NM_000059.4(BRCA2):c.8350C>T (p.Arg2784Trp) AND not provided
- Germline classification:
- Pathogenic/Likely pathogenic (5 submissions)
- Last evaluated:
- May 3, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000392114.30
Allele description [Variation Report for NM_000059.4(BRCA2):c.8350C>T (p.Arg2784Trp)]
NM_000059.4(BRCA2):c.8350C>T (p.Arg2784Trp)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
-
CRK [Numida meleagris]
CRK [Numida meleagris]Gene ID:110407619Gene
-
Homo sapiens nuclear receptor subfamily 4 group A member 3 (NR4A3), transcript v...
Homo sapiens nuclear receptor subfamily 4 group A member 3 (NR4A3), transcript variant 1, mRNAgi|1519243370|ref|NM_006981.4|Nucleotide
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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 |
---|---|---|---|---|---|---|
SCV002010309 | Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden | flagged submission Reason: Outlier claim with insufficient supporting evidence Notes: None (ACMG Guidelines, 2015) | Uncertain significance (Nov 3, 2021) | germline | clinical testing |
Last Updated: Oct 8, 2024