NM_001101362.3(KBTBD13):c.751A>G (p.Thr251Ala) AND Nemaline myopathy 6
- Germline classification:
- Benign/Likely benign (2 submissions)
- Last evaluated:
- Aug 4, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000291407.12
Allele description [Variation Report for NM_001101362.3(KBTBD13):c.751A>G (p.Thr251Ala)]
NM_001101362.3(KBTBD13):c.751A>G (p.Thr251Ala)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024