NM_001079866.2(BCS1L):c.548G>A (p.Arg183His) AND not provided
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Nov 18, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002512833.4
Allele description [Variation Report for NM_001079866.2(BCS1L):c.548G>A (p.Arg183His)]
NM_001079866.2(BCS1L):c.548G>A (p.Arg183His)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
Assertion and evidence details
Last Updated: Sep 29, 2024