Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000243.3(MEFV):c.2080A>G (p.Met694Val)	SNV Germline	Chr16:3243407	Pathogenic/Likely pathogenic	Familial Mediterranean fever Condition: not provided Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Autoinflammatory syndrome Inborn genetic diseases Recurrent fever MEFV-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA280091	rs_61752717	53 SubmittersRCV000002647 RCV000216751 RCV000763381 RCV001028046 RCV001197704 RCV001535935 RCV002262539 RCV002415387 RCV003325449 RCV003335011
NM_000243.3(MEFV):c.2082G>A (p.Met694Ile)	SNV Germline	Chr16:3243405	Pathogenic/Likely pathogenic	Familial Mediterranean fever Condition: not provided Familial Mediterranean fever, autosomal dominant Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Autoinflammatory syndrome MEFV-related disorder Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant	Criteria Provided Multiple Submitters No Conflicts	CA280093	rs_28940578	38 SubmittersRCV000002648 RCV000220431 RCV000589706 RCV000763380 RCV002262540 RCV004528066 RCV005016225
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala)	SNV Germline	Chr16:3243310	Pathogenic/Likely pathogenic	Familial Mediterranean fever Condition: not provided Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Inborn genetic diseases Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Autoinflammatory syndrome MEFV-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA280095	rs_28940579	51 SubmittersRCV000002649 RCV000220654 RCV000515437 RCV000623003 RCV000984975 RCV001535867 RCV002262541 RCV004739280
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln)	SNV Germline	Chr16:3254626	Conflicting classifications of pathogenicity	Familial Mediterranean fever not specified Condition: not provided Familial Mediterranean fever, autosomal dominant Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Inborn genetic diseases See cases Autoinflammatory syndrome Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant MEFV-related disorder Systemic lupus erythematosus	Criteria Provided Conflicting Classifications	CA280097	rs_3743930	37 SubmittersRCV000002651 RCV000218652 RCV000513398 RCV000761446 RCV000768024 RCV002326658 RCV002251861 RCV002262542 RCV003224086 RCV004528067 RCV005208118
NM_000243.3(MEFV):c.501G>C (p.Glu167Asp)	SNV Germline	Chr16:3254567	Conflicting classifications of pathogenicity	Familial Mediterranean fever Condition: not provided Autoinflammatory syndrome Familial Mediterranean fever, autosomal dominant not specified Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant Familial Mediterranean fever	Criteria Provided Conflicting Classifications	CA280099	rs_104895079	17 SubmittersRCV000002652 RCV000588525 RCV002262543 RCV001262294 RCV003230342 RCV005016226
NM_000243.3(MEFV):c.800C>T (p.Thr267Ile)	SNV Germline	Chr16:3254268	Conflicting classifications of pathogenicity	Familial Mediterranean fever not specified Condition: not provided Familial Mediterranean fever, autosomal dominant Autoinflammatory syndrome MEFV-related disorder Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant Familial Mediterranean fever	Criteria Provided Conflicting Classifications	CA280101	rs_104895081	17 SubmittersRCV000002653 RCV000991330 RCV000996177 RCV001535446 RCV002262544 RCV004532273 RCV005016227
NM_000243.3(MEFV):c.1437C>G (p.Phe479Leu)	SNV Germline	Chr16:3247166	Conflicting classifications of pathogenicity	Familial Mediterranean fever Condition: not provided Autoinflammatory syndrome Familial Mediterranean fever, autosomal dominant not specified Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Familial Mediterranean fever	Criteria Provided Conflicting Classifications	CA280103	rs_104895083	19 SubmittersRCV000002654 RCV000508324 RCV002262545 RCV003466786 RCV003230343 RCV005016228 RCV004771453
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg)	SNV Germline	Chr16:3243403	Conflicting classifications of pathogenicity	Familial Mediterranean fever Condition: not provided 6 conditions Inborn genetic diseases not specified Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Heart, malformation of Abnormal cardiovascular system morphology Renal insufficiency Autoinflammatory syndrome Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant MEFV-related disorder	Criteria Provided Conflicting Classifications	CA280105	rs_104895094	39 SubmittersRCV000002656 RCV000213470 RCV000415431 RCV000622573 RCV000508192 RCV000768021 RCV001270033 RCV002262546 RCV003389035 RCV003224087 RCV004739281
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser)	SNV Germline	Chr16:3243257	Conflicting classifications of pathogenicity	Familial Mediterranean fever Condition: not provided Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant not specified Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Familial Mediterranean fever, autosomal dominant Autoinflammatory syndrome Inborn genetic diseases MEFV-related disorder	Criteria Provided Conflicting Classifications	CA280107	rs_61732874	41 SubmittersRCV000002657 RCV000213702 RCV000768020 RCV000999738 RCV001535864 RCV001770031 RCV002262547 RCV002415388 RCV004532274
NM_000243.3(MEFV):c.2282G>A (p.Arg761His)	SNV Germline	Chr16:3243205	Pathogenic/Likely pathogenic	Familial Mediterranean fever Condition: not provided Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Autoinflammatory syndrome Inborn genetic diseases Familial Mediterranean fever, autosomal dominant MEFV-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA280110	rs_104895097	33 SubmittersRCV000002658 RCV000217233 RCV000763379 RCV001536101 RCV002262548 RCV002512683 RCV003466787 RCV004739282
NM_000243.3(MEFV):c.2040G>A (p.Met680Ile)	SNV Germline	Chr16:3243447	Pathogenic	Familial Mediterranean fever Condition: not provided Familial Mediterranean fever, autosomal dominant Autoinflammatory syndrome MEFV-related disorder Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant	Criteria Provided Multiple Submitters No Conflicts	CA280112	rs_28940580	24 SubmittersRCV000002659 RCV000216518 RCV001283820 RCV002262549 RCV004724727 RCV005016229
NM_000243.3(MEFV):c.1958G>A (p.Arg653His)	SNV Germline	Chr16:3243529	Pathogenic/Likely pathogenic	Familial Mediterranean fever Condition: not provided Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant	Criteria Provided Multiple Submitters No Conflicts	CA280118	rs_104895085	14 SubmittersRCV000002662 RCV000255083 RCV003466788 RCV005016230
NM_000243.3(MEFV):c.443A>T (p.Glu148Val)	SNV Germline	Chr16:3254625	Conflicting classifications of pathogenicity	Familial Mediterranean fever not specified Condition: not provided Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant Familial Mediterranean fever Acute febrile neutrophilic dermatosis Autoinflammatory syndrome Familial Mediterranean fever, autosomal dominant	Criteria Provided Conflicting Classifications	CA280120	rs_104895076	13 SubmittersRCV000002663 RCV000216721 RCV000415966 RCV002482818 RCV003125826 RCV002262552 RCV003125825
NM_000243.3(MEFV):c.1432C>T (p.His478Tyr)	SNV Germline	Chr16:3247171	Conflicting classifications of pathogenicity	Familial Mediterranean fever, autosomal dominant Familial Mediterranean fever Condition: not provided Acute febrile neutrophilic dermatosis	Criteria Provided Conflicting Classifications	CA115610	rs_104895105	7 SubmittersRCV000002666 RCV000083696 RCV001562614 RCV003125827
NM_000243.3(MEFV):c.1260+10C>T	SNV Germline	Chr16:3249421	Conflicting classifications of pathogenicity	Familial Mediterranean fever Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant not specified Condition: not provided Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Autoinflammatory syndrome	Criteria Provided Conflicting Classifications	CA280244	rs_104895137	9 SubmittersRCV000030170 RCV001280974 RCV001000668 RCV001705603 RCV003224107 RCV002262578
NM_000243.3(MEFV):c.1318C>G (p.Gln440Glu)	SNV Germline	Chr16:3248947	Conflicting classifications of pathogenicity	Condition: not provided Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Familial Mediterranean fever not specified Autoinflammatory syndrome See cases Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis	Criteria Provided Conflicting Classifications	CA280245	rs_11466026	10 SubmittersRCV000586627 RCV001281041 RCV000989483 RCV001526854 RCV002262579 RCV002251931 RCV003224108
NM_000243.3(MEFV):c.1503C>T (p.Arg501=)	SNV Germline	Chr16:3247100	Conflicting classifications of pathogenicity	Familial Mediterranean fever not specified Autoinflammatory syndrome Inborn genetic diseases Condition: not provided Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis	Criteria Provided Conflicting Classifications	CA280251	rs_76464258	12 SubmittersRCV000030173 RCV000251198 RCV002262581 RCV002390122 RCV001689576 RCV003125839 RCV003125840
NM_000243.3(MEFV):c.1772T>C (p.Ile591Thr)	SNV Germline	Chr16:3243880	Conflicting classifications of pathogenicity	Familial Mediterranean fever not specified Condition: not provided Acute febrile neutrophilic dermatosis Autoinflammatory syndrome Inborn genetic diseases Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant	Criteria Provided Conflicting Classifications	CA280263	rs_11466045	13 SubmittersRCV000030178 RCV000214973 RCV000589464 RCV001197906 RCV002262585 RCV002408482 RCV003224109
NM_000243.3(MEFV):c.2040G>C (p.Met680Ile)	SNV Germline	Chr16:3243447	Pathogenic	Familial Mediterranean fever Condition: not provided Acute febrile neutrophilic dermatosis See cases Familial Mediterranean fever, autosomal dominant Inborn genetic diseases Autoinflammatory syndrome Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant MEFV-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA280267	rs_28940580	39 SubmittersRCV000030179 RCV000222364 RCV001197705 RCV002251932 RCV002254152 RCV002415433 RCV002262586 RCV002477026 RCV004739312
NM_000243.3(MEFV):c.941G>A (p.Arg314His)	SNV Germline	Chr16:3249750	Conflicting classifications of pathogenicity	Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Condition: not provided Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis	Criteria Provided Conflicting Classifications	CA280283	rs_104895204	8 SubmittersRCV000030187 RCV003125843 RCV003480037 RCV003125844 RCV005016300
NM_000243.3(MEFV):c.97G>T (p.Val33Leu)	SNV Germline	Chr16:3256491	Conflicting classifications of pathogenicity	Familial Mediterranean fever Condition: not provided Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Familial Mediterranean fever, autosomal dominant not specified Autoinflammatory syndrome Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis	Criteria Provided Conflicting Classifications	CA280289	rs_11466016	9 SubmittersRCV000030189 RCV000589938 RCV000768268 RCV001276303 RCV001290446 RCV002262594 RCV003224110
NM_000243.3(MEFV):c.863C>A (p.Ser288Tyr)	SNV Germline/somatic	Chr16:3254205	Conflicting classifications of pathogenicity	Familial Mediterranean fever Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant	Criteria Provided Conflicting Classifications	CA280335	rs_387907567	5 SubmittersRCV000049562 RCV002483065 RCV003125890 RCV003125889
NM_000243.3(MEFV):c.343C>A (p.Pro115Thr)	SNV Germline/somatic	Chr16:3254725	Conflicting classifications of pathogenicity	Familial Mediterranean fever Condition: not provided not specified Autoinflammatory syndrome Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis	Criteria Provided Conflicting Classifications	CA280349	rs_147557169	9 SubmittersRCV000083246 RCV000221844 RCV001193206 RCV002262627 RCV005016362
NM_000243.3(MEFV):c.1043G>A (p.Arg348His)	SNV Germline	Chr16:3249648	Conflicting classifications of pathogenicity	Familial Mediterranean fever not specified Condition: not provided Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Autoinflammatory syndrome	Criteria Provided Conflicting Classifications	CA280361	rs_104895198	9 SubmittersRCV000083679 RCV000417776 RCV000755567 RCV005357533 RCV002262629
NM_000243.3(MEFV):c.1060C>T (p.Arg354Trp)	SNV Germline	Chr16:3249631	Conflicting classifications of pathogenicity	Familial Mediterranean fever Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Condition: not provided Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis	Criteria Provided Conflicting Classifications	CA280367	rs_104895116	8 SubmittersRCV000083681 RCV002483159 RCV003480054 RCV003126415 RCV003126416
NM_000243.3(MEFV):c.1089C>T (p.Ser363=)	SNV Germline	Chr16:3249602	Conflicting classifications of pathogenicity	Familial Mediterranean fever not specified Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis	Criteria Provided Conflicting Classifications	CA280370	rs_104895170	4 SubmittersRCV000083682 RCV000615290 RCV003126417 RCV003126418
NM_000243.3(MEFV):c.1091C>T (p.Pro364Leu)	SNV Germline	Chr16:3249600	Conflicting classifications of pathogenicity	Familial Mediterranean fever Autoinflammatory syndrome Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant	Criteria Provided Conflicting Classifications	CA280373	rs_104895214	5 SubmittersRCV000083683 RCV002262630 RCV002490734 RCV003126420 RCV003126419
NM_000243.3(MEFV):c.1179C>T (p.Pro393=)	SNV Germline	Chr16:3249512	Conflicting classifications of pathogenicity	Familial Mediterranean fever Acute febrile neutrophilic dermatosis not specified Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant	Criteria Provided Conflicting Classifications	CA280379	rs_104895082	6 SubmittersRCV000083685 RCV003126422 RCV001192541 RCV002490735 RCV003126421
NM_000243.3(MEFV):c.1261-28A>G	SNV Germline	Chr16:3249032	Conflicting classifications of pathogenicity	Familial Mediterranean fever Condition: not provided Central core myopathy Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant	Criteria Provided Conflicting Classifications	CA280388	rs_104895140	6 SubmittersRCV000083690 RCV001711585 RCV001258254 RCV003126424 RCV003126423
NM_000243.3(MEFV):c.1370C>T (p.Ala457Val)	SNV Germline	Chr16:3247233	Conflicting classifications of pathogenicity	Familial Mediterranean fever Condition: not provided not specified Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant	Criteria Provided Conflicting Classifications	CA280392	rs_104895151	10 SubmittersRCV000083692 RCV000512979 RCV000855597 RCV003224140 RCV001280972
NM_000243.3(MEFV):c.1405G>T (p.Val469Leu)	SNV Germline	Chr16:3247198	Conflicting classifications of pathogenicity	Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Condition: not provided Acute febrile neutrophilic dermatosis not specified	Criteria Provided Conflicting Classifications	CA280395	rs_104895173	5 SubmittersRCV000083693 RCV003126425 RCV005251061 RCV003126426 RCV001553681
NM_000243.3(MEFV):c.1459G>A (p.Val487Met)	SNV Germline	Chr16:3247144	Conflicting classifications of pathogenicity	Familial Mediterranean fever Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis	Criteria Provided Conflicting Classifications	CA280403	rs_104895100	6 SubmittersRCV000083697 RCV003126428 RCV003126427 RCV002477245
NM_000243.3(MEFV):c.1501C>G (p.Arg501Gly)	SNV Germline	Chr16:3247102	Conflicting classifications of pathogenicity	Familial Mediterranean fever Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant	Criteria Provided Conflicting Classifications	CA280409	rs_104895101	5 SubmittersRCV000083699 RCV003126430 RCV002483160 RCV003126429
NM_000243.3(MEFV):c.1538T>C (p.Ile513Thr)	SNV Germline	Chr16:3247065	Conflicting classifications of pathogenicity	Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Condition: not provided Acute febrile neutrophilic dermatosis	Criteria Provided Conflicting Classifications	CA280418	rs_104895199	4 SubmittersRCV000083702 RCV003126431 RCV001753485 RCV003126432
