NM_001101362.3(KBTBD13):c.1025A>G (p.Tyr342Cys) AND Nemaline myopathy 6
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 18, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003083790.2
Allele description [Variation Report for NM_001101362.3(KBTBD13):c.1025A>G (p.Tyr342Cys)]
NM_001101362.3(KBTBD13):c.1025A>G (p.Tyr342Cys)
Condition(s)
Assertion and evidence details
Last Updated: May 1, 2024