ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Color Diagnostics, LLC DBA Color Health and "likely benign" from Invitae

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: 84
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000053.4(ATP7B):c.4135C>T (p.Pro1379Ser) rs181250704 0.00151
NM_000053.4(ATP7B):c.1995G>A (p.Met665Ile) rs72552259 0.00149
NM_000053.4(ATP7B):c.1993A>G (p.Met665Val) rs146303208 0.00053
NM_000335.5(SCN5A):c.5491C>G (p.Gln1831Glu) rs199473320 0.00041
NM_000540.3(RYR1):c.9635A>G (p.Glu3212Gly) rs199738299 0.00038
NM_000540.3(RYR1):c.4115C>T (p.Ala1372Val) rs370966353 0.00026
NM_000335.5(SCN5A):c.496G>A (p.Ala166Thr) rs201232332 0.00023
NM_000540.3(RYR1):c.2822C>T (p.Ala941Val) rs748568687 0.00020
NM_000053.4(ATP7B):c.3422C>G (p.Pro1141Arg) rs757549770 0.00018
NM_000540.3(RYR1):c.641C>T (p.Thr214Met) rs727504129 0.00014
NM_000540.3(RYR1):c.14270G>A (p.Arg4757His) rs768360593 0.00013
NM_003242.6(TGFBR2):c.367A>T (p.Met123Leu) rs768385200 0.00010
NM_000053.4(ATP7B):c.3416C>G (p.Ala1139Gly) rs199924281 0.00009
NM_000169.3(GLA):c.865A>G (p.Ile289Val) rs140329381 0.00009
NM_000540.3(RYR1):c.13849G>A (p.Gly4617Arg) rs202226983 0.00009
NM_000527.5(LDLR):c.1580T>C (p.Val527Ala) rs730882107 0.00008
NM_000540.3(RYR1):c.2251G>A (p.Val751Met) rs767667578 0.00007
NM_000540.3(RYR1):c.6670C>T (p.Arg2224Cys) rs199870223 0.00007
NM_000540.3(RYR1):c.8342T>C (p.Ile2781Thr) rs767805554 0.00007
NM_000548.5(TSC2):c.710C>T (p.Pro237Leu) rs139060277 0.00007
NM_000053.4(ATP7B):c.1351G>A (p.Gly451Ser) rs186300062 0.00006
NM_000053.4(ATP7B):c.496C>T (p.Arg166Trp) rs755476114 0.00006
NM_000069.3(CACNA1S):c.2630C>T (p.Ala877Val) rs200646947 0.00006
NM_000069.3(CACNA1S):c.4731C>G (p.Asp1577Glu) rs202120583 0.00006
NM_000335.5(SCN5A):c.393-5C>A rs368678204 0.00006
NM_000527.5(LDLR):c.1516G>A (p.Val506Met) rs373848925 0.00006
NM_000548.5(TSC2):c.2071C>T (p.Arg691Cys) rs760489473 0.00006
NM_000069.3(CACNA1S):c.1352C>T (p.Ser451Leu) rs35521793 0.00005
NM_000053.4(ATP7B):c.1158G>T (p.Gly386=) rs778775834 0.00004
NM_000069.3(CACNA1S):c.490C>T (p.Leu164Phe) rs747238231 0.00004
NM_000527.5(LDLR):c.1078G>C (p.Asp360His) rs777926251 0.00004
NM_004612.4(TGFBR1):c.1065A>C (p.Ala355=) rs758280185 0.00004
NM_004612.4(TGFBR1):c.1091C>G (p.Thr364Ser) rs201050937 0.00004
NM_000335.5(SCN5A):c.3206C>T (p.Thr1069Met) rs199473187 0.00003
NM_000335.5(SCN5A):c.5767G>A (p.Ala1923Thr) rs137854603 0.00003
NM_000548.5(TSC2):c.673G>A (p.Val225Met) rs142919353 0.00003
NM_005902.4(SMAD3):c.1070A>G (p.Asn357Ser) rs140880290 0.00003
