NM_000535.7(PMS2):c.1012C>G (p.Pro338Ala) AND Lynch syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 31, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003998566.2
Allele description [Variation Report for NM_000535.7(PMS2):c.1012C>G (p.Pro338Ala)]
NM_000535.7(PMS2):c.1012C>G (p.Pro338Ala)
Condition(s)
- Name:
- Lynch syndrome
- Identifiers:
- MONDO: MONDO:0005835; MedGen: C4552100
Assertion and evidence details
Last Updated: Aug 11, 2024