NM_017617.5(NOTCH1):c.5690C>T (p.Thr1897Met) AND Adams-Oliver syndrome 5
- Germline classification:
- Conflicting interpretations of pathogenicity (2 submissions)
- Last evaluated:
- Sep 23, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000687731.16
Allele description [Variation Report for NM_017617.5(NOTCH1):c.5690C>T (p.Thr1897Met)]
NM_017617.5(NOTCH1):c.5690C>T (p.Thr1897Met)
Condition(s)
Assertion and evidence details
Last Updated: Apr 15, 2024