NM_052989.3(IFT122):c.1150C>T (p.Arg384Trp) AND Cranioectodermal dysplasia 1
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Jul 19, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000371676.7
Allele description [Variation Report for NM_052989.3(IFT122):c.1150C>T (p.Arg384Trp)]
NM_052989.3(IFT122):c.1150C>T (p.Arg384Trp)
Condition(s)
Assertion and evidence details
Last Updated: Dec 24, 2023