ClinVar Miner

Variants with conflicting interpretations studied for Retinitis Pigmentosa, Recessive

Coded as:
Minimum review status of the submission for Retinitis Pigmentosa, Recessive: Y axis collection method of the submission for Retinitis Pigmentosa, Recessive:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
797 725 4 134 99 3 21 235

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

All conditions
Retinitis Pigmentosa, Recessive pathogenic likely pathogenic uncertain significance likely benign benign risk factor other
uncertain significance 1 7 0 47 33 0 0
likely benign 9 9 28 4 131 2 1
benign 0 0 0 3 0 0 0

Condition to condition summary #

Total conditions: 34
Download table as spreadsheet
Condition Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
not specified 0 52 0 126 59 0 0 184
not provided 0 140 4 24 29 0 4 60
Stargardt disease 1 0 2 0 0 4 1 11 16
Retinitis pigmentosa 25 0 5 0 4 4 0 0 8
Retinitis pigmentosa 26 0 0 0 1 3 0 0 4
ABCA4-Related Disorders 0 3 0 0 1 0 2 3
Leber congenital amaurosis 4 0 0 0 2 1 0 1 3
Retinitis pigmentosa 12; Leber congenital amaurosis 8 0 0 0 3 0 0 0 3
Bestrophinopathy, autosomal recessive 0 0 0 0 0 0 2 2
Cone/cone-rod dystrophy 0 0 0 0 0 0 2 2
MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO 0 0 0 0 0 2 0 2
Retinitis pigmentosa 0 0 0 0 1 0 1 2
Retinitis pigmentosa 45 0 0 0 1 1 0 0 2
Stargardt Disease, Recessive 0 100 0 0 0 0 2 2
BEST1-Related Disorders 0 0 0 0 0 0 1 1
Bardet-Biedl syndrome 0 32 0 0 1 0 0 1
Bardet-Biedl syndrome 3; Retinitis pigmentosa 55 0 0 0 1 0 0 0 1
Cone-rod dystrophy 16 0 0 0 0 1 0 0 1
Cone-rod dystrophy 3 0 0 0 0 0 0 1 1
Leber congenital amaurosis 2; Retinitis pigmentosa 20 0 0 0 0 1 0 0 1
Leber congenital amaurosis 3 0 0 0 0 1 0 0 1
Leber congenital amaurosis 8 0 0 0 0 1 0 0 1
Macular degeneration 0 102 0 0 1 0 0 1
Macular dystrophy 0 1 0 0 0 0 1 1
Pigmented paravenous chorioretinal atrophy 0 44 0 0 0 0 1 1
Retinal dystrophy 0 53 0 0 0 0 1 1
Retinitis pigmentosa 28 0 1 0 0 1 0 0 1
Retinitis pigmentosa 35 0 0 0 0 0 0 1 1
Retinitis pigmentosa 40 0 0 0 0 0 0 1 1
Retinitis pigmentosa 62 0 0 0 0 1 0 0 1
Severe Myopia 0 0 0 0 1 0 0 1
Usher syndrome, type 2A 0 0 0 1 0 0 0 1
Vitelliform macular dystrophy type 2 0 46 0 0 0 0 1 1
Vitreoretinochoroidopathy 0 47 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 235
Download table as spreadsheet
HGVS dbSNP
NM_000087.3(CNGA1):c.312A>G (p.Glu104=) rs76061451
