NM_005585.5(SMAD6):c.1034del (p.Arg345fs) AND CRANIOSYNOSTOSIS 7, SUSCEPTIBILITY TO
- Germline classification:
- risk factor (1 submission)
- Last evaluated:
- Apr 19, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000477938.1
Allele description [Variation Report for NM_005585.5(SMAD6):c.1034del (p.Arg345fs)]
NM_005585.5(SMAD6):c.1034del (p.Arg345fs)
Condition(s)
- Name:
- CRANIOSYNOSTOSIS 7, SUSCEPTIBILITY TO
- Identifiers:
- MedGen: C4479677
Assertion and evidence details
Last Updated: Apr 23, 2022