ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Eurofins NTD LLC (GA) and "likely pathogenic" from Department of Vascular Biology, Beijing Anzhen Hospital

Minimum review status of the submission from Eurofins NTD LLC (GA): Collection method of the submission from Eurofins NTD LLC (GA):
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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