NM_198488.5(FAM83H):c.930_939dup (p.Val314fs) AND Amelogenesis imperfecta, hypocalcification type
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Mar 1, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003154832.2
Allele description [Variation Report for NM_198488.5(FAM83H):c.930_939dup (p.Val314fs)]
NM_198488.5(FAM83H):c.930_939dup (p.Val314fs)
Condition(s)
Assertion and evidence details
Last Updated: Jun 23, 2024