ClinVar Miner

Variants with conflicting interpretations "likely benign" from Genome Diagnostics Laboratory, The Hospital for Sick Children and "uncertain significance" from any submitter

Minimum review status of the submission from Genome Diagnostics Laboratory, The Hospital for Sick Children: Collection method of the submission from Genome Diagnostics Laboratory, The Hospital for Sick Children:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 12
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HGVS dbSNP gnomAD frequency
NM_000492.4(CFTR):c.2898G>A (p.Thr966=) rs1800109 0.00907
NM_025137.4(SPG11):c.3818A>G (p.Lys1273Arg) rs76389165 0.00694
NM_000492.4(CFTR):c.4272C>T (p.Tyr1424=) rs1800135 0.00660
NM_000492.4(CFTR):c.3285A>T (p.Thr1095=) rs1800118 0.00570
NM_006612.6(KIF1C):c.1111G>A (p.Ala371Thr) rs142056835 0.00379
NM_014363.6(SACS):c.13717A>C (p.Asn4573His) rs34382952 0.00326
NM_001042492.3(NF1):c.1994C>T (p.Ser665Phe) rs145891889 0.00220
NM_006612.6(KIF1C):c.2299G>A (p.Gly767Arg) rs118037269 0.00157
NM_001042492.3(NF1):c.7584A>G (p.Gln2528=) rs55865524 0.00127
NM_001042492.3(NF1):c.731-6A>C rs369366499 0.00037
NM_001042492.3(NF1):c.8041A>G (p.Ile2681Val) rs146315101 0.00031
NM_001042492.3(NF1):c.5049C>T (p.Asn1683=) rs140994965 0.00012

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