ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Genome-Nilou Lab and "pathogenic" from HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology

Minimum review status of the submission from Genome-Nilou Lab: Collection method of the submission from Genome-Nilou Lab:
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_003060.4(SLC22A5):c.1463G>A (p.Arg488His) rs28383481 0.00347

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