NM_001271208.1(NEB):c.7291G>A AND Arthrogryposis multiplex congenita 6
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Apr 5, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003475836.1
Allele description [Variation Report for NM_001271208.1(NEB):c.7291G>A]
NM_001164508.2(NEB):c.7291G>A (p.Glu2431Lys)
Condition(s)
Assertion and evidence details
Last Updated: Oct 26, 2024