NM_000138.5(FBN1):c.4095C>T (p.Asp1365=) AND not provided
- Germline classification:
- Conflicting interpretations of pathogenicity (2 submissions)
- Last evaluated:
- Feb 12, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000513577.32
Allele description [Variation Report for NM_000138.5(FBN1):c.4095C>T (p.Asp1365=)]
NM_000138.5(FBN1):c.4095C>T (p.Asp1365=)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
Assertion and evidence details
Last Updated: Nov 24, 2024