NM_017617.5(NOTCH1):c.6061G>A (p.Val2021Ile) AND NOTCH1-related disorder
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 23, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004538105.1
Allele description [Variation Report for NM_017617.5(NOTCH1):c.6061G>A (p.Val2021Ile)]
NM_017617.5(NOTCH1):c.6061G>A (p.Val2021Ile)
Condition(s)
- Name:
- NOTCH1-related disorder
- Synonyms:
- NOTCH1-Related Disorders; NOTCH1-related condition
- Identifiers:
Assertion and evidence details
Last Updated: Jul 15, 2024