NM_002226.5(JAG2):c.1478G>A (p.Arg493Gln) AND not specified
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 4, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004133279.1
Allele description [Variation Report for NM_002226.5(JAG2):c.1478G>A (p.Arg493Gln)]
NM_002226.5(JAG2):c.1478G>A (p.Arg493Gln)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
Assertion and evidence details
Last Updated: Jun 9, 2024