NM_001308330.2(STXBP5L):c.2713T>C (p.Trp905Arg) AND not specified
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 30, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004305414.1
Allele description [Variation Report for NM_001308330.2(STXBP5L):c.2713T>C (p.Trp905Arg)]
NM_001308330.2(STXBP5L):c.2713T>C (p.Trp905Arg)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
Assertion and evidence details
Last Updated: Jun 9, 2024