NM_000138.5(FBN1):c.7661G>A (p.Arg2554Gln) AND Geleophysic dysplasia
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Apr 28, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000297567.5
Allele description [Variation Report for NM_000138.5(FBN1):c.7661G>A (p.Arg2554Gln)]
NM_000138.5(FBN1):c.7661G>A (p.Arg2554Gln)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024