NM_001101362.3(KBTBD13):c.1048C>T (p.Arg350Cys) AND Nemaline myopathy 6
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 12, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002623940.2
Assertion and evidence details
Last Updated: Feb 14, 2024