NM_000087.3(CNGA1):c.352G>A (p.Asp118Asn) rs28642966
NM_000283.3(PDE6B):c.132C>G (p.Cys44Trp) rs199974771
NM_000283.3(PDE6B):c.1401+7_1401+8insA rs537010934
NM_000283.3(PDE6B):c.145G>T (p.Asp49Tyr) rs79826315
NM_000283.3(PDE6B):c.2326G>A (p.Asp776Asn) rs141563823
NM_000283.3(PDE6B):c.2344G>A (p.Val782Met) rs145124626
NM_000283.3(PDE6B):c.482G>A (p.Ser161Asn) rs574098823
NM_000283.3(PDE6B):c.615C>T (p.Asp205=) rs149293844
NM_000283.3(PDE6B):c.655T>C (p.Tyr219His) rs62295357
NM_000283.3(PDE6B):c.711+10C>T rs201100689
NM_000283.3(PDE6B):c.739T>A (p.Phe247Ile) rs780521818
NM_000283.3(PDE6B):c.794G>A (p.Arg265Gln) rs144562730
NM_000283.3(PDE6B):c.873T>C (p.Ser291=) rs142597807
NM_000283.3(PDE6B):c.905G>A (p.Gly302Asp) rs146646008
NM_000326.4(RLBP1):c.141+6G>A rs181321141
NM_000326.4(RLBP1):c.29T>A (p.Met10Lys) rs77384282
NM_000326.4(RLBP1):c.303C>T (p.Arg101=) rs144254383
NM_000326.4(RLBP1):c.346+3_346+8delGAGGCC rs56307321
NM_000326.4(RLBP1):c.545T>G (p.Phe182Cys) rs142244640
NM_000329.2(RPE65):c.1056G>A (p.Glu352=) rs12145904
NM_000329.2(RPE65):c.48T>C (p.Phe16=) rs62642581
NM_000350.2(ABCA4):c.1155C>T (p.Ile385=) rs376624031
NM_000350.2(ABCA4):c.1268A>G (p.His423Arg) rs3112831
NM_000350.2(ABCA4):c.1269C>T (p.His423=) rs4147831
NM_000350.2(ABCA4):c.1356+5_1356+6insC rs1553193877
NM_000350.2(ABCA4):c.1532G>A (p.Arg511His) rs140482171
NM_000350.2(ABCA4):c.1614C>T (p.Ala538=) rs201602424
NM_000350.2(ABCA4):c.1654G>A (p.Val552Ile) rs145525174
NM_000350.2(ABCA4):c.1805G>A (p.Arg602Gln) rs61749410
NM_000350.2(ABCA4):c.1927G>A (p.Val643Met) rs61749417
NM_000350.2(ABCA4):c.2646C>T (p.Gly882=) rs180921875
NM_000350.2(ABCA4):c.2690C>T (p.Thr897Ile) rs61749440
NM_000350.2(ABCA4):c.2791G>A (p.Val931Met) rs58331765
NM_000350.2(ABCA4):c.2828G>A (p.Arg943Gln) rs1801581
NM_000350.2(ABCA4):c.2875A>G (p.Thr959Ala) rs368846708
NM_000350.2(ABCA4):c.2964C>T (p.Leu988=) rs61754034
NM_000350.2(ABCA4):c.317A>T (p.Tyr106Phe) rs201150919
NM_000350.2(ABCA4):c.3285C>T (p.Tyr1095=) rs570745701
NM_000350.2(ABCA4):c.3602T>G (p.Leu1201Arg) rs61750126
NM_000350.2(ABCA4):c.3626T>C (p.Met1209Thr) rs76258939
NM_000350.2(ABCA4):c.3759G>A (p.Thr1253=) rs147884766
NM_000350.2(ABCA4):c.3899G>A (p.Arg1300Gln) rs61750129
NM_000350.2(ABCA4):c.4203C>A (p.Pro1401=) rs1801666
NM_000350.2(ABCA4):c.4203C>T (p.Pro1401=) rs1801666
NM_000350.2(ABCA4):c.4283C>T (p.Thr1428Met) rs1800549
NM_000350.2(ABCA4):c.4685T>C (p.Ile1562Thr) rs1762111