NM_000243.3(MEFV):c.1744A>C (p.Met582Leu)	SNV Germline	Chr16:3244269	Conflicting classifications of pathogenicity	Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Autoinflammatory syndrome not specified Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Acute febrile neutrophilic dermatosis	Criteria Provided Conflicting Classifications	CA280431	rs_104895165	8 SubmittersRCV000083708 RCV003126433 RCV002262634 RCV003488380 RCV002483161 RCV003126434
NM_000243.3(MEFV):c.1760-28T>A	SNV Germline	Chr16:3243920	Conflicting classifications of pathogenicity	Familial Mediterranean fever Condition: not provided Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis not specified	Criteria Provided Conflicting Classifications	CA280434	rs_104895169	6 SubmittersRCV000083709 RCV001701499 RCV005394355 RCV005237525
NM_000243.3(MEFV):c.1795A>G (p.Asn599Asp)	SNV Germline	Chr16:3243692	Conflicting classifications of pathogenicity	Familial Mediterranean fever Condition: not provided Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant Autoinflammatory syndrome	Criteria Provided Conflicting Classifications	CA280449	rs_104895210	7 SubmittersRCV000083716 RCV000218478 RCV002505013 RCV003126436 RCV003126435 RCV002262636
NM_000243.3(MEFV):c.1827C>G (p.Pro609=)	SNV Germline	Chr16:3243660	Conflicting classifications of pathogenicity	Familial Mediterranean fever Condition: not provided Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant not specified Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA280456	rs_104895135	7 SubmittersRCV000083718 RCV000834990 RCV003126438 RCV003126437 RCV001797624 RCV004948178
NM_000243.3(MEFV):c.1894G>A (p.Gly632Ser)	SNV Germline	Chr16:3243593	Conflicting classifications of pathogenicity	Familial Mediterranean fever Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Condition: not provided	Criteria Provided Conflicting Classifications	CA280459	rs_104895128	12 SubmittersRCV000083719 RCV000763382 RCV003447490 RCV003224141 RCV001811392
NM_000243.3(MEFV):c.2024G>A (p.Ser675Asn)	SNV Germline	Chr16:3243463	Conflicting classifications of pathogenicity	Familial Mediterranean fever Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant	Criteria Provided Conflicting Classifications	CA280485	rs_104895087	4 SubmittersRCV000083730 RCV000768022 RCV003224142 RCV003126440 RCV003126439
NM_000243.3(MEFV):c.2033G>A (p.Gly678Glu)	SNV Germline	Chr16:3243454	Conflicting classifications of pathogenicity	Familial Mediterranean fever Condition: not provided Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant	Criteria Provided Conflicting Classifications	CA280487	rs_104895088	8 SubmittersRCV000083731 RCV000414076 RCV002498439 RCV003126442 RCV003126441
NM_000243.3(MEFV):c.2109C>T (p.Ser703=)	SNV Germline	Chr16:3243378	Conflicting classifications of pathogenicity	Familial Mediterranean fever Condition: not provided Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant not specified Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA280523	rs_104895118	9 SubmittersRCV000083745 RCV001539987 RCV002498440 RCV003126446 RCV003126445 RCV005237526 RCV005364978
NM_000243.3(MEFV):c.2110G>A (p.Val704Ile)	SNV Germline	Chr16:3243377	Conflicting classifications of pathogenicity	Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis	Criteria Provided Conflicting Classifications	CA280526	rs_104895096	4 SubmittersRCV000083746 RCV003126447 RCV003126448
NM_000243.3(MEFV):c.2122C>T (p.Arg708Cys)	SNV Germline	Chr16:3243365	Conflicting classifications of pathogenicity	Familial Mediterranean fever not specified Autoinflammatory syndrome Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Condition: not provided	Criteria Provided Conflicting Classifications	CA280530	rs_104895202	8 SubmittersRCV000083748 RCV000780404 RCV002262641 RCV003126449 RCV003126450 RCV004791263
NM_000243.3(MEFV):c.2160C>G (p.Ile720Met)	SNV Germline	Chr16:3243327	Conflicting classifications of pathogenicity	Familial Mediterranean fever Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant not specified MEFV-related disorder Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis	Criteria Provided Conflicting Classifications	CA280539	rs_104895102	10 SubmittersRCV000083751 RCV003126452 RCV003126451 RCV000780406 RCV004529874 RCV005016366
NM_000243.3(MEFV):c.2164G>A (p.Val722Met)	SNV Germline	Chr16:3243323	Conflicting classifications of pathogenicity	Familial Mediterranean fever Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant not specified Condition: not provided Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis	Criteria Provided Conflicting Classifications	CA280541	rs_104895201	10 SubmittersRCV000083752 RCV003126454 RCV003126453 RCV001175016 RCV001701661 RCV005016367
NM_000243.3(MEFV):c.2169C>T (p.Asp723=)	SNV Germline	Chr16:3243318	Conflicting classifications of pathogenicity	Familial Mediterranean fever not specified Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant	Criteria Provided Conflicting Classifications	CA280544	rs_104895117	4 SubmittersRCV000083753 RCV000780403 RCV003126456 RCV003126455
NM_000243.3(MEFV):c.2229C>G (p.Phe743Leu)	SNV Germline	Chr16:3243258	Conflicting classifications of pathogenicity	Familial Mediterranean fever Condition: not provided Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant	Criteria Provided Conflicting Classifications	CA280550	rs_104895152	7 SubmittersRCV000083755 RCV003133133 RCV002483162 RCV003126458 RCV003126457
NM_000243.3(MEFV):c.2246C>G (p.Ser749Cys)	SNV Germline	Chr16:3243241	Conflicting classifications of pathogenicity	Familial Mediterranean fever Condition: not provided not specified Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant	Criteria Provided Conflicting Classifications	CA280555	rs_104895171	9 SubmittersRCV000083757 RCV000520754 RCV001000179 RCV002498441 RCV003126460 RCV003126459
NM_000243.3(MEFV):c.2263A>G (p.Ile755Val)	SNV Germline	Chr16:3243224	Conflicting classifications of pathogenicity	Familial Mediterranean fever Condition: not provided Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis	Criteria Provided Conflicting Classifications	CA280561	rs_104895194	6 SubmittersRCV000083759 RCV001562685 RCV003126462 RCV003126461 RCV002483163
NM_000243.3(MEFV):c.2314A>G (p.Ile772Val)	SNV Germline	Chr16:3243173	Conflicting classifications of pathogenicity	Familial Mediterranean fever Condition: not provided Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant	Criteria Provided Conflicting Classifications	CA280566	rs_104895163	7 SubmittersRCV000083761 RCV000223191 RCV003126464 RCV002498442 RCV003126463
NM_000243.3(MEFV):c.2337G>C (p.Gly779=)	SNV Germline	Chr16:3243150	Conflicting classifications of pathogenicity	Familial Mediterranean fever Inborn genetic diseases Acute febrile neutrophilic dermatosis Condition: not provided Familial Mediterranean fever, autosomal dominant	Criteria Provided Conflicting Classifications	CA280569	rs_104895153	7 SubmittersRCV000083762 RCV002444555 RCV003126466 RCV001704008 RCV003126465
NM_000243.3(MEFV):c.2338C>A (p.Pro780Thr)	SNV Germline	Chr16:3243149	Conflicting classifications of pathogenicity	Familial Mediterranean fever Condition: not provided Familial Mediterranean fever, autosomal dominant not specified Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Autoinflammatory syndrome Acute febrile neutrophilic dermatosis	Criteria Provided Conflicting Classifications	CA280572	rs_104895154	11 SubmittersRCV000083763 RCV000217446 RCV003126467 RCV002298469 RCV005016368 RCV002262642 RCV003126468
NM_000243.3(MEFV):c.265G>A (p.Ala89Thr)	SNV Germline	Chr16:3256323	Conflicting classifications of pathogenicity	Familial Mediterranean fever Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant not specified	Criteria Provided Conflicting Classifications	CA280577	rs_104895124	7 SubmittersRCV000083765 RCV002483164 RCV003126470 RCV003126469 RCV002281918
NM_000243.3(MEFV):c.322A>C (p.Ser108Arg)	SNV Germline	Chr16:3254746	Conflicting classifications of pathogenicity	Familial Mediterranean fever Condition: not provided not specified Autoinflammatory syndrome Inborn genetic diseases Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis	Criteria Provided Conflicting Classifications	CA280583	rs_104895103	13 SubmittersRCV000083767 RCV000586697 RCV001000180 RCV002262644 RCV002321581 RCV002477246 RCV003126471 RCV003126472
NM_000243.3(MEFV):c.422G>T (p.Ser141Ile)	SNV Germline	Chr16:3254646	Conflicting classifications of pathogenicity	Familial Mediterranean fever not specified Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis	Criteria Provided Conflicting Classifications	CA280601	rs_104895130	5 SubmittersRCV000083774 RCV002509206 RCV003126475 RCV003126476
NM_000243.3(MEFV):c.524C>A (p.Pro175His)	SNV Germline	Chr16:3254544	Conflicting classifications of pathogenicity	Familial Mediterranean fever Condition: not provided Autoinflammatory syndrome not specified Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis	Criteria Provided Conflicting Classifications	CA280615	rs_104895126	8 SubmittersRCV000083779 RCV001588911 RCV002262647 RCV005237527 RCV003126478 RCV003126477 RCV002490736
NM_000243.3(MEFV):c.530C>T (p.Thr177Ile)	SNV Germline	Chr16:3254538	Conflicting classifications of pathogenicity	Familial Mediterranean fever Condition: not provided Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant	Criteria Provided Conflicting Classifications	CA280618	rs_104895143	6 SubmittersRCV000083780 RCV001811393 RCV003126480 RCV003126479
NM_000243.3(MEFV):c.540G>C (p.Pro180=)	SNV Germline	Chr16:3254528	Conflicting classifications of pathogenicity	Familial Mediterranean fever not specified Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis	Criteria Provided Conflicting Classifications	CA280626	rs_104895139	6 SubmittersRCV000083783 RCV000610894 RCV003126481 RCV003126482
NM_000243.3(MEFV):c.688G>A (p.Glu230Lys)	SNV Germline	Chr16:3254380	Conflicting classifications of pathogenicity	Familial Mediterranean fever Condition: not provided not specified Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Autoinflammatory syndrome Familial Mediterranean fever, autosomal dominant	Criteria Provided Conflicting Classifications	CA280639	rs_104895080	14 SubmittersRCV000083789 RCV000213898 RCV002265603 RCV001027835 RCV003224143 RCV002262651 RCV004546431
NM_000243.3(MEFV):c.726C>A (p.Ser242Arg)	SNV Germline	Chr16:3254342	Pathogenic/Likely pathogenic	Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Neuronal ceroid lipofuscinosis	Criteria Provided Multiple Submitters No Conflicts	CA280647	rs_104895127	4 SubmittersRCV000083792 RCV001804836 RCV005016370 RCV004542801
NM_000243.3(MEFV):c.726C>G (p.Ser242Arg)	SNV Germline	Chr16:3254342	Conflicting classifications of pathogenicity	Familial Mediterranean fever Condition: not provided Acute febrile neutrophilic dermatosis Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant	Criteria Provided Conflicting Classifications	CA280650	rs_104895127	6 SubmittersRCV000083793 RCV001172095 RCV001174523 RCV005016371
NM_000243.3(MEFV):c.751G>A (p.Glu251Lys)	SNV Germline	Chr16:3254317	Conflicting classifications of pathogenicity	Familial Mediterranean fever Condition: not provided Familial Mediterranean fever, autosomal dominant Autoinflammatory syndrome Acute febrile neutrophilic dermatosis	Criteria Provided Conflicting Classifications	CA280654	rs_104895111	6 SubmittersRCV000083795 RCV001701743 RCV003126483 RCV002262653 RCV003126484
NM_000243.3(MEFV):c.775A>G (p.Ile259Val)	SNV Germline	Chr16:3254293	Conflicting classifications of pathogenicity	Familial Mediterranean fever Condition: not provided Autoinflammatory syndrome Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis MEFV-related disorder	Criteria Provided Conflicting Classifications	CA280658	rs_104895144	11 SubmittersRCV000083797 RCV000587366 RCV002262654 RCV003126486 RCV003126485 RCV002505014 RCV004529876
NM_000243.3(MEFV):c.803C>T (p.Ala268Val)	SNV Germline	Chr16:3254265	Conflicting classifications of pathogenicity	Familial Mediterranean fever Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis	Criteria Provided Conflicting Classifications	CA280661	rs_104895123	6 SubmittersRCV000083798 RCV003126488 RCV003126487 RCV002498443
NM_000243.3(MEFV):c.848C>G (p.Pro283Arg)	SNV Germline	Chr16:3254220	Conflicting classifications of pathogenicity	Familial Mediterranean fever Condition: not provided Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant	Criteria Provided Conflicting Classifications	CA280667	rs_104895119	7 SubmittersRCV000083800 RCV000221070 RCV000765291 RCV003126490 RCV003126489
NM_000243.3(MEFV):c.848C>T (p.Pro283Leu)	SNV Germline	Chr16:3254220	Conflicting classifications of pathogenicity	Familial Mediterranean fever Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant	Criteria Provided Conflicting Classifications	CA280670	rs_104895119	4 SubmittersRCV000083801 RCV003126492 RCV002505015 RCV003126491
NM_000243.3(MEFV):c.866C>T (p.Ala289Val)	SNV Germline	Chr16:3254202	Conflicting classifications of pathogenicity	Familial Mediterranean fever Condition: not provided Autoinflammatory syndrome not specified Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant	Criteria Provided Conflicting Classifications	CA280673	rs_104895132	11 SubmittersRCV000083802 RCV000594000 RCV002262656 RCV003114248 RCV003126494 RCV003126493 RCV002483165
NM_000243.3(MEFV):c.955G>A (p.Glu319Lys)	SNV Germline	Chr16:3249736	Conflicting classifications of pathogenicity	Familial Mediterranean fever Condition: not provided Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant	Criteria Provided Conflicting Classifications	CA280684	rs_104895110	7 SubmittersRCV000083807 RCV001701500 RCV003126496 RCV003126495
NM_000243.3(MEFV):c.986G>A (p.Arg329His)	SNV Germline	Chr16:3249705	Conflicting classifications of pathogenicity	Familial Mediterranean fever Condition: not provided Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Autoinflammatory syndrome not specified Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant	Criteria Provided Conflicting Classifications	CA280689	rs_104895112	17 SubmittersRCV000083809 RCV000585083 RCV001280973 RCV002262658 RCV000855598 RCV003224144
NM_000243.3(MEFV):c.1082G>C (p.Arg361Thr)	SNV Germline/somatic	Chr16:3249609	Conflicting classifications of pathogenicity	Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis	Criteria Provided Conflicting Classifications	CA280896	rs_190405488	5 SubmittersRCV000148029 RCV003126540 RCV003126541 RCV002498677
NM_000243.3(MEFV):c.369C>A (p.His123Gln)	SNV Germline/somatic	Chr16:3254699	Conflicting classifications of pathogenicity	Familial Mediterranean fever Condition: not provided Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA280902	rs_587783379	5 SubmittersRCV000148289 RCV000589662 RCV003126543 RCV003126542 RCV002515994
NM_000243.3(MEFV):c.2146A>G (p.Lys716Glu)	SNV Germline	Chr16:3243341	Conflicting classifications of pathogenicity	Condition: not provided Familial Mediterranean fever not specified Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant	Criteria Provided Conflicting Classifications	CA7859868	rs_746092199	5 SubmittersRCV000218313 RCV000795673 RCV001328382 RCV003126632 RCV003126631
NM_000243.3(MEFV):c.2141C>T (p.Pro714Leu)	SNV Germline	Chr16:3243346	Conflicting classifications of pathogenicity	Condition: not provided Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant	Criteria Provided Conflicting Classifications	CA7859869	rs_758628487	3 SubmittersRCV000219567 RCV002500741 RCV003126641 RCV003126639 RCV003126640
