NM_005198.5(CHKB):c.224+5G>C AND Megaconial type congenital muscular dystrophy
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Aug 28, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001245358.8
Allele description [Variation Report for NM_005198.5(CHKB):c.224+5G>C]
NM_005198.5(CHKB):c.224+5G>C
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024