NM_147127.5(EVC2):c.2856_2857del (p.Arg952fs) AND multiple conditions
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Dec 18, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003099161.3
Allele description [Variation Report for NM_147127.5(EVC2):c.2856_2857del (p.Arg952fs)]
NM_147127.5(EVC2):c.2856_2857del (p.Arg952fs)
Condition(s)
Assertion and evidence details
Last Updated: Jan 13, 2025