NM_000243.3(MEFV):c.1759+1G>A	SNV Germline	Chr16:3244253	Conflicting classifications of pathogenicity	Condition: not provided Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Familial Mediterranean fever	Criteria Provided Conflicting Classifications	CA10577518	rs_876660996	4 SubmittersRCV000223214 RCV005016610 RCV005090135
NM_000243.3(MEFV):c.1337A>C (p.Glu446Ala)	SNV Germline	Chr16:3248928	Conflicting classifications of pathogenicity	Condition: not provided Familial Mediterranean fever Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Autoinflammatory syndrome Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant	Criteria Provided Conflicting Classifications	CA7860180	rs_749651486	6 SubmittersRCV000219419 RCV000632789 RCV002478821 RCV002262826 RCV003126638 RCV003126637
NM_000243.3(MEFV):c.959G>C (p.Gly320Ala)	SNV Germline	Chr16:3249732	Conflicting classifications of pathogenicity	Condition: not provided Familial Mediterranean fever Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis	Criteria Provided Conflicting Classifications	CA7860264	rs_374412819	5 SubmittersRCV000217797 RCV001349028 RCV002485438 RCV003126627 RCV003126628
NM_000243.3(MEFV):c.1066C>G (p.Gln356Glu)	SNV Germline	Chr16:3249625	Conflicting classifications of pathogenicity	Condition: not provided Familial Mediterranean fever Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant	Criteria Provided Conflicting Classifications	CA7860240	rs_377754606	4 SubmittersRCV000214481 RCV001833230 RCV003126636 RCV002478820 RCV003126635
NM_000243.3(MEFV):c.547C>A (p.Pro183Thr)	SNV Germline	Chr16:3254521	Conflicting classifications of pathogenicity	Condition: not provided Familial Mediterranean fever Autoinflammatory syndrome Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis	Criteria Provided Conflicting Classifications	CA7860401	rs_202196752	7 SubmittersRCV000213498 RCV001247010 RCV002262822 RCV002500739 RCV003126625 RCV003126626
NM_000243.3(MEFV):c.511G>A (p.Ala171Thr)	SNV Germline	Chr16:3254557	Conflicting classifications of pathogenicity	Condition: not provided Familial Mediterranean fever Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant	Criteria Provided Conflicting Classifications	CA10577522	rs_876660993	4 SubmittersRCV000216945 RCV001371018 RCV003126624 RCV003126623
NM_000243.3(MEFV):c.460T>C (p.Ser154Pro)	SNV Germline	Chr16:3254608	Conflicting classifications of pathogenicity	Condition: not provided Familial Mediterranean fever not specified Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis	Criteria Provided Conflicting Classifications	CA7860420	rs_756975501	9 SubmittersRCV000218924 RCV000695122 RCV001193204 RCV001731531 RCV002494603 RCV003126622
NM_000243.3(MEFV):c.439C>G (p.Pro147Ala)	SNV Germline	Chr16:3254629	Conflicting classifications of pathogenicity	Condition: not provided Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant	Criteria Provided Conflicting Classifications	CA10577524	rs_876660991	3 SubmittersRCV000215134 RCV003126621 RCV002478819 RCV003126619 RCV003126620
NM_000243.3(MEFV):c.436C>T (p.Gln146Ter)	SNV Germline	Chr16:3254632	Conflicting classifications of pathogenicity	Condition: not provided not specified Familial Mediterranean fever Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant	Criteria Provided Conflicting Classifications	CA10577525	rs_876660990	4 SubmittersRCV000222115 RCV000781527 RCV000818575 RCV003126618 RCV003126617
NM_000243.3(MEFV):c.407G>A (p.Gly136Glu)	SNV Germline	Chr16:3254661	Conflicting classifications of pathogenicity	Condition: not provided Familial Mediterranean fever Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis	Criteria Provided Conflicting Classifications	CA10577526	rs_876660989	5 SubmittersRCV000218405 RCV000688336 RCV003126616 RCV003126615 RCV005396731
NM_000243.3(MEFV):c.233A>G (p.Asn78Ser)	SNV Germline	Chr16:3256355	Conflicting classifications of pathogenicity	Condition: not provided Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis	Criteria Provided Conflicting Classifications	CA7860501	rs_145015653	5 SubmittersRCV000215498 RCV001121438 RCV003126633 RCV003126634
NM_000243.3(MEFV):c.611G>A (p.Arg204His)	SNV Germline	Chr16:3254457	Conflicting classifications of pathogenicity	Familial Mediterranean fever not specified Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Condition: not provided	Criteria Provided Conflicting Classifications	CA7860378	rs_775663363	6 SubmittersRCV000491523 RCV001804980 RCV003126649 RCV003126650 RCV003480573
NM_000243.3(MEFV):c.250G>C (p.Glu84Gln)	SNV Germline	Chr16:3256338	Conflicting classifications of pathogenicity	Familial Mediterranean fever Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant	Criteria Provided Conflicting Classifications	CA7860492	rs_150819742	3 SubmittersRCV002041254 RCV002486745 RCV003126098 RCV003126097
NM_000243.3(MEFV):c.1341G>C (p.Lys447Asn)	SNV Germline	Chr16:3248924	Conflicting classifications of pathogenicity	Condition: not provided Familial Mediterranean fever not specified Acute febrile neutrophilic dermatosis Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Familial Mediterranean fever, autosomal dominant	Criteria Provided Conflicting Classifications	CA7860178	rs_756322372	9 SubmittersRCV000398473 RCV001044845 RCV001264418 RCV003126660 RCV002487174 RCV003126659
NM_000243.3(MEFV):c.1957C>T (p.Arg653Cys)	SNV Germline	Chr16:3243530	Conflicting classifications of pathogenicity	Condition: not provided Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant	Criteria Provided Conflicting Classifications	CA7859890	rs_375716505	5 SubmittersRCV000587289 RCV003126665 RCV001276186 RCV003126664
NM_000243.3(MEFV):c.1513G>T (p.Asp505Tyr)	SNV Germline	Chr16:3247090	Conflicting classifications of pathogenicity	Familial Mediterranean fever Condition: not provided Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis	Criteria Provided Conflicting Classifications	CA10637690	rs_150730718	6 SubmittersRCV000336445 RCV001358002 RCV003126668 RCV002487407 RCV003126669
NM_000243.3(MEFV):c.1406T>C (p.Val469Ala)	SNV Germline	Chr16:3247197	Conflicting classifications of pathogenicity	Familial Mediterranean fever Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Familial Mediterranean fever, autosomal dominant Autoinflammatory syndrome not specified Acute febrile neutrophilic dermatosis	Criteria Provided Conflicting Classifications	CA7860134	rs_778686119	7 SubmittersRCV000336657 RCV002487408 RCV003126670 RCV002263010 RCV002468940 RCV003126671
NM_000243.3(MEFV):c.289C>T (p.Gln97Ter)	SNV Germline	Chr16:3254779	Conflicting classifications of pathogenicity	Familial Mediterranean fever Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant Condition: not provided	Criteria Provided Conflicting Classifications	CA7860464	rs_747515115	4 SubmittersRCV000293866 RCV002480142 RCV003126673 RCV003126672 RCV002522844
NM_000243.3(MEFV):c.277G>C (p.Glu93Gln)	SNV Germline	Chr16:3256311	Conflicting classifications of pathogenicity	Familial Mediterranean fever Condition: not provided Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant	Criteria Provided Conflicting Classifications	CA7860489	rs_138498376	6 SubmittersRCV000348765 RCV001812836 RCV003126675 RCV003126674
NM_000243.3(MEFV):c.1099C>G (p.Leu367Val)	SNV Germline	Chr16:3249592	Conflicting classifications of pathogenicity	Behcet disease Familial Mediterranean fever Condition: not provided not specified Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant	Criteria Provided Conflicting Classifications	CA16044017	rs_1057519328	6 SubmittersRCV000416346 RCV002521488 RCV003133255 RCV001805036 RCV002480275 RCV003126719 RCV003126718
NM_000243.3(MEFV):c.2292G>T (p.Gly764=)	SNV Germline	Chr16:3243195	Conflicting classifications of pathogenicity	Condition: not provided Autoinflammatory syndrome not specified Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant Familial Mediterranean fever Familial Mediterranean fever MEFV-related disorder	Criteria Provided Conflicting Classifications	CA7859840	rs_142352887	11 SubmittersRCV000429125 RCV002263677 RCV001000190 RCV005018721 RCV000989470 RCV004739719
NM_000243.3(MEFV):c.489G>T (p.Glu163Asp)	SNV Germline	Chr16:3254579	Conflicting classifications of pathogenicity	Condition: not provided Familial Mediterranean fever Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis	Criteria Provided Conflicting Classifications	CA7860418	rs_759997694	5 SubmittersRCV000432274 RCV001835805 RCV003126739 RCV003126738 RCV002506080
NM_000243.3(MEFV):c.1759+11C>T	SNV Germline	Chr16:3244243	Conflicting classifications of pathogenicity	not specified Familial Mediterranean fever Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis	Criteria Provided Conflicting Classifications	CA7860003	rs_370349451	4 SubmittersRCV000506579 RCV002056907 RCV002506235 RCV003126782 RCV003126783
NM_000243.3(MEFV):c.1356+31G>T	SNV Germline	Chr16:3248878	Conflicting classifications of pathogenicity	Condition: not provided Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant	Criteria Provided Conflicting Classifications	CA7860166	rs_142775938	3 SubmittersRCV001584224 RCV003126777 RCV003126775 RCV003126776
NM_000243.3(MEFV):c.1610+8G>A	SNV Germline	Chr16:3246517	Conflicting classifications of pathogenicity	Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Familial Mediterranean fever Condition: not provided Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis not specified MEFV-related disorder	Criteria Provided Conflicting Classifications	CA7860071	rs_765410591	6 SubmittersRCV003126778 RCV003126779 RCV001429606 RCV001810995 RCV002496968 RCV005056099 RCV004541587
NM_000243.3(MEFV):c.786T>C (p.Thr262=)	SNV Germline	Chr16:3254282	Conflicting classifications of pathogenicity	Condition: not provided Familial Mediterranean fever, autosomal dominant Familial Mediterranean fever Acute febrile neutrophilic dermatosis	Criteria Provided Conflicting Classifications	CA7860330	rs_575521131	4 SubmittersRCV000505968 RCV003126780 RCV001410018 RCV003126781
NM_000243.3(MEFV):c.289C>A (p.Gln97Lys)	SNV Germline	Chr16:3254779	Conflicting classifications of pathogenicity	Acute febrile neutrophilic dermatosis Condition: not provided Autoinflammatory syndrome Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis	Criteria Provided Conflicting Classifications	CA7860463	rs_747515115	6 SubmittersRCV003126787 RCV000514677 RCV002263722 RCV000632795 RCV003126786 RCV005018873
NM_000243.3(MEFV):c.1171G>A (p.Asp391Asn)	SNV Germline	Chr16:3249520	Conflicting classifications of pathogenicity	Condition: not provided Familial Mediterranean fever Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant	Criteria Provided Conflicting Classifications	CA7860224	rs_764274816	7 SubmittersRCV000520467 RCV001209535 RCV002506272 RCV003126794 RCV003126793
NM_000243.3(MEFV):c.532C>T (p.Arg178Trp)	SNV Germline	Chr16:3254536	Conflicting classifications of pathogenicity	Condition: not provided Familial Mediterranean fever Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis	Criteria Provided Conflicting Classifications	CA394480937	rs_1555459404	4 SubmittersRCV000520666 RCV001834689 RCV002497019 RCV003126791 RCV003126792
NM_000243.3(MEFV):c.1222C>T (p.Arg408Trp)	SNV Germline	Chr16:3249469	Conflicting classifications of pathogenicity	Familial Mediterranean fever Autoinflammatory syndrome Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis	Criteria Provided Conflicting Classifications	CA7860213	rs_758868622	5 SubmittersRCV000540246 RCV002263736 RCV003126798 RCV003126797 RCV002506300
NM_000243.3(MEFV):c.2163C>T (p.Phe721=)	SNV Germline	Chr16:3243324	Conflicting classifications of pathogenicity	Condition: not provided Familial Mediterranean fever Autoinflammatory syndrome Familial Mediterranean fever, autosomal dominant Inborn genetic diseases Acute febrile neutrophilic dermatosis	Criteria Provided Conflicting Classifications	CA7859863	rs_11466047	8 SubmittersRCV000588308 RCV001083427 RCV002263740 RCV003126805 RCV002431547 RCV003126806
NM_000243.3(MEFV):c.1898C>T (p.Pro633Leu)	SNV Germline	Chr16:3243589	Conflicting classifications of pathogenicity	Familial Mediterranean fever Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant	Criteria Provided Conflicting Classifications	CA276955244	rs_976279218	4 SubmittersRCV000534641 RCV002490969 RCV003126804 RCV003126803
NM_000243.3(MEFV):c.1508C>G (p.Ser503Cys)	SNV Germline	Chr16:3247095	Conflicting classifications of pathogenicity	Familial Mediterranean fever Condition: not provided Autoinflammatory syndrome Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant	Criteria Provided Conflicting Classifications	CA7860112	rs_190705322	9 SubmittersRCV000530643 RCV001775848 RCV002263738 RCV002490968 RCV003126802 RCV003126801
NM_000243.3(MEFV):c.1223G>T (p.Arg408Leu)	SNV Germline	Chr16:3249468	Conflicting classifications of pathogenicity	Familial Mediterranean fever Autoinflammatory syndrome Condition: not provided Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis	Criteria Provided Conflicting Classifications	CA394469353	rs_11466024	7 SubmittersRCV000532782 RCV002263737 RCV001591200 RCV003126800 RCV003126799 RCV002483374
NM_000243.3(MEFV):c.2271C>T (p.Ser757=)	SNV Germline	Chr16:3243216	Conflicting classifications of pathogenicity	not specified Familial Mediterranean fever Condition: not provided Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis MEFV-related disorder Familial Mediterranean fever, autosomal dominant	Criteria Provided Conflicting Classifications	CA7859844	rs_772754956	6 SubmittersRCV000589667 RCV000939022 RCV001811088 RCV003126835 RCV002483565 RCV004530641 RCV003126834
NM_000243.3(MEFV):c.1061G>A (p.Arg354Gln)	SNV Germline	Chr16:3249630	Conflicting classifications of pathogenicity	Condition: not provided Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Autoinflammatory syndrome Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Acute febrile neutrophilic dermatosis	Criteria Provided Conflicting Classifications	CA7860243	rs_763015849	7 SubmittersRCV000588244 RCV000632792 RCV001276301 RCV002263819 RCV002476271 RCV003126829
NM_000243.3(MEFV):c.1622T>C (p.Val541Ala)	SNV Germline	Chr16:3244577	Conflicting classifications of pathogenicity	Condition: not provided Familial Mediterranean fever Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis	Criteria Provided Conflicting Classifications	CA276896167	rs_922232615	4 SubmittersRCV000587448 RCV001829616 RCV003126833 RCV003126832 RCV002476273
NM_000243.3(MEFV):c.116G>A (p.Arg39Lys)	SNV Germline	Chr16:3256472	Conflicting classifications of pathogenicity	Condition: not provided Familial Mediterranean fever Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis	Criteria Provided Conflicting Classifications	CA7860532	rs_141288548	5 SubmittersRCV000586069 RCV001045327 RCV002476272 RCV003126830 RCV003126831
NM_000243.3(MEFV):c.277+6C>T	SNV Germline	Chr16:3256305	Conflicting classifications of pathogenicity	not specified Familial Mediterranean fever Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Condition: not provided MEFV-related disorder	Criteria Provided Conflicting Classifications	CA7860488	rs_7199464	6 SubmittersRCV000606307 RCV000892020 RCV001280971 RCV003224349 RCV003736853 RCV004544786