NM_000350.2(ABCA4):c.4771G>A (p.Gly1591Arg) rs113106943
NM_000350.2(ABCA4):c.4925G>T (p.Ser1642Ile) rs114518437
NM_000350.2(ABCA4):c.5603A>T (p.Asn1868Ile) rs1801466
NM_000350.2(ABCA4):c.5682G>C (p.Leu1894=) rs1801574
NM_000350.2(ABCA4):c.5814A>G (p.Leu1938=) rs4147857
NM_000350.2(ABCA4):c.5836-11G>A rs1800739
NM_000350.2(ABCA4):c.5843C>T (p.Pro1948Leu) rs56142141
NM_000350.2(ABCA4):c.5844A>G (p.Pro1948=) rs2275029
NM_000350.2(ABCA4):c.6148G>C (p.Val2050Leu) rs41292677
NM_000350.2(ABCA4):c.6249C>T (p.Ile2083=) rs1801359
NM_000350.2(ABCA4):c.6255C>T (p.Leu2085=) rs61748519
NM_000350.2(ABCA4):c.6282+7G>A rs17110761
NM_000350.2(ABCA4):c.6320G>A (p.Arg2107His) rs62642564
NM_000350.2(ABCA4):c.635G>A (p.Arg212His) rs6657239
NM_000350.2(ABCA4):c.6529G>A (p.Asp2177Asn) rs1800555
NM_000350.2(ABCA4):c.6732G>A (p.Val2244=) rs77293072
NM_000350.2(ABCA4):c.6764G>T (p.Ser2255Ile) rs6666652
NM_000350.2(ABCA4):c.71G>A (p.Arg24His) rs62645958
NM_000440.2(PDE6A):c.1476A>C (p.Gln492His) rs17711594
NM_000440.2(PDE6A):c.1791C>T (p.Phe597=) rs61733360
NM_000440.2(PDE6A):c.2337T>C (p.Phe779=) rs17110644
NM_000440.2(PDE6A):c.2400C>T (p.Asp800=) rs4705390
NM_000440.2(PDE6A):c.331A>C (p.Arg111=) rs2277925
NM_000440.2(PDE6A):c.465C>T (p.Asn155=) rs2277926
NM_000440.2(PDE6A):c.998+11C>T rs75319698
NM_000541.4(SAG):c.301G>A (p.Ala101Thr) rs141521563
NM_000541.4(SAG):c.375+11C>T rs74356516
NM_001012720.1(RGR):c.19C>T (p.Leu7=) rs11200938
NM_001012720.1(RGR):c.318T>C (p.Ser106=) rs143761967
NM_001012720.1(RGR):c.744+5A>G rs143720091
NM_001029883.2(PCARE):c.1297C>T (p.Pro433Ser) rs200696965
NM_001029883.2(PCARE):c.1582C>T (p.Arg528Cys) rs80151896
NM_001029883.2(PCARE):c.1739C>T (p.Thr580Met) rs10166913
NM_001029883.2(PCARE):c.2112T>C (p.Asn704=) rs10200693
NM_001029883.2(PCARE):c.2374C>G (p.Leu792Val) rs17744093
NM_001029883.2(PCARE):c.2499G>A (p.Pro833=) rs34253433
NM_001029883.2(PCARE):c.2889C>T (p.Ser963=) rs144569618
NM_001029883.2(PCARE):c.3668+14T>C rs72861052
NM_001029883.2(PCARE):c.3673_3675dupAGC (p.Ser1225_Glu1226insSer) rs139768554
NM_001030311.2(CERKL):c.239-12T>A rs6433923
NM_001030311.2(CERKL):c.242A>C (p.Asp81Ala) rs61750041
NM_001030311.2(CERKL):c.973+3A>G rs12623687
NM_001142800.1(EYS):c.-459C>T rs144371265
NM_001142800.1(EYS):c.1146T>C (p.Asn382=) rs974110
NM_001142800.1(EYS):c.1184+14T>C rs182780299
NM_001142800.1(EYS):c.1300-3C>T rs1936439
NM_001142800.1(EYS):c.1712A>G (p.Gln571Arg) rs61753610
