ClinVar Miner

Variants with conflicting interpretations "benign" from Blueprint Genetics and "uncertain significance" from any submitter

Minimum review status of the submission from Blueprint Genetics: Collection method of the submission from Blueprint Genetics:
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_001134363.3(RBM20):c.2662G>A (p.Asp888Asn) rs201370621 0.00344
NM_033337.3(CAV3):c.233C>T (p.Thr78Met) rs72546668 0.00317
NM_003476.5(CSRP3):c.299G>A (p.Arg100His) rs138218523 0.00097
NM_002474.3(MYH11):c.1871G>A (p.Arg624His) rs201991156 0.00068

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