NM_003073.5(SMARCB1):c.1085AGA[2] (p.Lys364del) AND Intellectual disability, autosomal dominant 15
- Germline classification:
- Pathogenic (6 submissions)
- Last evaluated:
- Sep 2, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000023121.24
Allele description [Variation Report for NM_003073.5(SMARCB1):c.1085AGA[2] (p.Lys364del)]
NM_003073.5(SMARCB1):c.1085AGA[2] (p.Lys364del)
Condition(s)
Assertion and evidence details
Last Updated: Aug 18, 2024