NM_000138.5(FBN1):c.2921G>A (p.Arg974His) AND not specified
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 15, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001797974.1
Allele description [Variation Report for NM_000138.5(FBN1):c.2921G>A (p.Arg974His)]
NM_000138.5(FBN1):c.2921G>A (p.Arg974His)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
Assertion and evidence details
Last Updated: Dec 24, 2023