NM_014276.4(RBPJL):c.13G>A (p.Gly5Arg) AND not specified
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 24, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004321072.1
Allele description [Variation Report for NM_014276.4(RBPJL):c.13G>A (p.Gly5Arg)]
NM_014276.4(RBPJL):c.13G>A (p.Gly5Arg)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
Assertion and evidence details
Last Updated: Oct 26, 2024