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 computer assertion could be determined for this classification!
Variant: NM_000419.5:c.2898_2902dup
CA915940725
1210173 (ClinVar)
Gene: ITGA2B
Condition: Glanzmann thrombasthenia
Inheritance Mode: Autosomal recessive inheritance
UUID: e4b07930-d42f-47df-990a-6f83818fe71f
Approved on: 2024-08-20
Published on: 2024-08-20
HGVS expressions
NM_000419.5:c.2898_2902dup
NC_000017.11:g.44374704_44374708dup
CM000679.2:g.44374704_44374708dup
NC_000017.10:g.42452072_42452076dup
CM000679.1:g.42452072_42452076dup
NC_000017.9:g.39807598_39807602dup
NG_008331.1:g.19802_19806dup
ENST00000262407.6:c.2898_2902dup
ENST00000648408.1:c.2329_2333dup
ENST00000262407.5:c.2898_2902dup
ENST00000587295.5:c.253+1129_253+1133dup
ENST00000592462.5:n.2409_2413dup
NM_000419.3:c.2898_2902dup
NM_000419.4:c.2898_2902dup
Evidence submitted by expert panel
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