NM_006486.3(FBLN1):c.2096C>T (p.Ser699Phe) AND not specified
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 13, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004323972.1
Allele description [Variation Report for NM_006486.3(FBLN1):c.2096C>T (p.Ser699Phe)]
NM_006486.3(FBLN1):c.2096C>T (p.Ser699Phe)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
Assertion and evidence details
Last Updated: Jun 9, 2024