ClinVar Miner

Variants with conflicting interpretations "likely benign" from GeneDx and "uncertain significance" from Natera, Inc.

Minimum review status of the submission from GeneDx: Collection method of the submission from GeneDx:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 7
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HGVS dbSNP gnomAD frequency
NM_000255.4(MMUT):c.393G>A (p.Gln131=) rs145682249 0.00116
NM_000352.6(ABCC8):c.2610C>T (p.Ala870=) rs111967655 0.00116
NM_000352.6(ABCC8):c.1384A>G (p.Ile462Val) rs117874766 0.00097
NM_001142800.2(EYS):c.3250A>C (p.Thr1084Pro) rs778646190 0.00049
NM_004006.3(DMD):c.1318G>A (p.Glu440Lys) rs189143447 0.00010
NM_004006.3(DMD):c.1712T>C (p.Phe571Ser) rs1326680081 0.00001
NM_000352.6(ABCC8):c.3650+4C>G rs374315114

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