NM_000214.3(JAG1):c.596del (p.Phe199fs) AND JAG1-related disorder
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Sep 9, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004554155.1
Allele description [Variation Report for NM_000214.3(JAG1):c.596del (p.Phe199fs)]
NM_000214.3(JAG1):c.596del (p.Phe199fs)
Condition(s)
- Name:
- JAG1-related disorder
- Synonyms:
- JAG1-related disorders; JAG1-related condition
- Identifiers:
Assertion and evidence details
Last Updated: Oct 26, 2024