NM_005198.5(CHKB):c.220G>A (p.Val74Met) AND Megaconial type congenital muscular dystrophy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 11, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001235805.7
Allele description
NM_005198.5(CHKB):c.220G>A (p.Val74Met)
Condition(s)
Assertion and evidence details
Last Updated: Feb 20, 2024