ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Institute of Human Genetics, University Hospital of Duesseldorf and "likely benign" from any submitter

Minimum review status of the submission from Institute of Human Genetics, University Hospital of Duesseldorf: Collection method of the submission from Institute of Human Genetics, University Hospital of Duesseldorf:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 10
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HGVS dbSNP gnomAD frequency
NM_152564.5(VPS13B):c.5606C>T (p.Thr1869Met) rs117148013 0.00078
NM_152564.5(VPS13B):c.6416A>G (p.Asn2139Ser) rs142248228 0.00070
NM_002386.4(MC1R):c.247T>C (p.Ser83Pro) rs34474212 0.00069
NM_000368.5(TSC1):c.2285A>G (p.Asn762Ser) rs118203670 0.00041
NM_005732.4(RAD50):c.2397G>C (p.Gln799His) rs61749630 0.00036
NM_001378969.1(KCND3):c.641A>G (p.Lys214Arg) rs142744204 0.00034
NM_002739.5(PRKCG):c.1730C>T (p.Ser577Leu) rs551805527 0.00006
NM_024675.4(PALB2):c.194C>T (p.Pro65Leu) rs62625272 0.00004
NM_001258392.3(CLPB):c.1795C>A (p.Arg599Ser)
NM_006618.5(KDM5B):c.712-4del rs558975598

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