NM_000264.5(PTCH1):c.3355C>G (p.Leu1119Val) AND Hereditary cancer-predisposing syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 15, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002321009.2
Allele description [Variation Report for NM_000264.5(PTCH1):c.3355C>G (p.Leu1119Val)]
NM_000264.5(PTCH1):c.3355C>G (p.Leu1119Val)
Condition(s)
- Name:
- Hereditary cancer-predisposing syndrome
- Synonyms:
- Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672
Assertion and evidence details
Last Updated: May 1, 2024