ClinVar Miner

Variants with conflicting interpretations "likely benign" from Athena Diagnostics Inc and "uncertain significance" from Invitae

Minimum review status of the submission from Athena Diagnostics Inc: Collection method of the submission from Athena Diagnostics Inc:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 45
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HGVS dbSNP gnomAD frequency
NM_177924.5(ASAH1):c.629T>C (p.Met210Thr) rs141068211 0.00098
NM_005529.7(HSPG2):c.2335C>T (p.His779Tyr) rs149094407 0.00086
NM_005529.7(HSPG2):c.5648C>T (p.Ala1883Val) rs140954748 0.00078
NM_153766.3(KCNJ1):c.505C>T (p.Arg169Cys) rs138120505 0.00078
NM_175914.5(HNF4A):c.1321A>G (p.Ile441Val) rs147638455 0.00061
NM_005529.7(HSPG2):c.13033G>A (p.Gly4345Arg) rs148788926 0.00045
NM_173500.4(TTBK2):c.245G>C (p.Gly82Ala) rs200821440 0.00029
NM_000209.4(PDX1):c.418G>A (p.Ala140Thr) rs143517122 0.00022
NM_001039876.3(SYNE4):c.962G>A (p.Arg321Gln) rs150043310 0.00021
NM_002055.5(GFAP):c.676G>A (p.Val226Met) rs149883728 0.00020
NM_000209.4(PDX1):c.848G>A (p.Arg283Gln) rs754817283 0.00019
NM_001378452.1(ITPR1):c.2111G>C (p.Ser704Thr) rs373694009 0.00019
NM_207346.3(TSEN54):c.1079C>T (p.Ala360Val) rs368377822 0.00019
NM_018109.4(MTPAP):c.1313-3C>T rs201064853 0.00017
NM_006796.3(AFG3L2):c.536A>G (p.Tyr179Cys) rs368594369 0.00016
NM_005619.5(RTN2):c.1630G>A (p.Ala544Thr) rs201387324 0.00015
NM_173500.4(TTBK2):c.1015C>T (p.Leu339Phe) rs371538715 0.00013
NM_173500.4(TTBK2):c.1100A>T (p.Lys367Ile) rs764753481 0.00013
NM_173500.4(TTBK2):c.1247A>G (p.Asn416Ser) rs200010694 0.00013
NM_004172.5(SLC1A3):c.796G>A (p.Ala266Thr) rs146929198 0.00012
NM_006946.4(SPTBN2):c.406A>G (p.Met136Val) rs150610657 0.00012
NM_001961.4(EEF2):c.811G>A (p.Gly271Ser) rs200480185 0.00011
NM_004977.3(KCNC3):c.1991A>G (p.Asn664Ser) rs199833067 0.00011
NM_006946.4(SPTBN2):c.3431G>A (p.Arg1144Gln) rs558572111 0.00011
NM_018451.5(CENPJ):c.3803G>A (p.Gly1268Asp) rs151090294 0.00011
NM_173500.4(TTBK2):c.1408T>C (p.Cys470Arg) rs373500080 0.00011
NM_173500.4(TTBK2):c.3722A>C (p.Lys1241Thr) rs36104367 0.00011
NM_198994.3(TGM6):c.835G>A (p.Gly279Arg) rs375595045 0.00010
NM_000435.3(NOTCH3):c.4404C>T (p.Asn1468=) rs145425679 0.00007
NM_002055.5(GFAP):c.848A>G (p.Asn283Ser) rs201382676 0.00007
NM_006946.4(SPTBN2):c.1457C>A (p.Ala486Asp) rs763948508 0.00007
NM_006946.4(SPTBN2):c.3194G>A (p.Arg1065Gln) rs753324919 0.00007
NM_198994.3(TGM6):c.1102C>T (p.Arg368Trp) rs201326247 0.00007
NM_000435.3(NOTCH3):c.472G>A (p.Asp158Asn) rs544773641 0.00006
NM_024411.5(PDYN):c.520C>T (p.Arg174Cys) rs567558964 0.00006
NM_173500.4(TTBK2):c.1274G>A (p.Arg425His) rs370495535 0.00006
NM_000530.8(MPZ):c.211G>A (p.Glu71Lys) rs573007540 0.00004
NM_001378452.1(ITPR1):c.3494C>T (p.Thr1165Met) rs755486931 0.00004
NM_000370.3(TTPA):c.338A>G (p.Lys113Arg) rs200547556 0.00003
NM_006946.4(SPTBN2):c.5736C>G (p.Phe1912Leu) rs202247290 0.00003
NM_173500.4(TTBK2):c.3418C>T (p.Pro1140Ser) rs576737530 0.00003
NM_001961.4(EEF2):c.746G>A (p.Arg249Gln) rs769755490 0.00001
NM_000069.3(CACNA1S):c.1493G>A (p.Arg498His) rs150590855
NM_000545.8(HNF1A):c.1135C>G (p.Pro379Ala) rs754729248
NM_006516.4(SLC2A1):c.1408G>C (p.Gly470Arg) rs572648977

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