NM_000079.4(CHRNA1):c.1182T>A (p.Ser394Arg) AND Lethal multiple pterygium syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 2, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001944109.5
Assertion and evidence details
Last Updated: Mar 16, 2024