NM_018061.4(PRPF38B):c.1636G>C (p.Val546Leu) AND not specified
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 31, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004301976.1
Allele description [Variation Report for NM_018061.4(PRPF38B):c.1636G>C (p.Val546Leu)]
NM_018061.4(PRPF38B):c.1636G>C (p.Val546Leu)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
Assertion and evidence details
Last Updated: Jun 9, 2024