NM_001003694.2(BRPF1):c.898G>A (p.Val300Met) AND Intellectual developmental disorder with dysmorphic facies and ptosis
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jan 18, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002272688.2
Allele description [Variation Report for NM_001003694.2(BRPF1):c.898G>A (p.Val300Met)]
NM_001003694.2(BRPF1):c.898G>A (p.Val300Met)
Condition(s)
Assertion and evidence details
Last Updated: Dec 24, 2023