NM_004183.4(BEST1):c.851A>G (p.Tyr284Cys) AND not provided
- Germline classification:
- Pathogenic/Likely pathogenic (3 submissions)
- Last evaluated:
- Jan 18, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000723944.23
Allele description [Variation Report for NM_004183.4(BEST1):c.851A>G (p.Tyr284Cys)]
NM_004183.4(BEST1):c.851A>G (p.Tyr284Cys)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
-
Neisseria meningitidis FAM18
Neisseria meningitidis FAM18Causes meningitis and septicemiaBioProject
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See more...Assertion and evidence details
Flagged submissions
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV000202249 | Eurofins Ntd Llc (ga) | flagged submission Reason: Outlier claim with insufficient supporting evidence Notes: None (EGL Classification Definitions 2015) | Uncertain significance (Apr 16, 2014) | germline | clinical testing |
Last Updated: Oct 13, 2024