NM_000243.3(MEFV):c.1092G>A (p.Pro364=)	SNV Germline	Chr16:3249599	Conflicting classifications of pathogenicity	Condition: not provided Familial Mediterranean fever Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant	Criteria Provided Conflicting Classifications	CA7860235	rs_11466022	6 SubmittersRCV000756332 RCV001083401 RCV002499046 RCV003126886 RCV003126885
NM_000243.3(MEFV):c.1504G>A (p.Val502Ile)	SNV Germline	Chr16:3247099	Conflicting classifications of pathogenicity	Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Familial Mediterranean fever Acute febrile neutrophilic dermatosis Condition: not provided	Criteria Provided Conflicting Classifications	CA7860114	rs_140462252	5 SubmittersRCV000632788 RCV003126879 RCV002507067 RCV003126880 RCV005231203
NM_000243.3(MEFV):c.1780C>T (p.Gln594Ter)	SNV Germline	Chr16:3243872	Conflicting classifications of pathogenicity	Familial Mediterranean fever Condition: not provided Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis	Criteria Provided Conflicting Classifications	CA7859928	rs_780770024	4 SubmittersRCV000632791 RCV001815355 RCV003126882 RCV003126881 RCV002492960
NM_000243.3(MEFV):c.539C>T (p.Pro180Leu)	SNV Germline	Chr16:3254529	Conflicting classifications of pathogenicity	Familial Mediterranean fever Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant not specified	Criteria Provided Conflicting Classifications	CA276902697	rs_104895134	4 SubmittersRCV000632793 RCV003126884 RCV003126883 RCV002469226
NM_000243.3(MEFV):c.311C>G (p.Ser104Cys)	SNV Germline	Chr16:3254757	Conflicting classifications of pathogenicity	Familial Mediterranean fever Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant	Criteria Provided Conflicting Classifications	CA7860459	rs_151306047	4 SubmittersRCV000701319 RCV002493230 RCV003126914 RCV003126913
NM_000243.3(MEFV):c.331G>A (p.Gly111Arg)	SNV Germline	Chr16:3254737	Conflicting classifications of pathogenicity	Condition: not provided Familial Mediterranean fever Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant MEFV-related disorder Acute febrile neutrophilic dermatosis	Criteria Provided Conflicting Classifications	CA276903197	rs_112739451	6 SubmittersRCV000756333 RCV001201760 RCV002477737 RCV003126925 RCV004535889 RCV003126926
NM_000243.3(MEFV):c.250G>A (p.Glu84Lys)	SNV Germline	Chr16:3256338	Conflicting classifications of pathogenicity	Familial Mediterranean fever not specified Familial Mediterranean fever, autosomal dominant Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis	Criteria Provided Conflicting Classifications	CA7860493	rs_150819742	6 SubmittersRCV000779184 RCV001002344 RCV003465710 RCV005021164
NM_000243.3(MEFV):c.1643C>A (p.Thr548Asn)	SNV Germline	Chr16:3244556	Conflicting classifications of pathogenicity	not specified Autoinflammatory syndrome Familial Mediterranean fever Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant Condition: not provided	Criteria Provided Conflicting Classifications	CA394458854	rs_550970304	6 SubmittersRCV000781531 RCV002263975 RCV000792803 RCV003126935 RCV003126934 RCV001555989
NM_000243.3(MEFV):c.1368A>C (p.Glu456Asp)	SNV Germline	Chr16:3247235	Conflicting classifications of pathogenicity	not specified Familial Mediterranean fever Autoinflammatory syndrome Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis	Criteria Provided Conflicting Classifications	CA394465166	rs_1567233429	4 SubmittersRCV000780408 RCV001825528 RCV002263973 RCV003126928 RCV003126929
NM_000243.3(MEFV):c.564C>G (p.Pro188=)	SNV Germline	Chr16:3254504	Conflicting classifications of pathogenicity	Familial Mediterranean fever not specified Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant	Criteria Provided Conflicting Classifications	CA7860397	rs_775755423	3 SubmittersRCV001501166 RCV000781526 RCV003126933 RCV003126932
NM_000243.3(MEFV):c.239G>A (p.Arg80His)	SNV Germline	Chr16:3256349	Conflicting classifications of pathogenicity	not specified Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant Familial Mediterranean fever Condition: not provided	Criteria Provided Conflicting Classifications	CA7860497	rs_201075710	7 SubmittersRCV000781524 RCV002487611 RCV003126931 RCV003126930 RCV001273730 RCV001561342
NM_000243.3(MEFV):c.2123G>A (p.Arg708His)	SNV Germline	Chr16:3243364	Conflicting classifications of pathogenicity	Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Acute febrile neutrophilic dermatosis not specified	Criteria Provided Conflicting Classifications	CA276955088	rs_200375017	5 SubmittersRCV000804253 RCV001274311 RCV002487716 RCV003127470 RCV003479222
NM_000243.3(MEFV):c.1735C>T (p.Arg579Cys)	SNV Germline	Chr16:3244278	Conflicting classifications of pathogenicity	Familial Mediterranean fever Autoinflammatory syndrome Condition: not provided Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant	Criteria Provided Conflicting Classifications	CA7860009	rs_762605919	5 SubmittersRCV000795051 RCV002263985 RCV001776003 RCV003126938 RCV003126937
NM_000243.3(MEFV):c.1532C>T (p.Ala511Val)	SNV Germline	Chr16:3247071	Conflicting classifications of pathogenicity	Familial Mediterranean fever not specified Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant	Criteria Provided Conflicting Classifications	CA7860107	rs_144270019	6 SubmittersRCV000801307 RCV001193207 RCV002501072 RCV003126940 RCV003126939
NM_000243.3(MEFV):c.1151T>C (p.Leu384Pro)	SNV Germline	Chr16:3249540	Conflicting classifications of pathogenicity	Familial Mediterranean fever Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis	Criteria Provided Conflicting Classifications	CA7860226	rs_139313647	5 SubmittersRCV000820957 RCV001281042 RCV002487836 RCV003127476 RCV003127477
NM_000243.3(MEFV):c.586G>C (p.Gly196Arg)	SNV Germline	Chr16:3254482	Conflicting classifications of pathogenicity	Familial Mediterranean fever Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant	Criteria Provided Conflicting Classifications	CA7860388	rs_104895179	4 SubmittersRCV000807223 RCV002487732 RCV003127472 RCV003127471
NM_000243.3(MEFV):c.536G>A (p.Ser179Asn)	SNV Germline	Chr16:3254532	Conflicting classifications of pathogenicity	Familial Mediterranean fever Condition: not provided Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis	Criteria Provided Conflicting Classifications	CA7860402	rs_104895125	10 SubmittersRCV000823143 RCV001507334 RCV003127478 RCV003127479 RCV005012379
NM_000243.3(MEFV):c.1770G>A (p.Leu590=)	SNV Germline	Chr16:3243882	Conflicting classifications of pathogenicity	Condition: not provided Familial Mediterranean fever Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant	Criteria Provided Conflicting Classifications	CA7859932	rs_139692347	3 SubmittersRCV000828867 RCV001471489 RCV003127484 RCV003127483
NM_000243.3(MEFV):c.414A>T (p.Gly138=)	SNV Germline	Chr16:3254654	Conflicting classifications of pathogenicity	Condition: not provided Familial Mediterranean fever Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Acute febrile neutrophilic dermatosis Inborn genetic diseases Familial Mediterranean fever, autosomal dominant	Criteria Provided Conflicting Classifications	CA7860432	rs_224224	6 SubmittersRCV000829179 RCV001088841 RCV002501163 RCV003127486 RCV004029209 RCV003127485
NM_000243.3(MEFV):c.48G>A (p.Leu16=)	SNV Germline	Chr16:3256540	Conflicting classifications of pathogenicity	Familial Mediterranean fever Condition: not provided Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Inborn genetic diseases Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant	Criteria Provided Conflicting Classifications	CA7860548	rs_777381107	6 SubmittersRCV000914758 RCV001655645 RCV002505350 RCV003307683 RCV003127546 RCV003127545
NM_000243.3(MEFV):c.1344A>C (p.Ala448=)	SNV Germline	Chr16:3248921	Conflicting classifications of pathogenicity	Familial Mediterranean fever Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis not specified	Criteria Provided Conflicting Classifications	CA7860177	rs_143337771	5 SubmittersRCV000939111 RCV003127550 RCV003127549 RCV002489258 RCV005236461
NM_000243.3(MEFV):c.456G>A (p.Gly152=)	SNV Germline	Chr16:3254612	Conflicting classifications of pathogenicity	Familial Mediterranean fever Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis	Criteria Provided Conflicting Classifications	CA7860422	rs_368333568	4 SubmittersRCV001417548 RCV002502861 RCV003127547 RCV003127548
NM_000243.3(MEFV):c.416C>A (p.Ala139Asp)	SNV Germline	Chr16:3254652	Conflicting classifications of pathogenicity	Familial Mediterranean fever not specified Condition: not provided Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant	Criteria Provided Conflicting Classifications	CA7860430	rs_575678784	5 SubmittersRCV000932960 RCV002307644 RCV005231975 RCV002505387
NM_000243.3(MEFV):c.231C>A (p.Ile77=)	SNV Germline	Chr16:3256357	Conflicting classifications of pathogenicity	Familial Mediterranean fever Condition: not provided Acute febrile neutrophilic dermatosis MEFV-related disorder Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant Inborn genetic diseases not specified	Criteria Provided Conflicting Classifications	CA7860502	rs_139899201	7 SubmittersRCV000939112 RCV001655646 RCV003127552 RCV004543517 RCV002502875 RCV003127551 RCV005589924 RCV005236462
NM_000243.3(MEFV):c.1899G>A (p.Pro633=)	SNV Germline	Chr16:3243588	Conflicting classifications of pathogenicity	Familial Mediterranean fever Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis	Criteria Provided Conflicting Classifications	CA7859900	rs_776315170	4 SubmittersRCV000977151 RCV002503116 RCV003127559 RCV003127560
NM_000243.3(MEFV):c.2150G>T (p.Arg717Leu)	SNV Germline	Chr16:3243337	Conflicting classifications of pathogenicity	Familial Mediterranean fever not specified Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis	Criteria Provided Conflicting Classifications	CA7859866	rs_545517350	6 SubmittersRCV000989472 RCV001002516 RCV002479155 RCV003127563 RCV003127564
NM_000243.3(MEFV):c.2150G>A (p.Arg717His)	SNV Germline	Chr16:3243337	Conflicting classifications of pathogenicity	Familial Mediterranean fever Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant	Criteria Provided Conflicting Classifications	CA276955068	rs_545517350	4 SubmittersRCV000989473 RCV002488080 RCV003127566 RCV003127565
NM_000243.3(MEFV):c.1895G>C (p.Gly632Ala)	SNV Germline	Chr16:3243592	Conflicting classifications of pathogenicity	Familial Mediterranean fever Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant	Criteria Provided Conflicting Classifications	CA276955246	rs_967990798	3 SubmittersRCV000989476 RCV003127568 RCV003127567
NM_000243.3(MEFV):c.1889C>T (p.Pro630Leu)	SNV Germline	Chr16:3243598	Conflicting classifications of pathogenicity	Familial Mediterranean fever Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant	Criteria Provided Conflicting Classifications	CA7859901	rs_376579860	6 SubmittersRCV000989477 RCV003127570 RCV003127569 RCV002489460
NM_000243.3(MEFV):c.1773T>G (p.Ile591Met)	SNV Germline	Chr16:3243879	Conflicting classifications of pathogenicity	Familial Mediterranean fever Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant	Criteria Provided Conflicting Classifications	CA7859930	rs_141706767	5 SubmittersRCV000989480 RCV003127572 RCV003127571
NM_000243.3(MEFV):c.1996A>T (p.Ile666Phe)	SNV Germline	Chr16:3243491	Conflicting classifications of pathogenicity	not specified Familial Mediterranean fever Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis	Criteria Provided Conflicting Classifications	CA7859885	rs_387907566	5 SubmittersRCV001002108 RCV001827156 RCV002481799 RCV003127580 RCV003127581
NM_000243.3(MEFV):c.490A>C (p.Lys164Gln)	SNV Germline	Chr16:3254578	Conflicting classifications of pathogenicity	not specified Familial Mediterranean fever Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant	Criteria Provided Conflicting Classifications	CA394481205	rs_1306636942	4 SubmittersRCV001002490 RCV001218918 RCV002505532 RCV003127583 RCV003127582
NM_000243.3(MEFV):c.2111T>G (p.Val704Gly)	SNV Germline	Chr16:3243376	Conflicting classifications of pathogenicity	Familial Mediterranean fever Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis	Criteria Provided Conflicting Classifications	CA7859873	rs_748891586	4 SubmittersRCV001048846 RCV002479296 RCV003127602 RCV003127603
NM_000243.3(MEFV):c.2065T>C (p.Trp689Arg)	SNV Germline	Chr16:3243422	Conflicting classifications of pathogenicity	Familial Mediterranean fever Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant	Criteria Provided Conflicting Classifications	CA7859880	rs_566082564	4 SubmittersRCV001065311 RCV002482093 RCV003127615 RCV003127614
NM_000243.3(MEFV):c.1681C>T (p.His561Tyr)	SNV Germline	Chr16:3244518	Conflicting classifications of pathogenicity	Familial Mediterranean fever Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA276896126	rs_952604863	5 SubmittersRCV001071930 RCV002489718 RCV003127622 RCV003127623 RCV004950257
NM_000243.3(MEFV):c.1522C>G (p.Leu508Val)	SNV Germline	Chr16:3247081	Conflicting classifications of pathogenicity	Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Condition: not provided Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Acute febrile neutrophilic dermatosis	Criteria Provided Conflicting Classifications	CA7860111	rs_199937453	5 SubmittersRCV001066615 RCV001274313 RCV001811638 RCV005021410 RCV003127618
NM_000243.3(MEFV):c.973G>A (p.Gly325Ser)	SNV Germline	Chr16:3249718	Conflicting classifications of pathogenicity	Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis	Criteria Provided Conflicting Classifications	CA7860258	rs_146862274	4 SubmittersRCV001058593 RCV003127609 RCV002505619 RCV003127610
NM_000243.3(MEFV):c.828A>C (p.Glu276Asp)	SNV Germline	Chr16:3254240	Conflicting classifications of pathogenicity	Familial Mediterranean fever Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis	Criteria Provided Conflicting Classifications	CA7860319	rs_775020273	4 SubmittersRCV001052237 RCV002505600 RCV003127605 RCV003127606
NM_000243.3(MEFV):c.548C>T (p.Pro183Leu)	SNV Germline	Chr16:3254520	Conflicting classifications of pathogenicity	Familial Mediterranean fever Inborn genetic diseases Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant	Criteria Provided Conflicting Classifications	CA7860399	rs_777009752	6 SubmittersRCV001054872 RCV002348409 RCV002497422 RCV003127608 RCV003127607
NM_000243.3(MEFV):c.405C>G (p.Tyr135Ter)	SNV Germline	Chr16:3254663	Conflicting classifications of pathogenicity	Familial Mediterranean fever Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis	Criteria Provided Conflicting Classifications	CA7860439	rs_766323718	3 SubmittersRCV001065276 RCV002505642 RCV003127612 RCV003127613
NM_000243.3(MEFV):c.808A>G (p.Asn270Asp)	SNV Germline	Chr16:3254260	Conflicting classifications of pathogenicity	Condition: not provided Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Familial Mediterranean fever	Criteria Provided Conflicting Classifications	CA7860322	rs_753623518	3 SubmittersRCV001090251 RCV002489726 RCV003127626 RCV003127627 RCV003127625
NM_000243.3(MEFV):c.2068G>C (p.Val690Leu)	SNV Germline	Chr16:3243419	Conflicting classifications of pathogenicity	Familial Mediterranean fever Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant Familial Mediterranean fever Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant	Criteria Provided Conflicting Classifications	CA394486275	rs_1281153557	3 SubmittersRCV001121251 RCV003127636 RCV002491374 RCV003127635
NM_000243.3(MEFV):c.1758T>C (p.Asn586=)	SNV Germline	Chr16:3244255	Conflicting classifications of pathogenicity	Familial Mediterranean fever Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7860006	rs_202228332	6 SubmittersRCV001116331 RCV003127634 RCV003127633 RCV004950295
