NM_001042492.3(NF1):c.2342A>C (p.His781Pro) AND Hereditary cancer-predisposing syndrome
- Germline classification:
- no classifications from unflagged records (1 submission)
- Last evaluated:
- Jun 3, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000218636.2
Allele description [Variation Report for NM_001042492.3(NF1):c.2342A>C (p.His781Pro)]
NM_001042492.3(NF1):c.2342A>C (p.His781Pro)
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
Flagged submissions
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV000277163 | Ambry Genetics | flagged submission Reason: Older and outlier claim with insufficient supporting evidence Notes: None (Ambry Autosomal Dominant and X-Linked criteria (10/2015)) | Uncertain significance (Jul 14, 2015) | germline | clinical testing |
Last Updated: Sep 29, 2024