NM_001365597.4(PRPF40A):c.1418C>T (p.Ser473Leu) AND not specified
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 3, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004204478.1
Allele description [Variation Report for NM_001365597.4(PRPF40A):c.1418C>T (p.Ser473Leu)]
NM_001365597.4(PRPF40A):c.1418C>T (p.Ser473Leu)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
Assertion and evidence details
Last Updated: Jun 9, 2024