ClinVar Miner

Variants with conflicting interpretations "benign" from Eurofins NTD LLC (GA) and "uncertain significance" from PreventionGenetics, part of Exact Sciences

Minimum review status of the submission from Eurofins NTD LLC (GA): Collection method of the submission from Eurofins NTD LLC (GA):
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 8
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HGVS dbSNP gnomAD frequency
NM_000372.5(TYR):c.575C>A (p.Ser192Tyr) rs1042602 0.24593
NM_000443.4(ABCB4):c.2800G>A (p.Ala934Thr) rs61730509 0.00389
NM_000295.5(SERPINA1):c.922G>T (p.Ala308Ser) rs141620200 0.00222
NM_022436.3(ABCG5):c.293C>G (p.Ala98Gly) rs145164937 0.00190
NM_022124.6(CDH23):c.5753G>A (p.Arg1918Gln) rs115113440 0.00170
NM_000243.3(MEFV):c.586G>T (p.Gly196Trp) rs104895179
NM_000350.3(ABCA4):c.618C>G (p.Ser206Arg) rs61748536
NM_004380.3(CREBBP):c.6621_6629del (p.Gln2214_Gln2216del) rs727503890

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