NM_017617.5(NOTCH1):c.6481C>T (p.Pro2161Ser) AND Aortic valve disease 1
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Mar 15, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001335846.2
Allele description [Variation Report for NM_017617.5(NOTCH1):c.6481C>T (p.Pro2161Ser)]
NM_017617.5(NOTCH1):c.6481C>T (p.Pro2161Ser)
Condition(s)
Assertion and evidence details
Last Updated: Feb 28, 2024