NM_001142800.1(EYS):c.1809C>T (p.Val603=) rs9345601
NM_001142800.1(EYS):c.1922A>T (p.Glu641Val) rs17411795
NM_001142800.1(EYS):c.2024-14C>T rs45628235
NM_001142800.1(EYS):c.2733T>C (p.Asn911=) rs75634595
NM_001142800.1(EYS):c.359C>T (p.Thr120Met) rs12193967
NM_001142800.1(EYS):c.3787A>G (p.Ile1263Val) rs17404123
NM_001142800.1(EYS):c.3906C>T (p.His1302=) rs12663916
NM_001142800.1(EYS):c.3936A>G (p.Thr1312=) rs12662610
NM_001142800.1(EYS):c.3973C>G (p.Gln1325Glu) rs12663622
NM_001142800.1(EYS):c.4026C>T (p.Ser1342=) rs12663619
NM_001142800.1(EYS):c.4081A>G (p.Ile1361Val) rs17403955
NM_001142800.1(EYS):c.4093A>G (p.Lys1365Glu) rs16895519
NM_001142800.1(EYS):c.4352T>C (p.Ile1451Thr) rs62415828
NM_001142800.1(EYS):c.4543C>T (p.Arg1515Trp) rs62415827
NM_001142800.1(EYS):c.4549A>G (p.Ser1517Gly) rs62415826
NM_001142800.1(EYS):c.4554A>C (p.Thr1518=) rs772339340
NM_001142800.1(EYS):c.4593G>A (p.Glu1531=) rs62415825
NM_001142800.1(EYS):c.5244A>C (p.Leu1748Phe) rs57312007
NM_001142800.1(EYS):c.5510G>C (p.Trp1837Ser) rs199689193
NM_001142800.1(EYS):c.5617C>G (p.Leu1873Val) rs16895517
NM_001142800.1(EYS):c.5705A>T (p.Asn1902Ile) rs9353806
NM_001142800.1(EYS):c.5977A>G (p.Thr1993Ala) rs115066356
NM_001142800.1(EYS):c.6025A>G (p.Lys2009Glu) rs559078881
NM_001142800.1(EYS):c.6977G>A (p.Arg2326Gln) rs4710457
NM_001142800.1(EYS):c.7666A>T (p.Ser2556Cys) rs66462731
NM_001142800.1(EYS):c.9030A>G (p.Ala3010=) rs61754905
NM_001142800.1(EYS):c.9345_9347delTGT (p.Val3116del) rs536788112
NM_001242957.2(MAK):c.1715T>C (p.Ile572Thr) rs79544660
NM_001242957.2(MAK):c.975G>A (p.Pro325=) rs145014649
NM_001297.4(CNGB1):c.-47A>G rs186471030
NM_001297.4(CNGB1):c.1101_1103dupGGA (p.Glu371_Val372insGlu) rs141566950
NM_001297.4(CNGB1):c.1122-15C>T rs2303778
NM_001297.4(CNGB1):c.1580C>T (p.Ala527Val) rs78292723
NM_001297.4(CNGB1):c.159+14C>T rs199591689
NM_001297.4(CNGB1):c.1626C>T (p.Thr542=) rs148735841
NM_001297.4(CNGB1):c.1644T>C (p.Asp548=) rs2161703
NM_001297.4(CNGB1):c.1958-14A>C rs3991715
NM_001297.4(CNGB1):c.2218-12C>T rs483053
NM_001297.4(CNGB1):c.2233C>A (p.Leu745Ile) rs10459809
NM_001297.4(CNGB1):c.2664C>A (p.Ala888=) rs413562
NM_001297.4(CNGB1):c.2732A>G (p.Lys911Arg) rs2303785
NM_001297.4(CNGB1):c.2853C>A (p.Asp951Glu) rs7190978
NM_001297.4(CNGB1):c.3115G>A (p.Gly1039Arg) rs148999583
NM_001297.4(CNGB1):c.3135C>T (p.Asn1045=) rs539304668
NM_001297.4(CNGB1):c.327C>T (p.Gly109=) rs17821448
NM_001297.4(CNGB1):c.3556C>T (p.Pro1186Ser) rs7190372
