NM_001003800.2(BICD2):c.1543G>A (p.Glu515Lys) AND Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jan 1, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002086755.1
Allele description [Variation Report for NM_001003800.2(BICD2):c.1543G>A (p.Glu515Lys)]
NM_001003800.2(BICD2):c.1543G>A (p.Glu515Lys)
Condition(s)
Assertion and evidence details
Last Updated: Dec 24, 2023