NM_005902.4(SMAD3):c.1186A>G (p.Ile396Val) rs1317532064 0.00003
NM_005902.4(SMAD3):c.981C>G (p.His327Gln) rs780274581 0.00003
NM_000069.3(CACNA1S):c.3530A>T (p.Tyr1177Phe) rs774511818 0.00002
NM_000335.5(SCN5A):c.3316G>A (p.Glu1106Lys) rs199473193 0.00002
NM_000335.5(SCN5A):c.436G>A (p.Val146Met) rs199473061 0.00002
NM_000527.5(LDLR):c.2307C>G (p.His769Gln) rs760479588 0.00002
NM_004612.4(TGFBR1):c.199C>T (p.His67Tyr) rs766157497 0.00002
NM_005902.4(SMAD3):c.665A>G (p.Gln222Arg) rs755924969 0.00002
NM_005902.4(SMAD3):c.730G>A (p.Val244Ile) rs773543026 0.00002
NM_000053.4(ATP7B):c.2029G>A (p.Glu677Lys) rs2277447 0.00001
NM_000069.3(CACNA1S):c.2512G>A (p.Gly838Arg) rs1356510559 0.00001
NM_000069.3(CACNA1S):c.3823G>A (p.Val1275Ile) rs760441649 0.00001
NM_000069.3(CACNA1S):c.4166G>A (p.Arg1389Gln) rs756438139 0.00001
NM_000335.5(SCN5A):c.2497G>A (p.Gly833Arg) rs45475899 0.00001
NM_000335.5(SCN5A):c.4812C>T (p.Gly1604=) rs773016454 0.00001
NM_000368.5(TSC1):c.2723G>A (p.Arg908Gln) rs780115763 0.00001
NM_000527.5(LDLR):c.1420C>G (p.Gln474Glu) rs201967266 0.00001
NM_000527.5(LDLR):c.68-9C>G rs1284807471 0.00001
NM_005902.4(SMAD3):c.597C>T (p.Ser199=) rs769225687 0.00001
NM_005902.4(SMAD3):c.613C>T (p.Pro205Ser) rs150682850 0.00001
NM_000069.3(CACNA1S):c.3083C>T (p.Ala1028Val) rs751604155
NM_000069.3(CACNA1S):c.5005G>A (p.Ala1669Thr) rs199989324
NM_000169.3(GLA):c.1102G>A (p.Ala368Thr) rs144994244
NM_000169.3(GLA):c.802-10T>G rs1928176118
NM_000335.5(SCN5A):c.1372C>T (p.Arg458Cys) rs752130196
NM_000335.5(SCN5A):c.1756_1761del (p.Ala586_Leu587del) rs397517953
NM_000335.5(SCN5A):c.1891-8G>C rs12720064
NM_000335.5(SCN5A):c.2103G>T (p.Pro701=)
NM_000335.5(SCN5A):c.331T>C (p.Leu111=)
NM_000335.5(SCN5A):c.6007T>G (p.Phe2003Val) rs41311117
NM_000335.5(SCN5A):c.704-14C>A
NM_000368.5(TSC1):c.121C>A (p.Leu41Ile) rs118203334
NM_000368.5(TSC1):c.2432G>A (p.Arg811Gln) rs761281095
NM_000368.5(TSC1):c.348A>T (p.Leu116Phe) rs755799702
NM_000527.5(LDLR):c.148G>A (p.Ala50Thr) rs137853960
NM_000527.5(LDLR):c.1846-9C>A rs1568610732
NM_000527.5(LDLR):c.191-15C>G rs749245318
NM_000527.5(LDLR):c.2141-7C>A rs2147272729
NM_000527.5(LDLR):c.695-10T>G
NM_000527.5(LDLR):c.757C>T (p.Arg253Trp)
NM_000527.5(LDLR):c.769C>T (p.Arg257Trp)
NM_000540.3(RYR1):c.9123-14T>G rs2145659049
NM_000548.5(TSC2):c.4663-11_4663-5del rs760527750
NM_004612.4(TGFBR1):c.1131-8T>G rs1827799094
NM_004612.4(TGFBR1):c.574+7_574+8del
NM_005902.4(SMAD3):c.401-11C>A rs1962548669
NM_005902.4(SMAD3):c.659-12del

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.