NM_000535.7(PMS2):c.1501G>A (p.Val501Met) AND PMS2-related disorder
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 25, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004742254.1
Allele description [Variation Report for NM_000535.7(PMS2):c.1501G>A (p.Val501Met)]
NM_000535.7(PMS2):c.1501G>A (p.Val501Met)
Condition(s)
- Name:
- PMS2-related disorder
- Synonyms:
- PMS2-related condition
- Identifiers:
Assertion and evidence details
Last Updated: Jan 19, 2025