NM_001352027.3(PHF21A):c.1958del (p.Pro653fs) AND Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Aug 14, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003387572.1
Allele description [Variation Report for NM_001352027.3(PHF21A):c.1958del (p.Pro653fs)]
NM_001352027.3(PHF21A):c.1958del (p.Pro653fs)
Condition(s)
Assertion and evidence details
Last Updated: Jul 23, 2024