NM_003738.5(PTCH2):c.565C>G (p.Leu189Val) AND Gorlin syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 30, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000628394.5
Allele description [Variation Report for NM_003738.5(PTCH2):c.565C>G (p.Leu189Val)]
NM_003738.5(PTCH2):c.565C>G (p.Leu189Val)
Condition(s)
- Name:
- Gorlin syndrome
- Synonyms:
- Gorlin-Goltz Syndrome; Multiple Basal Cell Nevi, Odontogenic Keratocysts, And Skeletal Anomalies; Fifth Phacomatosis; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007187; MedGen: C0004779; Orphanet: 377; OMIM: PS109400
Assertion and evidence details
Last Updated: Feb 20, 2024