NM_000243.3(MEFV):c.1105C>A (p.Pro369Thr)	SNV Germline	Chr16:3249586	Conflicting classifications of pathogenicity	Familial Mediterranean fever not specified Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant Familial Mediterranean fever, autosomal dominant Familial Mediterranean fever Acute febrile neutrophilic dermatosis	Criteria Provided Conflicting Classifications	CA7860232	rs_11466023	6 SubmittersRCV001121353 RCV001174702 RCV003127638 RCV003127637 RCV002482225
NM_000243.3(MEFV):c.730G>A (p.Glu244Lys)	SNV Germline	Chr16:3254338	Pathogenic	Acute febrile neutrophilic dermatosis	No Assertion Criteria Provided	CA394478061	rs_1959081392	1 SubmittersRCV001174525
NM_000243.3(MEFV):c.1501C>T (p.Arg501Cys)	SNV Germline	Chr16:3247102	Conflicting classifications of pathogenicity	not specified Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Familial Mediterranean fever Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant Familial Mediterranean fever	Criteria Provided Conflicting Classifications	CA7860115	rs_104895101	4 SubmittersRCV001175537 RCV002505757 RCV003127674 RCV003127673 RCV001833735
NM_000243.3(MEFV):c.1324T>A (p.Ser442Thr)	SNV Germline	Chr16:3248941	Conflicting classifications of pathogenicity	Familial Mediterranean fever Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis	Criteria Provided Conflicting Classifications	CA7860182	rs_779558690	4 SubmittersRCV001216264 RCV003127691 RCV003127690 RCV002480711
NM_000243.3(MEFV):c.574A>G (p.Arg192Gly)	SNV Germline	Chr16:3254494	Conflicting classifications of pathogenicity	Familial Mediterranean fever Condition: not provided Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant	Criteria Provided Conflicting Classifications	CA7860393	rs_745839954	4 SubmittersRCV001207798 RCV001812251 RCV003127683 RCV003127682
NM_000243.3(MEFV):c.1528G>A (p.Asp510Asn)	SNV Germline	Chr16:3247075	Conflicting classifications of pathogenicity	Familial Mediterranean fever Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant	Criteria Provided Conflicting Classifications	CA7860109	rs_200557537	7 SubmittersRCV001228467 RCV002504301 RCV003127706 RCV003127705
NM_000243.3(MEFV):c.566G>T (p.Gly189Val)	SNV Germline	Chr16:3254502	Conflicting classifications of pathogenicity	Familial Mediterranean fever Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant not specified	Criteria Provided Conflicting Classifications	CA276902622	rs_923516953	4 SubmittersRCV001225884 RCV002497768 RCV003127700 RCV003127699 RCV004699215
NM_000243.3(MEFV):c.2117C>T (p.Pro706Leu)	SNV Germline	Chr16:3243370	Conflicting classifications of pathogenicity	Familial Mediterranean fever Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant Condition: not provided	Criteria Provided Conflicting Classifications	CA7859872	rs_202174893	5 SubmittersRCV001246070 RCV003127728 RCV002484375 RCV003127727 RCV004590277
NM_000243.3(MEFV):c.1352T>G (p.Phe451Cys)	SNV Germline	Chr16:3248913	Conflicting classifications of pathogenicity	Familial Mediterranean fever Condition: not provided Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant	Criteria Provided Conflicting Classifications	CA394467428	rs_1958986915	4 SubmittersRCV001238979 RCV001532318 RCV003127715 RCV003127714
NM_000243.3(MEFV):c.623G>C (p.Ser208Thr)	SNV Germline	Chr16:3254445	Conflicting classifications of pathogenicity	Familial Mediterranean fever Autoinflammatory syndrome Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis not specified	Criteria Provided Conflicting Classifications	CA7860375	rs_759326778	4 SubmittersRCV001247261 RCV002264251 RCV003127733 RCV003127734 RCV003235515
NM_000243.3(MEFV):c.497C>T (p.Ser166Leu)	SNV Germline	Chr16:3254571	Conflicting classifications of pathogenicity	Familial Mediterranean fever Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant Condition: not provided Acute febrile neutrophilic dermatosis	Criteria Provided Conflicting Classifications	CA7860417	rs_766670643	6 SubmittersRCV001240669 RCV002480800 RCV003127719 RCV004590266 RCV003127720
NM_000243.3(MEFV):c.378G>T (p.Gly126=)	SNV Germline	Chr16:3254690	Conflicting classifications of pathogenicity	not specified Familial Mediterranean fever Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant	Criteria Provided Conflicting Classifications	CA7860445	rs_777867857	4 SubmittersRCV001264477 RCV001339993 RCV003127741 RCV003127740
NM_000243.3(MEFV):c.1759+12G>A	SNV Germline	Chr16:3244242	Conflicting classifications of pathogenicity	not specified Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant	Criteria Provided Conflicting Classifications	CA7860002	rs_749730274	4 SubmittersRCV001280658 RCV002499490 RCV003127750 RCV003127748 RCV003127749
NM_000243.3(MEFV):c.342G>A (p.Lys114=)	SNV Germline	Chr16:3254726	Conflicting classifications of pathogenicity	Condition: not provided Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Acute febrile neutrophilic dermatosis	Criteria Provided Conflicting Classifications	CA276903173	rs_981883034	5 SubmittersRCV001812486 RCV001835362 RCV003127754 RCV002499494 RCV003127755
NM_000243.3(MEFV):c.202C>T (p.Gln68Ter)	SNV Germline	Chr16:3256386	Conflicting classifications of pathogenicity	Condition: not provided Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant	Criteria Provided Conflicting Classifications	CA7860509	rs_768473920	3 SubmittersRCV001813117 RCV002493511 RCV003127758 RCV003127756 RCV003127757
NM_000243.3(MEFV):c.520A>G (p.Lys174Glu)	SNV Germline	Chr16:3254548	Conflicting classifications of pathogenicity	Familial Mediterranean fever Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant	Criteria Provided Conflicting Classifications	CA394480989	rs_777199024	3 SubmittersRCV001303574 RCV003127777 RCV002486172 RCV003127776
NM_000243.3(MEFV):c.475A>G (p.Ser159Gly)	SNV Germline	Chr16:3254593	Conflicting classifications of pathogenicity	Familial Mediterranean fever Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant	Criteria Provided Conflicting Classifications	CA276902835	rs_797001768	4 SubmittersRCV001309521 RCV002476432 RCV003127789 RCV003127788
NM_000243.3(MEFV):c.319T>G (p.Ser107Ala)	SNV Germline	Chr16:3254749	Conflicting classifications of pathogenicity	Familial Mediterranean fever Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis	Criteria Provided Conflicting Classifications	CA7860457	rs_756029520	4 SubmittersRCV001307126 RCV002476413 RCV003127786 RCV003127787
NM_000243.3(MEFV):c.199G>A (p.Val67Met)	SNV Germline	Chr16:3256389	Conflicting classifications of pathogenicity	Familial Mediterranean fever Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Acute febrile neutrophilic dermatosis Condition: not provided Familial Mediterranean fever, autosomal dominant	Criteria Provided Conflicting Classifications	CA394483782	rs_1422054832	4 SubmittersRCV001871759 RCV002476438 RCV003127791 RCV001310311 RCV003127790
NM_000243.3(MEFV):c.839G>A (p.Arg280Lys)	SNV Germline	Chr16:3254229	Conflicting classifications of pathogenicity	Familial Mediterranean fever Autoinflammatory syndrome Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant	Criteria Provided Conflicting Classifications	CA394476954	rs_1437746739	4 SubmittersRCV001339143 RCV002264271 RCV003127815 RCV003127814
NM_000243.3(MEFV):c.1957C>A (p.Arg653Ser)	SNV Germline	Chr16:3243530	Conflicting classifications of pathogenicity	Familial Mediterranean fever Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant	Criteria Provided Conflicting Classifications	CA394487420	rs_375716505	3 SubmittersRCV001372413 RCV002488177 RCV003127849 RCV003127848
NM_000243.3(MEFV):c.268G>C (p.Ala90Pro)	SNV Germline	Chr16:3256320	Conflicting classifications of pathogenicity	Familial Mediterranean fever Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant	Criteria Provided Conflicting Classifications	CA276904292	rs_376971129	4 SubmittersRCV001360070 RCV002504590 RCV003127833 RCV003127832
NM_000243.3(MEFV):c.149C>T (p.Pro50Leu)	SNV Germline	Chr16:3256439	Conflicting classifications of pathogenicity	Familial Mediterranean fever Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis	Criteria Provided Conflicting Classifications	CA7860525	rs_144716190	4 SubmittersRCV001374636 RCV003127857 RCV003127856 RCV002488189
NM_000243.3(MEFV):c.1677C>T (p.Leu559=)	SNV Germline	Chr16:3244522	Conflicting classifications of pathogenicity	Familial Mediterranean fever Inborn genetic diseases Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis	Criteria Provided Conflicting Classifications	CA7860040	rs_144672997	3 SubmittersRCV001476425 RCV002405127 RCV003127953 RCV003127954
NM_000243.3(MEFV):c.1533G>A (p.Ala511=)	SNV Germline	Chr16:3247070	Conflicting classifications of pathogenicity	Familial Mediterranean fever Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant not specified	Criteria Provided Conflicting Classifications	CA7860106	rs_771061550	4 SubmittersRCV001453535 RCV003127922 RCV003127921 RCV002506530 RCV005237825
NM_000243.3(MEFV):c.765A>G (p.Ala255=)	SNV Germline	Chr16:3254303	Conflicting classifications of pathogenicity	Familial Mediterranean fever Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant	Criteria Provided Conflicting Classifications	CA7860333	rs_771714168	3 SubmittersRCV001477286 RCV002501648 RCV003127956 RCV003127955
NM_000243.3(MEFV):c.1401G>A (p.Glu467=)	SNV Germline	Chr16:3247202	Conflicting classifications of pathogenicity	Familial Mediterranean fever Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis	Criteria Provided Conflicting Classifications	CA493383854	rs_1398639205	3 SubmittersRCV001500707 RCV002495762 RCV003127975 RCV003127976
NM_000243.3(MEFV):c.1005C>T (p.Pro335=)	SNV Germline	Chr16:3249686	Conflicting classifications of pathogenicity	Familial Mediterranean fever Inborn genetic diseases Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant	Criteria Provided Conflicting Classifications	CA7860254	rs_567739580	3 SubmittersRCV001486338 RCV002414178 RCV003127962 RCV003127961
NM_000243.3(MEFV):c.192G>A (p.Glu64=)	SNV Germline	Chr16:3256396	Conflicting classifications of pathogenicity	Familial Mediterranean fever Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7860513	rs_547393490	4 SubmittersRCV001486689 RCV002495726 RCV003127964 RCV003127963 RCV002414179
NM_000243.3(MEFV):c.1510C>T (p.Gln504Ter)	SNV Unknown	Chr16:3247093	Pathogenic	Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant	Criteria Provided Single Submitter	CA276897352	rs_886082025	1 SubmittersRCV001535884
NM_000243.3(MEFV):c.431G>A (p.Cys144Tyr)	SNV Germline	Chr16:3254637	Conflicting classifications of pathogenicity	Condition: not provided Familial Mediterranean fever Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant	Criteria Provided Conflicting Classifications	CA7860427	rs_773320625	5 SubmittersRCV001549976 RCV001827457 RCV003127990 RCV003127989
NM_000243.3(MEFV):c.656G>A (p.Gly219Asp)	SNV Germline	Chr16:3254412	Conflicting classifications of pathogenicity	Condition: not provided Familial Mediterranean fever Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant	Criteria Provided Conflicting Classifications	CA7860360	rs_752973530	3 SubmittersRCV001757430 RCV003125901 RCV002503238 RCV003125903 RCV003125902
NM_000243.3(MEFV):c.1024C>T (p.Pro342Ser)	SNV Germline	Chr16:3249667	Conflicting classifications of pathogenicity	Familial Mediterranean fever, autosomal dominant Condition: not provided Acute febrile neutrophilic dermatosis Familial Mediterranean fever	Criteria Provided Conflicting Classifications	CA276898954	rs_774397209	3 SubmittersRCV003125904 RCV001779667 RCV003125905 RCV001868828
NM_000243.3(MEFV):c.2287G>A (p.Gly763Arg)	SNV Germline	Chr16:3243200	Conflicting classifications of pathogenicity	Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant	Criteria Provided Conflicting Classifications	CA394484611	rs_2141664466	3 SubmittersRCV003125906 RCV001885199 RCV001785241
NM_000243.3(MEFV):c.1130G>A (p.Arg377His)	SNV Germline	Chr16:3249561	Conflicting classifications of pathogenicity	Condition: not provided Familial Mediterranean fever Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant	Criteria Provided Conflicting Classifications	CA7860228	rs_144998416	3 SubmittersRCV001816168 RCV001869640 RCV003125914 RCV003125913
NM_000243.3(MEFV):c.985C>T (p.Arg329Cys)	SNV Germline	Chr16:3249706	Conflicting classifications of pathogenicity	Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA276899005	rs_757216434	4 SubmittersRCV001897894 RCV003125953 RCV002482663 RCV003125954 RCV005590153
NM_000243.3(MEFV):c.1685A>G (p.Gln562Arg)	SNV Germline	Chr16:3244514	Conflicting classifications of pathogenicity	Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Familial Mediterranean fever, autosomal dominant Familial Mediterranean fever Acute febrile neutrophilic dermatosis	Criteria Provided Conflicting Classifications	CA276896123	rs_1033941048	3 SubmittersRCV002507721 RCV003126049 RCV001990757 RCV003126050
NM_000243.3(MEFV):c.2078T>C (p.Met693Thr)	SNV Germline	Chr16:3243409	Conflicting classifications of pathogenicity	Familial Mediterranean fever Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant	Criteria Provided Conflicting Classifications	CA394486148	rs_749052818	3 SubmittersRCV001974306 RCV003126062 RCV002492214 RCV003126061
NM_000243.3(MEFV):c.608T>C (p.Leu203Pro)	SNV Germline	Chr16:3254460	Conflicting classifications of pathogenicity	Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Autoinflammatory syndrome Acute febrile neutrophilic dermatosis	Criteria Provided Conflicting Classifications	CA394479140	rs_1959084389	3 SubmittersRCV001995528 RCV003126069 RCV002264442 RCV003126070
NM_000243.3(MEFV):c.68A>G (p.Lys23Arg)	SNV Germline	Chr16:3256520	Conflicting classifications of pathogenicity	Familial Mediterranean fever Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis	Criteria Provided Conflicting Classifications	CA7860541	rs_754679070	4 SubmittersRCV001896285 RCV003125958 RCV003125957 RCV002506976
NM_000243.3(MEFV):c.933G>A (p.Ala311=)	SNV Germline	Chr16:3249758	Conflicting classifications of pathogenicity	Familial Mediterranean fever Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant	Criteria Provided Conflicting Classifications	CA7860271	rs_774547197	3 SubmittersRCV002208387 RCV003126200 RCV002502028 RCV003126199
NM_000243.3(MEFV):c.426G>C (p.Leu142=)	SNV Germline	Chr16:3254642	Conflicting classifications of pathogenicity	Familial Mediterranean fever Acute febrile neutrophilic dermatosis Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Familial Mediterranean fever, autosomal dominant	Criteria Provided Conflicting Classifications	CA493384357	rs_1465332482	3 SubmittersRCV002113550 RCV003126159 RCV002499997 RCV003126158
NM_000243.3(MEFV):c.1485G>A (p.Arg495=)	SNV Germline	Chr16:3247118	Conflicting classifications of pathogenicity	Familial Mediterranean fever Inborn genetic diseases Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant	Criteria Provided Conflicting Classifications	CA276897378	rs_1012455878	3 SubmittersRCV002137932 RCV002391317 RCV003126183 RCV003126182
NM_000243.3(MEFV):c.298G>C (p.Gly100Arg)	SNV Germline	Chr16:3254770	Conflicting classifications of pathogenicity	Autoinflammatory syndrome Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant Familial Mediterranean fever Acute febrile neutrophilic dermatosis	Criteria Provided Conflicting Classifications	CA7860462	rs_772332566	4 SubmittersRCV002262060 RCV002502075 RCV003126208 RCV003095938 RCV003126209

