NM_003070.5(SMARCA2):c.3314G>A (p.Arg1105His) AND Blepharophimosis-impaired intellectual development syndrome
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jul 1, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003147603.1
Allele description [Variation Report for NM_003070.5(SMARCA2):c.3314G>A (p.Arg1105His)]
NM_003070.5(SMARCA2):c.3314G>A (p.Arg1105His)
Condition(s)
Assertion and evidence details
Last Updated: May 7, 2024