NM_001330078.2(NRXN1):c.322C>T (p.Pro108Ser) AND Pitt-Hopkins-like syndrome 2
- Germline classification:
- Conflicting interpretations of pathogenicity (2 submissions)
- Last evaluated:
- Feb 1, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001082855.21
Allele description [Variation Report for NM_001330078.2(NRXN1):c.322C>T (p.Pro108Ser)]
NM_001330078.2(NRXN1):c.322C>T (p.Pro108Ser)
Condition(s)
Assertion and evidence details
Last Updated: May 26, 2024