ClinVar Miner

Variants with conflicting interpretations "benign" from Color Diagnostics, LLC DBA Color Health and "likely benign" from CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario

Minimum review status of the submission from Color Diagnostics, LLC DBA Color Health: Collection method of the submission from Color Diagnostics, LLC DBA Color Health:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 51
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HGVS dbSNP gnomAD frequency
NM_004415.4(DSP):c.2815G>A (p.Gly939Ser) rs80325569 0.01244
NM_024334.3(TMEM43):c.934C>T (p.Arg312Trp) rs113449357 0.01077
NM_004415.4(DSP):c.3510G>A (p.Glu1170=) rs28763964 0.01023
NM_001035.3(RYR2):c.2204-7C>G rs147479514 0.00944
NM_001035.3(RYR2):c.3407C>T (p.Ala1136Val) rs72549415 0.00737
NM_000363.5(TNNI3):c.244C>T (p.Pro82Ser) rs77615401 0.00699
NM_004415.4(DSP):c.4455G>T (p.Arg1485Ser) rs113902911 0.00572
NM_024334.3(TMEM43):c.82C>T (p.Arg28Trp) rs35028636 0.00535
NM_001005242.3(PKP2):c.1460T>G (p.Ile487Ser) rs147240502 0.00417
NM_001035.3(RYR2):c.7488C>T (p.Leu2496=) rs143906555 0.00397
NM_001943.5(DSG2):c.1051A>G (p.Ser351Gly) rs139326669 0.00246
NM_002474.3(MYH11):c.3652-6C>T rs193922630 0.00219
NM_002474.3(MYH11):c.3928G>A (p.Val1310Met) rs7196804 0.00216
NM_004415.4(DSP):c.2596C>T (p.Arg866Cys) rs142429411 0.00214
NM_001035.3(RYR2):c.10324-4A>G rs72751287 0.00203
NM_016203.4(PRKAG2):c.298G>A (p.Gly100Ser) rs79474211 0.00144
NM_001035.3(RYR2):c.10641G>A (p.Thr3547=) rs144256966 0.00132
NM_003242.6(TGFBR2):c.1657T>A (p.Ser553Thr) rs112215250 0.00115
NM_000138.5(FBN1):c.6681A>C (p.Ser2227=) rs363824 0.00109
NM_000256.3(MYBPC3):c.3413G>A (p.Arg1138His) rs187705120 0.00106
NM_000257.4(MYH7):c.930T>C (p.Tyr310=) rs111626355 0.00091
NM_001035.3(RYR2):c.828A>G (p.Arg276=) rs180711819 0.00086
NM_000257.4(MYH7):c.3156G>A (p.Lys1052=) rs138294643 0.00063
NM_001035.3(RYR2):c.615C>T (p.Ala205=) rs112680790 0.00063
NM_000256.3(MYBPC3):c.3102C>T (p.Ala1034=) rs200663253 0.00058
NM_000138.5(FBN1):c.8385C>T (p.Ile2795=) rs138574576 0.00054
NM_001035.3(RYR2):c.10941T>G (p.Pro3647=) rs370332882 0.00051
NM_001035.3(RYR2):c.3888C>T (p.Asn1296=) rs373721253 0.00046
NM_004415.4(DSP):c.8301C>G (p.Thr2767=) rs145362059 0.00046
NM_001035.3(RYR2):c.9519T>C (p.Thr3173=) rs371931287 0.00039
NM_001943.5(DSG2):c.1781T>C (p.Leu594Pro) rs199681901 0.00038
NM_001035.3(RYR2):c.3720C>T (p.Ala1240=) rs750335699 0.00024
NM_024334.3(TMEM43):c.1111T>C (p.Tyr371His) rs116911972 0.00024
NM_004415.4(DSP):c.269A>G (p.Gln90Arg) rs188516326 0.00018
NM_002474.3(MYH11):c.3531G>A (p.Thr1177=) rs149980738 0.00017
NM_000432.4(MYL2):c.243G>T (p.Val81=) rs368851472 0.00015
NM_000256.3(MYBPC3):c.2460G>A (p.Arg820=) rs532996422 0.00014
NM_000138.5(FBN1):c.6054C>T (p.Val2018=) rs542953863 0.00013
NM_001943.5(DSG2):c.2643C>T (p.Thr881=) rs180695545 0.00010
NM_004415.4(DSP):c.7278T>C (p.Tyr2426=) rs78843072 0.00010
NM_002474.3(MYH11):c.1434C>T (p.Tyr478=) rs763773359 0.00007
NM_001018005.2(TPM1):c.27G>A (p.Gln9=) rs397516365 0.00006
NM_001276345.2(TNNT2):c.601-8C>T rs397516475 0.00006
NM_000257.4(MYH7):c.5736C>T (p.Ile1912=) rs200728597 0.00002
NM_000256.3(MYBPC3):c.1458-5G>A rs746542705 0.00001
NM_000256.3(MYBPC3):c.2800C>T (p.Leu934=) rs367980215 0.00001
NM_001035.3(RYR2):c.13656T>C (p.His4552=) rs397516512 0.00001
NM_000138.5(FBN1):c.6832C>T (p.Pro2278Ser) rs363835
NM_000258.3(MYL3):c.411G>T (p.Leu137=) rs2233265
NM_001005242.3(PKP2):c.406G>A (p.Val136Met) rs567795321
NM_005159.5(ACTC1):c.129+6C>G rs564151494

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