NM_022356.4(P3H1):c.1_13del (p.Met1fs) AND Osteogenesis imperfecta type 8
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Mar 22, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002052197.1
Allele description [Variation Report for NM_022356.4(P3H1):c.1_13del (p.Met1fs)]
NM_022356.4(P3H1):c.1_13del (p.Met1fs)
Condition(s)
Assertion and evidence details
Last Updated: Sep 1, 2024