NM_000243.3(MEFV):c.2080A>G (p.Met694Val)

SNV
Germline

Chr16:3243407

Pathogenic/Likely pathogenic

Familial Mediterranean fever
Condition: not provided
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Autoinflammatory syndrome
Inborn genetic diseases
Recurrent fever
MEFV-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA280091

rs_61752717

53 SubmittersRCV000002647 RCV000216751 RCV000763381 RCV001028046 RCV001197704 RCV001535935 RCV002262539 RCV002415387 RCV003325449 RCV003335011

NM_000243.3(MEFV):c.2082G>A (p.Met694Ile)

SNV
Germline

Chr16:3243405

Pathogenic/Likely pathogenic

Familial Mediterranean fever
Condition: not provided
Familial Mediterranean fever, autosomal dominant
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Autoinflammatory syndrome
MEFV-related disorder
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant

Criteria Provided
Multiple Submitters
No Conflicts

CA280093

rs_28940578

38 SubmittersRCV000002648 RCV000220431 RCV000589706 RCV000763380 RCV002262540 RCV004528066 RCV005016225

NM_000243.3(MEFV):c.2177T>C (p.Val726Ala)

SNV
Germline

Chr16:3243310

Pathogenic/Likely pathogenic

Familial Mediterranean fever
Condition: not provided
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Inborn genetic diseases
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Autoinflammatory syndrome
MEFV-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA280095

rs_28940579

51 SubmittersRCV000002649 RCV000220654 RCV000515437 RCV000623003 RCV000984975 RCV001535867 RCV002262541 RCV004739280

NM_000243.3(MEFV):c.442G>C (p.Glu148Gln)

SNV
Germline

Chr16:3254626

Conflicting classifications of pathogenicity

Familial Mediterranean fever
not specified
Condition: not provided
Familial Mediterranean fever, autosomal dominant
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Inborn genetic diseases
See cases
Autoinflammatory syndrome
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
MEFV-related disorder
Systemic lupus erythematosus

Criteria Provided
Conflicting Classifications

CA280097

rs_3743930

37 SubmittersRCV000002651 RCV000218652 RCV000513398 RCV000761446 RCV000768024 RCV002326658 RCV002251861 RCV002262542 RCV003224086 RCV004528067 RCV005208118

NM_000243.3(MEFV):c.501G>C (p.Glu167Asp)

SNV
Germline

Chr16:3254567

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Condition: not provided
Autoinflammatory syndrome
Familial Mediterranean fever, autosomal dominant
not specified
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever, autosomal dominant
Familial Mediterranean fever

Criteria Provided
Conflicting Classifications

CA280099

rs_104895079

17 SubmittersRCV000002652 RCV000588525 RCV002262543 RCV001262294 RCV003230342 RCV005016226

NM_000243.3(MEFV):c.800C>T (p.Thr267Ile)

SNV
Germline

Chr16:3254268

Conflicting classifications of pathogenicity

Familial Mediterranean fever
not specified
Condition: not provided
Familial Mediterranean fever, autosomal dominant
Autoinflammatory syndrome
MEFV-related disorder
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever, autosomal dominant
Familial Mediterranean fever

Criteria Provided
Conflicting Classifications

CA280101

rs_104895081

17 SubmittersRCV000002653 RCV000991330 RCV000996177 RCV001535446 RCV002262544 RCV004532273 RCV005016227

NM_000243.3(MEFV):c.1437C>G (p.Phe479Leu)

SNV
Germline

Chr16:3247166

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Condition: not provided
Autoinflammatory syndrome
Familial Mediterranean fever, autosomal dominant
not specified
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever, autosomal dominant
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Familial Mediterranean fever

Criteria Provided
Conflicting Classifications

CA280103

rs_104895083

19 SubmittersRCV000002654 RCV000508324 RCV002262545 RCV003466786 RCV003230343 RCV005016228 RCV004771453

NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg)

SNV
Germline

Chr16:3243403

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Condition: not provided
6 conditions
Inborn genetic diseases
not specified
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Heart, malformation of
Abnormal cardiovascular system morphology
Renal insufficiency
Autoinflammatory syndrome
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
MEFV-related disorder

Criteria Provided
Conflicting Classifications

CA280105

rs_104895094

39 SubmittersRCV000002656 RCV000213470 RCV000415431 RCV000622573 RCV000508192 RCV000768021 RCV001270033 RCV002262546 RCV003389035 RCV003224087 RCV004739281

NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser)

SNV
Germline

Chr16:3243257

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Condition: not provided
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
not specified
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Familial Mediterranean fever, autosomal dominant
Autoinflammatory syndrome
Inborn genetic diseases
MEFV-related disorder

Criteria Provided
Conflicting Classifications

CA280107

rs_61732874

41 SubmittersRCV000002657 RCV000213702 RCV000768020 RCV000999738 RCV001535864 RCV001770031 RCV002262547 RCV002415388 RCV004532274

NM_000243.3(MEFV):c.2282G>A (p.Arg761His)

SNV
Germline

Chr16:3243205

Pathogenic/Likely pathogenic

Familial Mediterranean fever
Condition: not provided
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Autoinflammatory syndrome
Inborn genetic diseases
Familial Mediterranean fever, autosomal dominant
MEFV-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA280110

rs_104895097

33 SubmittersRCV000002658 RCV000217233 RCV000763379 RCV001536101 RCV002262548 RCV002512683 RCV003466787 RCV004739282

NM_000243.3(MEFV):c.2040G>A (p.Met680Ile)

SNV
Germline

Chr16:3243447

Pathogenic

Familial Mediterranean fever
Condition: not provided
Familial Mediterranean fever, autosomal dominant
Autoinflammatory syndrome
MEFV-related disorder
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant

Criteria Provided
Multiple Submitters
No Conflicts

CA280112

rs_28940580

24 SubmittersRCV000002659 RCV000216518 RCV001283820 RCV002262549 RCV004724727 RCV005016229

NM_000243.3(MEFV):c.1958G>A (p.Arg653His)

SNV
Germline

Chr16:3243529

Pathogenic/Likely pathogenic

Familial Mediterranean fever
Condition: not provided
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant

Criteria Provided
Multiple Submitters
No Conflicts

CA280118

rs_104895085

14 SubmittersRCV000002662 RCV000255083 RCV003466788 RCV005016230

NM_000243.3(MEFV):c.443A>T (p.Glu148Val)

SNV
Germline

Chr16:3254625

Conflicting classifications of pathogenicity

Familial Mediterranean fever
not specified
Condition: not provided
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever, autosomal dominant
Familial Mediterranean fever
Acute febrile neutrophilic dermatosis
Autoinflammatory syndrome
Familial Mediterranean fever, autosomal dominant

Criteria Provided
Conflicting Classifications

CA280120

rs_104895076

13 SubmittersRCV000002663 RCV000216721 RCV000415966 RCV002482818 RCV003125826 RCV002262552 RCV003125825

NM_000243.3(MEFV):c.1432C>T (p.His478Tyr)

SNV
Germline

Chr16:3247171

Conflicting classifications of pathogenicity

Familial Mediterranean fever, autosomal dominant
Familial Mediterranean fever
Condition: not provided
Acute febrile neutrophilic dermatosis

Criteria Provided
Conflicting Classifications

CA115610

rs_104895105

7 SubmittersRCV000002666 RCV000083696 RCV001562614 RCV003125827

NM_000243.3(MEFV):c.1260+10C>T

SNV
Germline

Chr16:3249421

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
not specified
Condition: not provided
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis
Autoinflammatory syndrome

Criteria Provided
Conflicting Classifications

CA280244

rs_104895137

9 SubmittersRCV000030170 RCV001280974 RCV001000668 RCV001705603 RCV003224107 RCV002262578

NM_000243.3(MEFV):c.1318C>G (p.Gln440Glu)

SNV
Germline

Chr16:3248947

Conflicting classifications of pathogenicity

Condition: not provided
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Familial Mediterranean fever
not specified
Autoinflammatory syndrome
See cases
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis

Criteria Provided
Conflicting Classifications

CA280245

rs_11466026

10 SubmittersRCV000586627 RCV001281041 RCV000989483 RCV001526854 RCV002262579 RCV002251931 RCV003224108

NM_000243.3(MEFV):c.1503C>T (p.Arg501=)

SNV
Germline

Chr16:3247100

Conflicting classifications of pathogenicity

Familial Mediterranean fever
not specified
Autoinflammatory syndrome
Inborn genetic diseases
Condition: not provided
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis

Criteria Provided
Conflicting Classifications

CA280251

rs_76464258

12 SubmittersRCV000030173 RCV000251198 RCV002262581 RCV002390122 RCV001689576 RCV003125839 RCV003125840

NM_000243.3(MEFV):c.1772T>C (p.Ile591Thr)

SNV
Germline

Chr16:3243880

Conflicting classifications of pathogenicity

Familial Mediterranean fever
not specified
Condition: not provided
Acute febrile neutrophilic dermatosis
Autoinflammatory syndrome
Inborn genetic diseases
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant

Criteria Provided
Conflicting Classifications

CA280263

rs_11466045

13 SubmittersRCV000030178 RCV000214973 RCV000589464 RCV001197906 RCV002262585 RCV002408482 RCV003224109

NM_000243.3(MEFV):c.2040G>C (p.Met680Ile)

SNV
Germline

Chr16:3243447

Pathogenic

Familial Mediterranean fever
Condition: not provided
Acute febrile neutrophilic dermatosis
See cases
Familial Mediterranean fever, autosomal dominant
Inborn genetic diseases
Autoinflammatory syndrome
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
MEFV-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA280267

rs_28940580

39 SubmittersRCV000030179 RCV000222364 RCV001197705 RCV002251932 RCV002254152 RCV002415433 RCV002262586 RCV002477026 RCV004739312

NM_000243.3(MEFV):c.941G>A (p.Arg314His)

SNV
Germline

Chr16:3249750

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Condition: not provided
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis

Criteria Provided
Conflicting Classifications

CA280283

rs_104895204

8 SubmittersRCV000030187 RCV003125843 RCV003480037 RCV003125844 RCV005016300

NM_000243.3(MEFV):c.97G>T (p.Val33Leu)

SNV
Germline

Chr16:3256491

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Condition: not provided
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Familial Mediterranean fever, autosomal dominant
not specified
Autoinflammatory syndrome
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis

Criteria Provided
Conflicting Classifications

CA280289

rs_11466016

9 SubmittersRCV000030189 RCV000589938 RCV000768268 RCV001276303 RCV001290446 RCV002262594 RCV003224110

NM_000243.3(MEFV):c.863C>A (p.Ser288Tyr)

SNV
Germline/somatic

Chr16:3254205

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever, autosomal dominant

Criteria Provided
Conflicting Classifications

CA280335

rs_387907567

5 SubmittersRCV000049562 RCV002483065 RCV003125890 RCV003125889

NM_000243.3(MEFV):c.343C>A (p.Pro115Thr)

SNV
Germline/somatic

Chr16:3254725

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Condition: not provided
not specified
Autoinflammatory syndrome
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis

Criteria Provided
Conflicting Classifications

CA280349

rs_147557169

9 SubmittersRCV000083246 RCV000221844 RCV001193206 RCV002262627 RCV005016362

NM_000243.3(MEFV):c.1043G>A (p.Arg348His)

SNV
Germline

Chr16:3249648

Conflicting classifications of pathogenicity

Familial Mediterranean fever
not specified
Condition: not provided
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Autoinflammatory syndrome

Criteria Provided
Conflicting Classifications

CA280361

rs_104895198

9 SubmittersRCV000083679 RCV000417776 RCV000755567 RCV005357533 RCV002262629

NM_000243.3(MEFV):c.1060C>T (p.Arg354Trp)

SNV
Germline

Chr16:3249631

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis
Condition: not provided
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis

Criteria Provided
Conflicting Classifications

CA280367

rs_104895116

8 SubmittersRCV000083681 RCV002483159 RCV003480054 RCV003126415 RCV003126416

NM_000243.3(MEFV):c.1089C>T (p.Ser363=)

SNV
Germline

Chr16:3249602

Conflicting classifications of pathogenicity

Familial Mediterranean fever
not specified
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis

Criteria Provided
Conflicting Classifications

CA280370

rs_104895170

4 SubmittersRCV000083682 RCV000615290 RCV003126417 RCV003126418

NM_000243.3(MEFV):c.1091C>T (p.Pro364Leu)

SNV
Germline

Chr16:3249600

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Autoinflammatory syndrome
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever, autosomal dominant

Criteria Provided
Conflicting Classifications

CA280373

rs_104895214

5 SubmittersRCV000083683 RCV002262630 RCV002490734 RCV003126420 RCV003126419

NM_000243.3(MEFV):c.1179C>T (p.Pro393=)

SNV
Germline

Chr16:3249512

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Acute febrile neutrophilic dermatosis
not specified
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever, autosomal dominant

Criteria Provided
Conflicting Classifications

CA280379

rs_104895082

6 SubmittersRCV000083685 RCV003126422 RCV001192541 RCV002490735 RCV003126421

NM_000243.3(MEFV):c.1261-28A>G

SNV
Germline

Chr16:3249032

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Condition: not provided
Central core myopathy
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever, autosomal dominant

Criteria Provided
Conflicting Classifications

CA280388

rs_104895140

6 SubmittersRCV000083690 RCV001711585 RCV001258254 RCV003126424 RCV003126423

NM_000243.3(MEFV):c.1370C>T (p.Ala457Val)

SNV
Germline

Chr16:3247233

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Condition: not provided
not specified
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant

Criteria Provided
Conflicting Classifications

CA280392

rs_104895151

10 SubmittersRCV000083692 RCV000512979 RCV000855597 RCV003224140 RCV001280972

NM_000243.3(MEFV):c.1405G>T (p.Val469Leu)

SNV
Germline

Chr16:3247198

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Condition: not provided
Acute febrile neutrophilic dermatosis
not specified

Criteria Provided
Conflicting Classifications

CA280395

rs_104895173

5 SubmittersRCV000083693 RCV003126425 RCV005251061 RCV003126426 RCV001553681

NM_000243.3(MEFV):c.1459G>A (p.Val487Met)

SNV
Germline

Chr16:3247144

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever, autosomal dominant
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis

Criteria Provided
Conflicting Classifications

CA280403

rs_104895100

6 SubmittersRCV000083697 RCV003126428 RCV003126427 RCV002477245

NM_000243.3(MEFV):c.1501C>G (p.Arg501Gly)

SNV
Germline

Chr16:3247102

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever, autosomal dominant

Criteria Provided
Conflicting Classifications

CA280409

rs_104895101

5 SubmittersRCV000083699 RCV003126430 RCV002483160 RCV003126429

NM_000243.3(MEFV):c.1538T>C (p.Ile513Thr)

SNV
Germline

Chr16:3247065

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Condition: not provided
Acute febrile neutrophilic dermatosis

Criteria Provided
Conflicting Classifications

CA280418

rs_104895199

4 SubmittersRCV000083702 RCV003126431 RCV001753485 RCV003126432

NM_000243.3(MEFV):c.1744A>C (p.Met582Leu)

SNV
Germline

Chr16:3244269

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Autoinflammatory syndrome
not specified
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis
Acute febrile neutrophilic dermatosis

Criteria Provided
Conflicting Classifications

CA280431

rs_104895165

8 SubmittersRCV000083708 RCV003126433 RCV002262634 RCV003488380 RCV002483161 RCV003126434

NM_000243.3(MEFV):c.1760-28T>A

SNV
Germline

Chr16:3243920

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Condition: not provided
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis
not specified

Criteria Provided
Conflicting Classifications

CA280434

rs_104895169

6 SubmittersRCV000083709 RCV001701499 RCV005394355 RCV005237525

NM_000243.3(MEFV):c.1795A>G (p.Asn599Asp)

SNV
Germline

Chr16:3243692

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Condition: not provided
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever, autosomal dominant
Autoinflammatory syndrome

Criteria Provided
Conflicting Classifications

CA280449

rs_104895210

7 SubmittersRCV000083716 RCV000218478 RCV002505013 RCV003126436 RCV003126435 RCV002262636

NM_000243.3(MEFV):c.1827C>G (p.Pro609=)

SNV
Germline

Chr16:3243660

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Condition: not provided
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever, autosomal dominant
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA280456

rs_104895135

7 SubmittersRCV000083718 RCV000834990 RCV003126438 RCV003126437 RCV001797624 RCV004948178

NM_000243.3(MEFV):c.1894G>A (p.Gly632Ser)

SNV
Germline

Chr16:3243593

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Condition: not provided

Criteria Provided
Conflicting Classifications

CA280459

rs_104895128

12 SubmittersRCV000083719 RCV000763382 RCV003447490 RCV003224141 RCV001811392

NM_000243.3(MEFV):c.2024G>A (p.Ser675Asn)

