
Assertion and evidence details
Last Updated: Mar 5, 2024