ClinVar Miner

Variants with conflicting interpretations "benign" from Eurofins NTD LLC (GA) and "uncertain significance" from Department of Pathology and Laboratory Medicine, Sinai Health System

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: 48
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HGVS dbSNP gnomAD frequency
NM_004360.5(CDH1):c.48+6C>T rs3743674 0.80384
NM_000152.5(GAA):c.324T>C (p.Cys108=) rs1800300 0.71989
NM_000152.5(GAA):c.2338G>A (p.Val780Ile) rs1126690 0.71839
NM_000152.5(GAA):c.596A>G (p.His199Arg) rs1042393 0.65667
NM_000152.5(GAA):c.547-4C>G rs3816256 0.65665
NM_000152.5(GAA):c.668G>A (p.Arg223His) rs1042395 0.65662
NM_000152.5(GAA):c.955+12G>A rs2252455 0.65487
NM_000152.5(GAA):c.1203G>A (p.Gln401=) rs1800304 0.65453
NM_000152.5(GAA):c.2553G>A (p.Gly851=) rs1042397 0.57872
NM_000053.4(ATP7B):c.3419T>C (p.Val1140Ala) rs1801249 0.57256
NM_000053.4(ATP7B):c.2855G>A (p.Arg952Lys) rs732774 0.56484
NM_000053.4(ATP7B):c.2495A>G (p.Lys832Arg) rs1061472 0.54674
NM_000053.4(ATP7B):c.3903+6C>T rs2282057 0.53754
NM_000243.3(MEFV):c.306T>C (p.Asp102=) rs224225 0.48544
NM_000243.3(MEFV):c.495C>A (p.Ala165=) rs224223 0.48450
NM_000053.4(ATP7B):c.1366G>C (p.Val456Leu) rs1801244 0.41941
NM_000249.4(MLH1):c.1668-19A>G rs9876116 0.41821
NM_000053.4(ATP7B):c.1216T>G (p.Ser406Ala) rs1801243 0.41549
NM_000540.3(RYR1):c.7835+5A>G rs1469695 0.38217
NM_000540.3(RYR1):c.8190T>C (p.Asp2730=) rs2915951 0.33482
NM_000540.3(RYR1):c.7977G>A (p.Thr2659=) rs2229144 0.33092
NM_000540.3(RYR1):c.8118T>C (p.Ile2706=) rs2960340 0.33086
NM_000540.3(RYR1):c.8589T>C (p.Ser2863=) rs2229146 0.32548
NM_000540.3(RYR1):c.9186A>G (p.Pro3062=) rs2071089 0.32394
NM_000540.3(RYR1):c.8693-10G>C rs2915958 0.32159
NM_000540.3(RYR1):c.8337G>A (p.Glu2779=) rs2915952 0.32150
NM_000071.3(CBS):c.1080C>T (p.Ala360=) rs1801181 0.30942
NM_000552.5(VWF):c.2880G>A (p.Arg960=) rs1800380 0.25897
NM_000540.3(RYR1):c.7614+10C>G rs2960323 0.23284
NM_000243.3(MEFV):c.605G>A (p.Arg202Gln) rs224222 0.20976
NM_000540.3(RYR1):c.7863C>T (p.His2621=) rs2229142 0.16420
NM_000455.5(STK11):c.920+7G>C rs2075607 0.16357
NM_000540.3(RYR1):c.10687-7C>T rs2960354 0.12378
NM_000540.3(RYR1):c.7098C>T (p.Pro2366=) rs2229147 0.10248
NM_000540.3(RYR1):c.7089C>T (p.Cys2363=) rs2228071 0.06536
NM_000540.3(RYR1):c.13317C>T (p.Ala4439=) rs113579185 0.04642
NM_000155.4(GALT):c.945T>C (p.His315=) rs61735982 0.03311
NM_014363.6(SACS):c.4466A>G (p.Asn1489Ser) rs147099630 0.00521
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu) rs41292677 0.00308
NM_000249.4(MLH1):c.1963A>G (p.Ile655Val) rs55907433 0.00297
NM_182914.3(SYNE2):c.20410G>A (p.Asp6804Asn) rs150644129 0.00259
NM_000179.3(MSH6):c.3439-16C>T rs192614006 0.00237
NM_001130438.3(SPTAN1):c.1330G>A (p.Val444Ile) rs77358650 0.00127
NM_000179.3(MSH6):c.3646+35_3646+38del rs1805181
NM_000243.3(MEFV):c.414A>G (p.Gly138=) rs224224
NM_000257.4(MYH7):c.3337-4dup rs45504498
NM_000540.3(RYR1):c.10188C>T (p.Asp3396=) rs2229145
Single allele

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