NM_001297.4(CNGB1):c.412+8C>A rs185727761
NM_001297.4(CNGB1):c.606A>G (p.Glu202=) rs76788887
NM_001297.4(CNGB1):c.634A>T (p.Thr212Ser) rs192628905
NM_001297.4(CNGB1):c.712G>A (p.Gly238Ser) rs61745888
NM_002900.2(RBP3):c.837G>A (p.Thr279=) rs2376635
NM_003322.4(TULP1):c.776T>C (p.Ile259Thr) rs2064317
NM_004183.3(BEST1):c.1474G>A (p.Val492Ile) rs111326315
NM_004183.3(BEST1):c.1669G>A (p.Glu557Lys) rs147192139
NM_004183.3(BEST1):c.422G>A (p.Arg141His) rs121918284
NM_004183.3(BEST1):c.495G>A (p.Pro165=) rs182941675
NM_004183.3(BEST1):c.602T>C (p.Ile201Thr) rs199529046
NM_004183.3(BEST1):c.618G>A (p.Leu206=) rs62641693
NM_004183.3(BEST1):c.619C>A (p.Leu207Ile) rs74653691
NM_004183.3(BEST1):c.637-6C>T rs62639356
NM_006017.2(PROM1):c.129C>T (p.Thr43=) rs10033086
NM_006017.2(PROM1):c.15C>T (p.Leu5=) rs10033189
NM_006017.2(PROM1):c.1768-5C>T rs55708318
NM_006017.2(PROM1):c.1977C>T (p.Asn659=) rs149028760
NM_006017.2(PROM1):c.1983+14G>A rs4698436
NM_006017.2(PROM1):c.228G>A (p.Leu76=) rs76963591
NM_006017.2(PROM1):c.2374-4dupC rs34269395
NM_006017.2(PROM1):c.55T>G (p.Ser19Ala) rs189108830
NM_006017.2(PROM1):c.604C>G (p.Arg202Gly) rs140872693
NM_006017.2(PROM1):c.786G>A (p.Ala262=) rs2286455
NM_006017.2(PROM1):c.868A>C (p.Ser290Arg) rs182096110
NM_006343.2(MERTK):c.2028C>T (p.Tyr676=) rs56225811
NM_006343.2(MERTK):c.2608G>A (p.Val870Ile) rs2230517
NM_006343.2(MERTK):c.2916G>A (p.Ser972=) rs10205793
NM_006343.2(MERTK):c.353G>A (p.Ser118Asn) rs13027171
NM_006343.2(MERTK):c.60A>T (p.Arg20Ser) rs35898499
NM_006899.4(IDH3B):c.117+6C>A rs191680997
NM_007123.5(USH2A):c.1179A>G (p.Gln393=) rs148447919
NM_007123.5(USH2A):c.1530C>T (p.Asp510=) rs200940197
NM_007123.5(USH2A):c.1731C>T (p.Cys577=) rs41313732
NM_007123.5(USH2A):c.3532C>G (p.Pro1178Ala) rs372081834
NM_007123.5(USH2A):c.3621C>T (p.Ile1207=) rs146462407
NM_007123.5(USH2A):c.3648C>T (p.Tyr1216=) rs147947402
NM_007123.5(USH2A):c.3700A>G (p.Ile1234Val) rs200276882
NM_007123.5(USH2A):c.3801G>A (p.Ala1267=) rs537863698
NM_007123.5(USH2A):c.4586A>T (p.Lys1529Ile) rs41303255
NM_007123.5(USH2A):c.485+12T>C rs201857884
NM_007123.5(USH2A):c.486-15C>T rs114194722
NM_014249.3(NR2E3):c.419A>G (p.Glu140Gly) rs1805020
NM_014249.3(NR2E3):c.488T>C (p.Met163Thr) rs1805021
NM_014249.3(NR2E3):c.505C>T (p.Leu169=) rs1805022
NM_014249.3(NR2E3):c.900G>A (p.Thr300=) rs184906734
NM_014336.4(AIPL1):c.-17C>A rs188246267
NM_014336.4(AIPL1):c.1126C>T (p.Pro376Ser) rs61757484