SNV
Germline

Chr16:3243463

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever, autosomal dominant

Criteria Provided
Conflicting Classifications

CA280485

rs_104895087

4 SubmittersRCV000083730 RCV000768022 RCV003224142 RCV003126440 RCV003126439

NM_000243.3(MEFV):c.2033G>A (p.Gly678Glu)

SNV
Germline

Chr16:3243454

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Condition: not provided
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever, autosomal dominant

Criteria Provided
Conflicting Classifications

CA280487

rs_104895088

8 SubmittersRCV000083731 RCV000414076 RCV002498439 RCV003126442 RCV003126441

NM_000243.3(MEFV):c.2109C>T (p.Ser703=)

SNV
Germline

Chr16:3243378

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Condition: not provided
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever, autosomal dominant
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA280523

rs_104895118

9 SubmittersRCV000083745 RCV001539987 RCV002498440 RCV003126446 RCV003126445 RCV005237526 RCV005364978

NM_000243.3(MEFV):c.2110G>A (p.Val704Ile)

SNV
Germline

Chr16:3243377

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis

Criteria Provided
Conflicting Classifications

CA280526

rs_104895096

4 SubmittersRCV000083746 RCV003126447 RCV003126448

NM_000243.3(MEFV):c.2122C>T (p.Arg708Cys)

SNV
Germline

Chr16:3243365

Conflicting classifications of pathogenicity

Familial Mediterranean fever
not specified
Autoinflammatory syndrome
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA280530

rs_104895202

8 SubmittersRCV000083748 RCV000780404 RCV002262641 RCV003126449 RCV003126450 RCV004791263

NM_000243.3(MEFV):c.2160C>G (p.Ile720Met)

SNV
Germline

Chr16:3243327

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever, autosomal dominant
not specified
MEFV-related disorder
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis

Criteria Provided
Conflicting Classifications

CA280539

rs_104895102

10 SubmittersRCV000083751 RCV003126452 RCV003126451 RCV000780406 RCV004529874 RCV005016366

NM_000243.3(MEFV):c.2164G>A (p.Val722Met)

SNV
Germline

Chr16:3243323

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever, autosomal dominant
not specified
Condition: not provided
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis

Criteria Provided
Conflicting Classifications

CA280541

rs_104895201

10 SubmittersRCV000083752 RCV003126454 RCV003126453 RCV001175016 RCV001701661 RCV005016367

NM_000243.3(MEFV):c.2169C>T (p.Asp723=)

SNV
Germline

Chr16:3243318

Conflicting classifications of pathogenicity

Familial Mediterranean fever
not specified
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever, autosomal dominant

Criteria Provided
Conflicting Classifications

CA280544

rs_104895117

4 SubmittersRCV000083753 RCV000780403 RCV003126456 RCV003126455

NM_000243.3(MEFV):c.2229C>G (p.Phe743Leu)

SNV
Germline

Chr16:3243258

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Condition: not provided
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever, autosomal dominant

Criteria Provided
Conflicting Classifications

CA280550

rs_104895152

7 SubmittersRCV000083755 RCV003133133 RCV002483162 RCV003126458 RCV003126457

NM_000243.3(MEFV):c.2246C>G (p.Ser749Cys)

SNV
Germline

Chr16:3243241

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Condition: not provided
not specified
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever, autosomal dominant

Criteria Provided
Conflicting Classifications

CA280555

rs_104895171

9 SubmittersRCV000083757 RCV000520754 RCV001000179 RCV002498441 RCV003126460 RCV003126459

NM_000243.3(MEFV):c.2263A>G (p.Ile755Val)

SNV
Germline

Chr16:3243224

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Condition: not provided
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever, autosomal dominant
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis

Criteria Provided
Conflicting Classifications

CA280561

rs_104895194

6 SubmittersRCV000083759 RCV001562685 RCV003126462 RCV003126461 RCV002483163

NM_000243.3(MEFV):c.2314A>G (p.Ile772Val)

SNV
Germline

Chr16:3243173

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Condition: not provided
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever, autosomal dominant

Criteria Provided
Conflicting Classifications

CA280566

rs_104895163

7 SubmittersRCV000083761 RCV000223191 RCV003126464 RCV002498442 RCV003126463

NM_000243.3(MEFV):c.2337G>C (p.Gly779=)

SNV
Germline

Chr16:3243150

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Inborn genetic diseases
Acute febrile neutrophilic dermatosis
Condition: not provided
Familial Mediterranean fever, autosomal dominant

Criteria Provided
Conflicting Classifications

CA280569

rs_104895153

7 SubmittersRCV000083762 RCV002444555 RCV003126466 RCV001704008 RCV003126465

NM_000243.3(MEFV):c.2338C>A (p.Pro780Thr)

SNV
Germline

Chr16:3243149

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Condition: not provided
Familial Mediterranean fever, autosomal dominant
not specified
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis
Autoinflammatory syndrome
Acute febrile neutrophilic dermatosis

Criteria Provided
Conflicting Classifications

CA280572

rs_104895154

11 SubmittersRCV000083763 RCV000217446 RCV003126467 RCV002298469 RCV005016368 RCV002262642 RCV003126468

NM_000243.3(MEFV):c.265G>A (p.Ala89Thr)

SNV
Germline

Chr16:3256323

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever, autosomal dominant
not specified

Criteria Provided
Conflicting Classifications

CA280577

rs_104895124

7 SubmittersRCV000083765 RCV002483164 RCV003126470 RCV003126469 RCV002281918

NM_000243.3(MEFV):c.322A>C (p.Ser108Arg)

SNV
Germline

Chr16:3254746

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Condition: not provided
not specified
Autoinflammatory syndrome
Inborn genetic diseases
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis

Criteria Provided
Conflicting Classifications

CA280583

rs_104895103

13 SubmittersRCV000083767 RCV000586697 RCV001000180 RCV002262644 RCV002321581 RCV002477246 RCV003126471 RCV003126472

NM_000243.3(MEFV):c.422G>T (p.Ser141Ile)

SNV
Germline

Chr16:3254646

Conflicting classifications of pathogenicity

Familial Mediterranean fever
not specified
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis

Criteria Provided
Conflicting Classifications

CA280601

rs_104895130

5 SubmittersRCV000083774 RCV002509206 RCV003126475 RCV003126476

NM_000243.3(MEFV):c.524C>A (p.Pro175His)

SNV
Germline

Chr16:3254544

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Condition: not provided
Autoinflammatory syndrome
not specified
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever, autosomal dominant
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis

Criteria Provided
Conflicting Classifications

CA280615

rs_104895126

8 SubmittersRCV000083779 RCV001588911 RCV002262647 RCV005237527 RCV003126478 RCV003126477 RCV002490736

NM_000243.3(MEFV):c.530C>T (p.Thr177Ile)

SNV
Germline

Chr16:3254538

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Condition: not provided
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever, autosomal dominant

Criteria Provided
Conflicting Classifications

CA280618

rs_104895143

6 SubmittersRCV000083780 RCV001811393 RCV003126480 RCV003126479

NM_000243.3(MEFV):c.540G>C (p.Pro180=)

SNV
Germline

Chr16:3254528

Conflicting classifications of pathogenicity

Familial Mediterranean fever
not specified
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis

Criteria Provided
Conflicting Classifications

CA280626

rs_104895139

6 SubmittersRCV000083783 RCV000610894 RCV003126481 RCV003126482

NM_000243.3(MEFV):c.688G>A (p.Glu230Lys)

SNV
Germline

Chr16:3254380

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Condition: not provided
not specified
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis
Autoinflammatory syndrome
Familial Mediterranean fever, autosomal dominant

Criteria Provided
Conflicting Classifications

CA280639

rs_104895080

14 SubmittersRCV000083789 RCV000213898 RCV002265603 RCV001027835 RCV003224143 RCV002262651 RCV004546431

NM_000243.3(MEFV):c.726C>A (p.Ser242Arg)

SNV
Germline

Chr16:3254342

Pathogenic/Likely pathogenic

Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis
Neuronal ceroid lipofuscinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA280647

rs_104895127

4 SubmittersRCV000083792 RCV001804836 RCV005016370 RCV004542801

NM_000243.3(MEFV):c.726C>G (p.Ser242Arg)

SNV
Germline

Chr16:3254342

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Condition: not provided
Acute febrile neutrophilic dermatosis
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant

Criteria Provided
Conflicting Classifications

CA280650

rs_104895127

6 SubmittersRCV000083793 RCV001172095 RCV001174523 RCV005016371

NM_000243.3(MEFV):c.751G>A (p.Glu251Lys)

SNV
Germline

Chr16:3254317

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Condition: not provided
Familial Mediterranean fever, autosomal dominant
Autoinflammatory syndrome
Acute febrile neutrophilic dermatosis

Criteria Provided
Conflicting Classifications

CA280654

rs_104895111

6 SubmittersRCV000083795 RCV001701743 RCV003126483 RCV002262653 RCV003126484

NM_000243.3(MEFV):c.775A>G (p.Ile259Val)

SNV
Germline

Chr16:3254293

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Condition: not provided
Autoinflammatory syndrome
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever, autosomal dominant
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis
MEFV-related disorder

Criteria Provided
Conflicting Classifications

CA280658

rs_104895144

11 SubmittersRCV000083797 RCV000587366 RCV002262654 RCV003126486 RCV003126485 RCV002505014 RCV004529876

NM_000243.3(MEFV):c.803C>T (p.Ala268Val)

SNV
Germline

Chr16:3254265

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever, autosomal dominant
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis

Criteria Provided
Conflicting Classifications

CA280661

rs_104895123

6 SubmittersRCV000083798 RCV003126488 RCV003126487 RCV002498443

NM_000243.3(MEFV):c.848C>G (p.Pro283Arg)

SNV
Germline

Chr16:3254220

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Condition: not provided
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever, autosomal dominant

Criteria Provided
Conflicting Classifications

CA280667

rs_104895119

7 SubmittersRCV000083800 RCV000221070 RCV000765291 RCV003126490 RCV003126489

NM_000243.3(MEFV):c.848C>T (p.Pro283Leu)

SNV
Germline

Chr16:3254220

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever, autosomal dominant

Criteria Provided
Conflicting Classifications

CA280670

rs_104895119

4 SubmittersRCV000083801 RCV003126492 RCV002505015 RCV003126491

NM_000243.3(MEFV):c.866C>T (p.Ala289Val)

SNV
Germline

Chr16:3254202

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Condition: not provided
Autoinflammatory syndrome
not specified
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant

Criteria Provided
Conflicting Classifications

CA280673

rs_104895132

11 SubmittersRCV000083802 RCV000594000 RCV002262656 RCV003114248 RCV003126494 RCV003126493 RCV002483165

NM_000243.3(MEFV):c.955G>A (p.Glu319Lys)

SNV
Germline

Chr16:3249736

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Condition: not provided
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever, autosomal dominant

Criteria Provided
Conflicting Classifications

CA280684

rs_104895110

7 SubmittersRCV000083807 RCV001701500 RCV003126496 RCV003126495

NM_000243.3(MEFV):c.986G>A (p.Arg329His)

SNV
Germline

Chr16:3249705

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Condition: not provided
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Autoinflammatory syndrome
not specified
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant

Criteria Provided
Conflicting Classifications

CA280689

rs_104895112

17 SubmittersRCV000083809 RCV000585083 RCV001280973 RCV002262658 RCV000855598 RCV003224144

NM_000243.3(MEFV):c.1082G>C (p.Arg361Thr)

SNV
Germline/somatic

Chr16:3249609

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis

Criteria Provided
Conflicting Classifications

CA280896

rs_190405488

5 SubmittersRCV000148029 RCV003126540 RCV003126541 RCV002498677

NM_000243.3(MEFV):c.369C>A (p.His123Gln)

SNV
Germline/somatic

Chr16:3254699

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Condition: not provided
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever, autosomal dominant
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA280902

rs_587783379

5 SubmittersRCV000148289 RCV000589662 RCV003126543 RCV003126542 RCV002515994

NM_000243.3(MEFV):c.2146A>G (p.Lys716Glu)

SNV
Germline

Chr16:3243341

Conflicting classifications of pathogenicity

Condition: not provided
Familial Mediterranean fever
not specified
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever, autosomal dominant

Criteria Provided
Conflicting Classifications

CA7859868

rs_746092199

5 SubmittersRCV000218313 RCV000795673 RCV001328382 RCV003126632 RCV003126631

NM_000243.3(MEFV):c.2141C>T (p.Pro714Leu)

SNV
Germline

Chr16:3243346

Conflicting classifications of pathogenicity

Condition: not provided
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant

Criteria Provided
Conflicting Classifications

CA7859869

rs_758628487

3 SubmittersRCV000219567 RCV002500741 RCV003126641 RCV003126639 RCV003126640

NM_000243.3(MEFV):c.1759+1G>A

SNV
Germline

Chr16:3244253

Conflicting classifications of pathogenicity

Condition: not provided
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever

Criteria Provided
Conflicting Classifications

CA10577518

rs_876660996

4 SubmittersRCV000223214 RCV005016610 RCV005090135

NM_000243.3(MEFV):c.1337A>C (p.Glu446Ala)

SNV
Germline

Chr16:3248928

Conflicting classifications of pathogenicity

Condition: not provided
Familial Mediterranean fever
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis
Autoinflammatory syndrome
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever, autosomal dominant

Criteria Provided
Conflicting Classifications

CA7860180

rs_749651486

6 SubmittersRCV000219419 RCV000632789 RCV002478821 RCV002262826 RCV003126638 RCV003126637

NM_000243.3(MEFV):c.959G>C (p.Gly320Ala)

SNV
Germline

Chr16:3249732

Conflicting classifications of pathogenicity

Condition: not provided
Familial Mediterranean fever
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis

Criteria Provided
Conflicting Classifications

CA7860264

rs_374412819

5 SubmittersRCV000217797 RCV001349028 RCV002485438 RCV003126627 RCV003126628

NM_000243.3(MEFV):c.1066C>G (p.Gln356Glu)

SNV
Germline

Chr16:3249625

Conflicting classifications of pathogenicity

Condition: not provided
Familial Mediterranean fever
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever, autosomal dominant

Criteria Provided
Conflicting Classifications

CA7860240

rs_377754606

4 SubmittersRCV000214481 RCV001833230 RCV003126636 RCV002478820 RCV003126635

NM_000243.3(MEFV):c.547C>A (p.Pro183Thr)

SNV
Germline

Chr16:3254521

Conflicting classifications of pathogenicity

Condition: not provided
Familial Mediterranean fever
Autoinflammatory syndrome
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis

Criteria Provided
Conflicting Classifications

CA7860401

rs_202196752

7 SubmittersRCV000213498 RCV001247010 RCV002262822 RCV002500739 RCV003126625 RCV003126626

NM_000243.3(MEFV):c.511G>A (p.Ala171Thr)

SNV
Germline

Chr16:3254557

Conflicting classifications of pathogenicity

Condition: not provided
Familial Mediterranean fever
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever, autosomal dominant

Criteria Provided
Conflicting Classifications

CA10577522

rs_876660993

4 SubmittersRCV000216945 RCV001371018 RCV003126624 RCV003126623

NM_000243.3(MEFV):c.460T>C (p.Ser154Pro)

SNV
Germline

Chr16:3254608

Conflicting classifications of pathogenicity

Condition: not provided
Familial Mediterranean fever
not specified
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis

Criteria Provided
Conflicting Classifications

CA7860420

rs_756975501

9 SubmittersRCV000218924 RCV000695122 RCV001193204 RCV001731531 RCV002494603 RCV003126622

NM_000243.3(MEFV):c.439C>G (p.Pro147Ala)

SNV
Germline

Chr16:3254629

Conflicting classifications of pathogenicity

Condition: not provided
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant

Criteria Provided
Conflicting Classifications

CA10577524

rs_876660991

3 SubmittersRCV000215134 RCV003126621 RCV002478819 RCV003126619 RCV003126620

NM_000243.3(MEFV):c.436C>T (p.Gln146Ter)

