NM_001130145.3(YAP1):c.1196_1199del (p.Asp399fs) AND Uveal coloboma-cleft lip and palate-intellectual disability
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jan 1, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001262413.1
Allele description [Variation Report for NM_001130145.3(YAP1):c.1196_1199del (p.Asp399fs)]
NM_001130145.3(YAP1):c.1196_1199del (p.Asp399fs)
Condition(s)
Assertion and evidence details
Last Updated: Aug 5, 2023