NM_001330078.2(NRXN1):c.543G>A (p.Lys181=) AND Pitt-Hopkins-like syndrome 2
- Germline classification:
- Conflicting interpretations of pathogenicity (2 submissions)
- Last evaluated:
- Dec 31, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001139145.6
Allele description [Variation Report for NM_001330078.2(NRXN1):c.543G>A (p.Lys181=)]
NM_001330078.2(NRXN1):c.543G>A (p.Lys181=)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024