ClinVar Miner

Variants with conflicting interpretations "pathogenic" from GeneDx and "likely benign" from any submitter

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:
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Total variants with conflicting interpretations: 29
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HGVS dbSNP gnomAD frequency
NM_002386.4(MC1R):c.478C>T (p.Arg160Trp) rs1805008 0.04851
UGT1A1*6 rs4148323 0.00891
NM_002386.4(MC1R):c.464T>C (p.Ile155Thr) rs1110400 0.00675
NM_001171.6(ABCC6):c.1171A>G (p.Arg391Gly) rs72653762 0.00459
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412 0.00403
NM_015836.4(WARS2):c.37T>G (p.Trp13Gly) rs139548132 0.00360
NM_003060.4(SLC22A5):c.1463G>A (p.Arg488His) rs28383481 0.00347
NM_002461.3(MVD):c.70+5G>A rs200035262 0.00306
NM_144991.3(TSPEAR):c.1915G>A (p.Asp639Asn) rs138480801 0.00244
NM_183374.3(CYP26C1):c.845_851dup (p.Gln284fs) rs565866662 0.00212
NM_000197.2(HSD17B3):c.133C>T (p.Arg45Trp) rs139084702 0.00200
NM_000094.4(COL7A1):c.4373C>T (p.Pro1458Leu) rs79378857 0.00150
NM_000040.3(APOC3):c.55C>T (p.Arg19Ter) rs76353203 0.00050
NM_002016.2(FLG):c.5840G>A (p.Trp1947Ter) rs560912365 0.00048
NM_004092.4(ECHS1):c.489G>A (p.Pro163=) rs140410716 0.00042
NM_001298.3(CNGA3):c.101+1G>A rs147118493 0.00014
NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter) rs200563280 0.00013
NM_001292063.2(OTOG):c.2080+5G>C rs765790706 0.00012
NM_006767.4(LZTR1):c.372C>T (p.Val124=) rs371891909 0.00006
NM_001069.3(TUBB2A):c.743C>T (p.Ala248Val) rs2808001 0.00003
NM_000527.5(LDLR):c.1222G>A (p.Glu408Lys) rs137943601 0.00001
NM_000540.3(RYR1):c.9571G>A (p.Gly3191Arg) rs756331568 0.00001
GRCh38/hg38 7q11.1-11.21(chr7:61006478-62410831)x3
NM_000350.3(ABCA4):c.859-9T>C rs529598960
NM_018418.5(SPATA7):c.20_23delTCAG rs527236050
NM_144773.4(PROKR2):c.253C>G (p.Arg85Gly) rs141090506
NM_178012.5(TUBB2B):c.743C>T (p.Ala248Val) rs777598117
NM_201253.3(CRB1):c.498_506del (p.Ile167_Gly169del) rs398124615
Single allele

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