The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
[Disclaimer]
- Gene obtained from curated document aligns with the Allele Registry but not with ClinVar data
- No CSPEC computed assertion could be determined for this classification!
Variant: NM_000232.5(SGCB):c.699_702del (p.Phe233fs)
- Curation Version - 1.0
- Curation History
- JSON LD for Version 1.0
CA16040953
370474 (ClinVar)
Gene: SGCB
Condition: autosomal recessive limb-girdle muscular dystrophy
Inheritance Mode: Autosomal recessive inheritance
UUID: be814538-bc09-4bef-99d5-429d40398430
Approved on: 2025-01-08
Published on: 2025-01-08
HGVS expressions
NM_000232.5:c.699_702del
NM_000232.5(SGCB):c.699_702del (p.Phe233fs)
NC_000004.12:g.52028022_52028025del
CM000666.2:g.52028022_52028025del
NC_000004.11:g.52894188_52894191del
CM000666.1:g.52894188_52894191del
NC_000004.10:g.52588945_52588948del
NG_008891.1:g.15298_15301del
ENST00000381431.10:c.699_702del
ENST00000381431.9:c.699_702del
NM_000232.4:c.699_702del
Evidence submitted by expert panel
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