ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Department of Vascular Biology, Beijing Anzhen Hospital and "pathogenic" from Eurofins Ntd Llc (ga)

Minimum review status of the submission from Department of Vascular Biology, Beijing Anzhen Hospital: Collection method of the submission from Department of Vascular Biology, Beijing Anzhen Hospital:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 1
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HGVS dbSNP gnomAD frequency
NM_000138.5(FBN1):c.8326C>T (p.Arg2776Ter) rs137854466 0.00001

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