ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Revvity Omics, Revvity and "likely pathogenic" from Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris

Minimum review status of the submission from Revvity Omics, Revvity: Collection method of the submission from Revvity Omics, Revvity:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 2
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HGVS dbSNP gnomAD frequency
NM_001128126.3(AP4S1):c.289C>T (p.Arg97Ter) rs200440467 0.00009
NM_172107.4(KCNQ2):c.1004C>T (p.Pro335Leu) rs796052641

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