ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ and "uncertain significance" from Revvity Omics, Revvity

Minimum review status of the submission from Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+: Collection method of the submission from Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 4
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HGVS dbSNP gnomAD frequency
NM_000552.5(VWF):c.4751A>G (p.Tyr1584Cys) rs1800386 0.00237
NM_002693.3(POLG):c.1402A>G (p.Asn468Asp) rs145843073 0.00063
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys) rs121964857 0.00044
NM_001614.5(ACTG1):c.1003C>T (p.Arg335Cys) rs1568060200

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