NM_000535.7(PMS2):c.2T>A (p.Met1Lys) AND Lynch syndrome
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Oct 14, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004017444.1
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:
- Lynch syndrome
- Identifiers:
- MONDO: MONDO:0005835; MedGen: C4552100
Assertion and evidence details
Last Updated: Aug 11, 2024