NM_000552.5(VWF):c.5278G>A (p.Val1760Ile) AND Abnormality of coagulation
- Germline classification:
- no classifications from unflagged records (1 submission)
- Last evaluated:
- Dec 7, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000852150.3
Allele description [Variation Report for NM_000552.5(VWF):c.5278G>A (p.Val1760Ile)]
NM_000552.5(VWF):c.5278G>A (p.Val1760Ile)
Condition(s)
- Name:
- Abnormality of coagulation
- Identifiers:
- MedGen: C1846821; Human Phenotype Ontology: HP:0001928
Assertion and evidence details
Flagged submissions
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV000899790 | NIHR Bioresource Rare Diseases, University of Cambridge - ThromboGenomics | flagged submission Reason: Outlier claim with insufficient supporting evidence Notes: None (ACMG Guidelines, 2015) | Likely pathogenic (Feb 1, 2019) | unknown | research |
Last Updated: Apr 20, 2024