NM_001378030.1(CCDC78):c.1112del (p.Gln371fs) AND Congenital myopathy with internal nuclei and atypical cores
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 26, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001039806.5
Allele description [Variation Report for NM_001378030.1(CCDC78):c.1112del (p.Gln371fs)]
NM_001378030.1(CCDC78):c.1112del (p.Gln371fs)
Condition(s)
Assertion and evidence details
Last Updated: Feb 14, 2024