NM_014336.4(AIPL1):c.267C>T (p.Cys89=) rs62653020
NM_014336.4(AIPL1):c.268G>C (p.Asp90His) rs12449580
NM_014336.4(AIPL1):c.277-10A>C rs12453262
NM_014336.4(AIPL1):c.300A>G (p.Leu100=) rs8075035
NM_014336.4(AIPL1):c.341C>T (p.Thr114Ile) rs8069375
NM_014336.4(AIPL1):c.516T>C (p.His172=) rs62637017
NM_014336.4(AIPL1):c.651A>G (p.Pro217=) rs2292546
NM_016247.3(IMPG2):c.3038C>T (p.Pro1013Leu) rs116450347
NM_018418.4(SPATA7):c.220G>A (p.Val74Met) rs3179969
NM_018418.4(SPATA7):c.4G>A (p.Asp2Asn) rs4904448
NM_018418.4(SPATA7):c.729C>T (p.Arg243=) rs151338404
NM_018418.4(SPATA7):c.815G>A (p.Arg272Gln) rs34682727
NM_022367.3(SEMA4A):c.1529G>A (p.Arg510Gln) rs2075164
NM_022367.3(SEMA4A):c.2138G>A (p.Arg713Gln) rs41265017
NM_022367.3(SEMA4A):c.2167C>T (p.Arg723Cys) rs199933282
NM_022367.3(SEMA4A):c.84G>A (p.Thr28=) rs149711133
NM_024887.3(DHDDS):c.140G>A (p.Arg47Gln) rs149949619
NM_032146.5(ARL6):c.480-8C>T rs77010939
NM_032180.2(FAM161A):c.1896T>C (p.Ile632=) rs138464813
NM_032180.2(FAM161A):c.197C>T (p.Thr66Ile) rs145199539
NM_144596.3(TTC8):c.-25G>A rs7145692
NM_144596.3(TTC8):c.1401G>A (p.Pro467=) rs114064158
NM_144596.3(TTC8):c.1432-12T>C rs79747892
NM_144596.3(TTC8):c.669G>A (p.Lys223=) rs141304350
NM_177965.3(C8orf37):c.528A>G (p.Thr176=) rs143748636
NM_201253.2(CRB1):c.*28T>C rs41302107
NM_201253.2(CRB1):c.1533C>T (p.Ala511=) rs142224492
NM_201253.2(CRB1):c.2103C>G (p.Pro701=) rs144436610
NM_201253.2(CRB1):c.2306G>A (p.Arg769His) rs62636287
NM_201253.2(CRB1):c.2307C>T (p.Arg769=) rs151104285
NM_201253.2(CRB1):c.2677-8C>T rs73071678
NM_201253.2(CRB1):c.2714G>A (p.Arg905Gln) rs114052315
NM_201253.2(CRB1):c.3992G>A (p.Arg1331His) rs62636285
NM_201253.2(CRB1):c.484G>A (p.Val162Met) rs137853138
NM_201253.2(CRB1):c.600A>G (p.Thr200=) rs77713666
NM_201253.2(CRB1):c.99G>T (p.Arg33Ser) rs59691602
NM_201548.4(CERKL):c.239-4dupT rs201864646
NM_201548.4(CERKL):c.313C>T (p.Arg105Trp) rs149078111
NM_201548.4(CERKL):c.66C>G (p.Pro22=) rs199762900
NM_201548.4(CERKL):c.735G>C (p.Leu245=) rs140898616
NM_201548.4(CERKL):c.820+9G>A rs189638090
NM_206933.2(USH2A):c.1419C>T (p.Thr473=) rs1805050
NM_206933.2(USH2A):c.2001C>T (p.His667=) rs142870255
NM_206933.2(USH2A):c.2137G>C (p.Gly713Arg) rs696723
NM_206933.2(USH2A):c.3812-8T>G rs646094
NM_206933.2(USH2A):c.4252-16_4252-13delCTTT rs372388546
NM_206933.2(USH2A):c.4440C>T (p.Ser1480=) rs111632670

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