NM_000535.7(PMS2):c.2T>A (p.Met1Lys) AND PMS2-related disorder
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Feb 10, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003407599.4
Allele description [Variation Report for NM_000535.7(PMS2):c.2T>A (p.Met1Lys)]
NM_000535.7(PMS2):c.2T>A (p.Met1Lys)
Condition(s)
- Name:
- PMS2-related disorder
- Synonyms:
- PMS2-related condition
- Identifiers:
Assertion and evidence details
Last Updated: Sep 16, 2024