ClinVar Miner

Variants with conflicting interpretations "likely benign" from Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals and "uncertain significance" from any submitter

Minimum review status of the submission from Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals: Collection method of the submission from Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 13
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HGVS dbSNP gnomAD frequency
NM_000243.3(MEFV):c.2118G>A (p.Pro706=) rs2234939 0.00864
NM_000518.5(HBB):c.93-23T>C rs111851677 0.00593
NM_000243.3(MEFV):c.42G>A (p.Glu14=) rs113314808 0.00369
NM_001065.4(TNFRSF1A):c.1110C>T (p.Arg370=) rs201683984 0.00236
NM_000371.4(TTR):c.417G>A (p.Thr139=) rs2276382 0.00104
NM_000492.4(CFTR):c.3897A>G (p.Thr1299=) rs1800131 0.00101
NM_001065.4(TNFRSF1A):c.645C>T (p.Pro215=) rs147075345 0.00020
NM_000335.5(SCN5A):c.5364C>T (p.Asp1788=) rs375752426 0.00011
NM_000243.3(MEFV):c.1758T>C (p.Asn586=) rs202228332 0.00003
NM_000243.3(MEFV):c.540G>C (p.Pro180=) rs104895139 0.00001
NM_000435.3(NOTCH3):c.120C>T (p.Ala40=) rs146904189
NM_000518.4(HBB):c.-92C>G rs397515291
NM_000518.5(HBB):c.4G>A (p.Val2Met) rs33958358

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