NM_001330078.2(NRXN1):c.-59_772+1193del AND Pitt-Hopkins-like syndrome 2
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jan 22, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001253604.1
Allele description [Variation Report for NM_001330078.2(NRXN1):c.-59_772+1193del]
NM_001330078.2(NRXN1):c.-59_772+1193del
Condition(s)
Assertion and evidence details
Last Updated: Sep 3, 2023