ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Athena Diagnostics Inc and "benign" 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: 64
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000085.5(CLCNKB):c.1297+5G>T rs35351345 0.00544
NM_001379500.1(COL18A1):c.3406G>A (p.Gly1136Arg) rs199836125 0.00323
NM_012233.3(RAB3GAP1):c.2676G>T (p.Arg892Ser) rs144455066 0.00310
NM_004646.4(NPHS1):c.697A>G (p.Thr233Ala) rs35238405 0.00270
NM_000497.4(CYP11B1):c.1003A>G (p.Asn335Asp) rs61752766 0.00248
NM_004646.4(NPHS1):c.128T>C (p.Val43Ala) rs140626538 0.00205
NM_001365999.1(SZT2):c.4898C>T (p.Ser1633Leu) rs138762270 0.00197
NM_024306.5(FA2H):c.1113G>C (p.Thr371=) rs140017632 0.00191
NM_001038603.3(MARVELD2):c.898T>A (p.Leu300Met) rs72773422 0.00170
NM_006420.3(ARFGEF2):c.3892G>A (p.Gly1298Ser) rs139037316 0.00124
NM_016341.4(PLCE1):c.5782G>A (p.Val1928Ile) rs202171627 0.00101
NM_004999.4(MYO6):c.3530G>A (p.Arg1177His) rs139664153 0.00099
NM_005529.7(HSPG2):c.8381G>A (p.Arg2794Gln) rs141563188 0.00086
NM_032119.4(ADGRV1):c.3509A>G (p.Tyr1170Cys) rs188772875 0.00086
NM_032119.4(ADGRV1):c.12181G>T (p.Val4061Phe) rs200816323 0.00061
NM_004646.4(NPHS1):c.1747G>A (p.Glu583Lys) rs147641617 0.00059
NM_032119.4(ADGRV1):c.4666G>A (p.Glu1556Lys) rs200955930 0.00044
NM_032119.4(ADGRV1):c.14632C>T (p.Pro4878Ser) rs201072069 0.00041
NM_033380.3(COL4A5):c.2216C>A (p.Pro739His) rs201123438 0.00037
NM_030665.4(RAI1):c.4652C>T (p.Ser1551Leu) rs202158738 0.00032
NM_032119.4(ADGRV1):c.7873C>T (p.Arg2625Cys) rs201583659 0.00025
NM_016239.4(MYO15A):c.8347G>A (p.Val2783Met) rs201214320 0.00023
NM_001008537.3(NEXMIF):c.3775G>A (p.Ala1259Thr) rs761368099 0.00022
NM_004463.3(FGD1):c.62A>T (p.Asn21Ile) rs779475596 0.00017
NM_014363.6(SACS):c.2492A>G (p.Glu831Gly) rs375968367 0.00017
NM_033380.3(COL4A5):c.3958C>T (p.Pro1320Ser) rs754836509 0.00013
NM_001278116.2(L1CAM):c.3057T>G (p.Asp1019Glu) rs200815347 0.00012
NM_014363.6(SACS):c.4936C>A (p.Leu1646Met) rs200810800 0.00011
NM_018136.5(ASPM):c.933C>G (p.Ser311Arg) rs563858170 0.00011
NM_032737.4(LMNB2):c.1063G>A (p.Ala355Thr) rs143717863 0.00011
NM_014363.6(SACS):c.1463C>T (p.Pro488Leu) rs375875022 0.00009
NM_014363.6(SACS):c.2996T>C (p.Ile999Thr) rs371869943 0.00009
NM_024596.5(MCPH1):c.2395C>T (p.Pro799Ser) rs369127299 0.00008
NM_014363.6(SACS):c.6178G>C (p.Val2060Leu) rs373226693 0.00007
NM_014363.6(SACS):c.2024A>G (p.Asn675Ser) rs146395198 0.00006
NM_014363.6(SACS):c.9550C>T (p.Arg3184Cys) rs143557803 0.00006
NM_021830.5(TWNK):c.1975G>A (p.Ala659Thr) rs370814108 0.00006
NM_014363.6(SACS):c.6349G>A (p.Glu2117Lys) rs754033201 0.00005
NM_016239.4(MYO15A):c.5925G>A (p.Trp1975Ter) rs375290498 0.00005
NM_006946.4(SPTBN2):c.6283C>T (p.Arg2095Trp) rs761960627 0.00004
NM_014363.6(SACS):c.10256G>A (p.Arg3419His) rs536675517 0.00004
NM_014363.6(SACS):c.8192G>A (p.Arg2731His) rs201127191 0.00004
NM_001845.6(COL4A1):c.1055C>T (p.Pro352Leu) rs200786329 0.00003
NM_001278116.2(L1CAM):c.3326G>A (p.Arg1109His) rs782420127 0.00002
NM_014363.6(SACS):c.11302A>G (p.Thr3768Ala) rs774463808 0.00002
NM_014363.6(SACS):c.11380G>T (p.Val3794Phe) rs753844954 0.00002
NM_014363.6(SACS):c.12130G>C (p.Gly4044Arg) rs753511073 0.00002
NM_014363.6(SACS):c.1310C>T (p.Thr437Met) rs199657817 0.00002
NM_014363.6(SACS):c.6518T>C (p.Ile2173Thr) rs368624188 0.00002
NM_000352.6(ABCC8):c.3989-10C>T rs373737642 0.00001
NM_005619.5(RTN2):c.389C>T (p.Ala130Val) rs745409162 0.00001
NM_006946.4(SPTBN2):c.2464G>A (p.Glu822Lys) rs771402351 0.00001
NM_014363.6(SACS):c.6778A>G (p.Ile2260Val) rs202110208 0.00001
NM_000540.3(RYR1):c.13513G>C (p.Asp4505His) rs150396398
NM_014363.6(SACS):c.10238A>G (p.Tyr3413Cys)
NM_014363.6(SACS):c.10291G>A (p.Val3431Ile)
NM_014363.6(SACS):c.1066A>G (p.Ile356Val) rs148286091
NM_014363.6(SACS):c.12818T>G (p.Leu4273Arg)
NM_014363.6(SACS):c.13316A>G (p.Lys4439Arg)
NM_014363.6(SACS):c.3427C>G (p.Gln1143Glu)
NM_014363.6(SACS):c.394T>G (p.Leu132Val)
NM_015346.4(ZFYVE26):c.443G>C (p.Arg148Pro) rs144919978
NM_030665.4(RAI1):c.1915C>T (p.Pro639Ser) rs1030615093
NM_032119.4(ADGRV1):c.5785G>T (p.Ala1929Ser) rs41311335

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.