NM_001999.4(FBN2):c.5496C>T (p.Arg1832=) AND not specified
- Germline classification:
- Conflicting interpretations of pathogenicity (7 submissions)
- Last evaluated:
- Nov 20, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000178522.32
Allele description [Variation Report for NM_001999.4(FBN2):c.5496C>T (p.Arg1832=)]
NM_001999.4(FBN2):c.5496C>T (p.Arg1832=)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
Assertion and evidence details
Last Updated: Mar 23, 2024