SNV
Germline

Chr16:3254632

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Familial Mediterranean fever
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever, autosomal dominant

Criteria Provided
Conflicting Classifications

CA10577525

rs_876660990

4 SubmittersRCV000222115 RCV000781527 RCV000818575 RCV003126618 RCV003126617

NM_000243.3(MEFV):c.407G>A (p.Gly136Glu)

SNV
Germline

Chr16:3254661

Conflicting classifications of pathogenicity

Condition: not provided
Familial Mediterranean fever
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever, autosomal dominant
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis

Criteria Provided
Conflicting Classifications

CA10577526

rs_876660989

5 SubmittersRCV000218405 RCV000688336 RCV003126616 RCV003126615 RCV005396731

NM_000243.3(MEFV):c.233A>G (p.Asn78Ser)

SNV
Germline

Chr16:3256355

Conflicting classifications of pathogenicity

Condition: not provided
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis

Criteria Provided
Conflicting Classifications

CA7860501

rs_145015653

5 SubmittersRCV000215498 RCV001121438 RCV003126633 RCV003126634

NM_000243.3(MEFV):c.611G>A (p.Arg204His)

SNV
Germline

Chr16:3254457

Conflicting classifications of pathogenicity

Familial Mediterranean fever
not specified
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7860378

rs_775663363

6 SubmittersRCV000491523 RCV001804980 RCV003126649 RCV003126650 RCV003480573

NM_000243.3(MEFV):c.250G>C (p.Glu84Gln)

SNV
Germline

Chr16:3256338

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever, autosomal dominant

Criteria Provided
Conflicting Classifications

CA7860492

rs_150819742

3 SubmittersRCV002041254 RCV002486745 RCV003126098 RCV003126097

NM_000243.3(MEFV):c.1341G>C (p.Lys447Asn)

SNV
Germline

Chr16:3248924

Conflicting classifications of pathogenicity

Condition: not provided
Familial Mediterranean fever
not specified
Acute febrile neutrophilic dermatosis
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Familial Mediterranean fever, autosomal dominant

Criteria Provided
Conflicting Classifications

CA7860178

rs_756322372

9 SubmittersRCV000398473 RCV001044845 RCV001264418 RCV003126660 RCV002487174 RCV003126659

NM_000243.3(MEFV):c.1957C>T (p.Arg653Cys)

SNV
Germline

Chr16:3243530

Conflicting classifications of pathogenicity

Condition: not provided
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant

Criteria Provided
Conflicting Classifications

CA7859890

rs_375716505

5 SubmittersRCV000587289 RCV003126665 RCV001276186 RCV003126664

NM_000243.3(MEFV):c.1513G>T (p.Asp505Tyr)

SNV
Germline

Chr16:3247090

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Condition: not provided
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis

Criteria Provided
Conflicting Classifications

CA10637690

rs_150730718

6 SubmittersRCV000336445 RCV001358002 RCV003126668 RCV002487407 RCV003126669

NM_000243.3(MEFV):c.1406T>C (p.Val469Ala)

SNV
Germline

Chr16:3247197

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Familial Mediterranean fever, autosomal dominant
Autoinflammatory syndrome
not specified
Acute febrile neutrophilic dermatosis

Criteria Provided
Conflicting Classifications

CA7860134

rs_778686119

7 SubmittersRCV000336657 RCV002487408 RCV003126670 RCV002263010 RCV002468940 RCV003126671

NM_000243.3(MEFV):c.289C>T (p.Gln97Ter)

SNV
Germline

Chr16:3254779

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever, autosomal dominant
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7860464

rs_747515115

4 SubmittersRCV000293866 RCV002480142 RCV003126673 RCV003126672 RCV002522844

NM_000243.3(MEFV):c.277G>C (p.Glu93Gln)

SNV
Germline

Chr16:3256311

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Condition: not provided
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever, autosomal dominant

Criteria Provided
Conflicting Classifications

CA7860489

rs_138498376

6 SubmittersRCV000348765 RCV001812836 RCV003126675 RCV003126674

NM_000243.3(MEFV):c.1099C>G (p.Leu367Val)

SNV
Germline

Chr16:3249592

Conflicting classifications of pathogenicity

Behcet disease
Familial Mediterranean fever
Condition: not provided
not specified
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever, autosomal dominant

Criteria Provided
Conflicting Classifications

CA16044017

rs_1057519328

6 SubmittersRCV000416346 RCV002521488 RCV003133255 RCV001805036 RCV002480275 RCV003126719 RCV003126718

NM_000243.3(MEFV):c.2292G>T (p.Gly764=)

SNV
Germline

Chr16:3243195

Conflicting classifications of pathogenicity

Condition: not provided
Autoinflammatory syndrome
not specified
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever, autosomal dominant
Familial Mediterranean fever
Familial Mediterranean fever
MEFV-related disorder

Criteria Provided
Conflicting Classifications

CA7859840

rs_142352887

11 SubmittersRCV000429125 RCV002263677 RCV001000190 RCV005018721 RCV000989470 RCV004739719

NM_000243.3(MEFV):c.489G>T (p.Glu163Asp)

SNV
Germline

Chr16:3254579

Conflicting classifications of pathogenicity

Condition: not provided
Familial Mediterranean fever
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever, autosomal dominant
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis

Criteria Provided
Conflicting Classifications

CA7860418

rs_759997694

5 SubmittersRCV000432274 RCV001835805 RCV003126739 RCV003126738 RCV002506080

NM_000243.3(MEFV):c.1759+11C>T

SNV
Germline

Chr16:3244243

Conflicting classifications of pathogenicity

not specified
Familial Mediterranean fever
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis

Criteria Provided
Conflicting Classifications

CA7860003

rs_370349451

4 SubmittersRCV000506579 RCV002056907 RCV002506235 RCV003126782 RCV003126783

NM_000243.3(MEFV):c.1356+31G>T

SNV
Germline

Chr16:3248878

Conflicting classifications of pathogenicity

Condition: not provided
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant

Criteria Provided
Conflicting Classifications

CA7860166

rs_142775938

3 SubmittersRCV001584224 RCV003126777 RCV003126775 RCV003126776

NM_000243.3(MEFV):c.1610+8G>A

SNV
Germline

Chr16:3246517

Conflicting classifications of pathogenicity

Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever
Condition: not provided
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis
not specified
MEFV-related disorder

Criteria Provided
Conflicting Classifications

CA7860071

rs_765410591

6 SubmittersRCV003126778 RCV003126779 RCV001429606 RCV001810995 RCV002496968 RCV005056099 RCV004541587

NM_000243.3(MEFV):c.786T>C (p.Thr262=)

SNV
Germline

Chr16:3254282

Conflicting classifications of pathogenicity

Condition: not provided
Familial Mediterranean fever, autosomal dominant
Familial Mediterranean fever
Acute febrile neutrophilic dermatosis

Criteria Provided
Conflicting Classifications

CA7860330

rs_575521131

4 SubmittersRCV000505968 RCV003126780 RCV001410018 RCV003126781

NM_000243.3(MEFV):c.289C>A (p.Gln97Lys)

SNV
Germline

Chr16:3254779

Conflicting classifications of pathogenicity

Acute febrile neutrophilic dermatosis
Condition: not provided
Autoinflammatory syndrome
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis

Criteria Provided
Conflicting Classifications

CA7860463

rs_747515115

6 SubmittersRCV003126787 RCV000514677 RCV002263722 RCV000632795 RCV003126786 RCV005018873

NM_000243.3(MEFV):c.1171G>A (p.Asp391Asn)

SNV
Germline

Chr16:3249520

Conflicting classifications of pathogenicity

Condition: not provided
Familial Mediterranean fever
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever, autosomal dominant

Criteria Provided
Conflicting Classifications

CA7860224

rs_764274816

7 SubmittersRCV000520467 RCV001209535 RCV002506272 RCV003126794 RCV003126793

NM_000243.3(MEFV):c.532C>T (p.Arg178Trp)

SNV
Germline

Chr16:3254536

Conflicting classifications of pathogenicity

Condition: not provided
Familial Mediterranean fever
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis

Criteria Provided
Conflicting Classifications

CA394480937

rs_1555459404

4 SubmittersRCV000520666 RCV001834689 RCV002497019 RCV003126791 RCV003126792

NM_000243.3(MEFV):c.1222C>T (p.Arg408Trp)

SNV
Germline

Chr16:3249469

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Autoinflammatory syndrome
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever, autosomal dominant
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis

Criteria Provided
Conflicting Classifications

CA7860213

rs_758868622

5 SubmittersRCV000540246 RCV002263736 RCV003126798 RCV003126797 RCV002506300

NM_000243.3(MEFV):c.2163C>T (p.Phe721=)

SNV
Germline

Chr16:3243324

Conflicting classifications of pathogenicity

Condition: not provided
Familial Mediterranean fever
Autoinflammatory syndrome
Familial Mediterranean fever, autosomal dominant
Inborn genetic diseases
Acute febrile neutrophilic dermatosis

Criteria Provided
Conflicting Classifications

CA7859863

rs_11466047

8 SubmittersRCV000588308 RCV001083427 RCV002263740 RCV003126805 RCV002431547 RCV003126806

NM_000243.3(MEFV):c.1898C>T (p.Pro633Leu)

SNV
Germline

Chr16:3243589

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever, autosomal dominant

Criteria Provided
Conflicting Classifications

CA276955244

rs_976279218

4 SubmittersRCV000534641 RCV002490969 RCV003126804 RCV003126803

NM_000243.3(MEFV):c.1508C>G (p.Ser503Cys)

SNV
Germline

Chr16:3247095

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Condition: not provided
Autoinflammatory syndrome
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever, autosomal dominant

Criteria Provided
Conflicting Classifications

CA7860112

rs_190705322

9 SubmittersRCV000530643 RCV001775848 RCV002263738 RCV002490968 RCV003126802 RCV003126801

NM_000243.3(MEFV):c.1223G>T (p.Arg408Leu)

SNV
Germline

Chr16:3249468

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Autoinflammatory syndrome
Condition: not provided
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever, autosomal dominant
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis

Criteria Provided
Conflicting Classifications

CA394469353

rs_11466024

7 SubmittersRCV000532782 RCV002263737 RCV001591200 RCV003126800 RCV003126799 RCV002483374

NM_000243.3(MEFV):c.2271C>T (p.Ser757=)

SNV
Germline

Chr16:3243216

Conflicting classifications of pathogenicity

not specified
Familial Mediterranean fever
Condition: not provided
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis
MEFV-related disorder
Familial Mediterranean fever, autosomal dominant

Criteria Provided
Conflicting Classifications

CA7859844

rs_772754956

6 SubmittersRCV000589667 RCV000939022 RCV001811088 RCV003126835 RCV002483565 RCV004530641 RCV003126834

NM_000243.3(MEFV):c.1061G>A (p.Arg354Gln)

SNV
Germline

Chr16:3249630

Conflicting classifications of pathogenicity

Condition: not provided
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Autoinflammatory syndrome
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis
Acute febrile neutrophilic dermatosis

Criteria Provided
Conflicting Classifications

CA7860243

rs_763015849

7 SubmittersRCV000588244 RCV000632792 RCV001276301 RCV002263819 RCV002476271 RCV003126829

NM_000243.3(MEFV):c.1622T>C (p.Val541Ala)

SNV
Germline

Chr16:3244577

Conflicting classifications of pathogenicity

Condition: not provided
Familial Mediterranean fever
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever, autosomal dominant
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis

Criteria Provided
Conflicting Classifications

CA276896167

rs_922232615

4 SubmittersRCV000587448 RCV001829616 RCV003126833 RCV003126832 RCV002476273

NM_000243.3(MEFV):c.116G>A (p.Arg39Lys)

SNV
Germline

Chr16:3256472

Conflicting classifications of pathogenicity

Condition: not provided
Familial Mediterranean fever
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis

Criteria Provided
Conflicting Classifications

CA7860532

rs_141288548

5 SubmittersRCV000586069 RCV001045327 RCV002476272 RCV003126830 RCV003126831

NM_000243.3(MEFV):c.277+6C>T

SNV
Germline

Chr16:3256305

Conflicting classifications of pathogenicity

not specified
Familial Mediterranean fever
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Condition: not provided
MEFV-related disorder

Criteria Provided
Conflicting Classifications

CA7860488

rs_7199464

6 SubmittersRCV000606307 RCV000892020 RCV001280971 RCV003224349 RCV003736853 RCV004544786

NM_000243.3(MEFV):c.1092G>A (p.Pro364=)

SNV
Germline

Chr16:3249599

Conflicting classifications of pathogenicity

Condition: not provided
Familial Mediterranean fever
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever, autosomal dominant

Criteria Provided
Conflicting Classifications

CA7860235

rs_11466022

6 SubmittersRCV000756332 RCV001083401 RCV002499046 RCV003126886 RCV003126885

NM_000243.3(MEFV):c.1504G>A (p.Val502Ile)

SNV
Germline

Chr16:3247099

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever
Acute febrile neutrophilic dermatosis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7860114

rs_140462252

5 SubmittersRCV000632788 RCV003126879 RCV002507067 RCV003126880 RCV005231203

NM_000243.3(MEFV):c.1780C>T (p.Gln594Ter)

SNV
Germline

Chr16:3243872

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Condition: not provided
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever, autosomal dominant
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis

Criteria Provided
Conflicting Classifications

CA7859928

rs_780770024

4 SubmittersRCV000632791 RCV001815355 RCV003126882 RCV003126881 RCV002492960

NM_000243.3(MEFV):c.539C>T (p.Pro180Leu)

SNV
Germline

Chr16:3254529

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever, autosomal dominant
not specified

Criteria Provided
Conflicting Classifications

CA276902697

rs_104895134

4 SubmittersRCV000632793 RCV003126884 RCV003126883 RCV002469226

NM_000243.3(MEFV):c.311C>G (p.Ser104Cys)

SNV
Germline

Chr16:3254757

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever, autosomal dominant

Criteria Provided
Conflicting Classifications

CA7860459

rs_151306047

4 SubmittersRCV000701319 RCV002493230 RCV003126914 RCV003126913

NM_000243.3(MEFV):c.331G>A (p.Gly111Arg)

SNV
Germline

Chr16:3254737

Conflicting classifications of pathogenicity

Condition: not provided
Familial Mediterranean fever
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever, autosomal dominant
MEFV-related disorder
Acute febrile neutrophilic dermatosis

Criteria Provided
Conflicting Classifications

CA276903197

rs_112739451

6 SubmittersRCV000756333 RCV001201760 RCV002477737 RCV003126925 RCV004535889 RCV003126926

NM_000243.3(MEFV):c.250G>A (p.Glu84Lys)

SNV
Germline

Chr16:3256338

Conflicting classifications of pathogenicity

Familial Mediterranean fever
not specified
Familial Mediterranean fever, autosomal dominant
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis

Criteria Provided
Conflicting Classifications

CA7860493

rs_150819742

6 SubmittersRCV000779184 RCV001002344 RCV003465710 RCV005021164

NM_000243.3(MEFV):c.1643C>A (p.Thr548Asn)

SNV
Germline

Chr16:3244556

Conflicting classifications of pathogenicity

not specified
Autoinflammatory syndrome
Familial Mediterranean fever
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever, autosomal dominant
Condition: not provided

Criteria Provided
Conflicting Classifications

CA394458854

rs_550970304

6 SubmittersRCV000781531 RCV002263975 RCV000792803 RCV003126935 RCV003126934 RCV001555989

NM_000243.3(MEFV):c.1368A>C (p.Glu456Asp)

SNV
Germline

Chr16:3247235

Conflicting classifications of pathogenicity

not specified
Familial Mediterranean fever
Autoinflammatory syndrome
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis

Criteria Provided
Conflicting Classifications

CA394465166

rs_1567233429

4 SubmittersRCV000780408 RCV001825528 RCV002263973 RCV003126928 RCV003126929

NM_000243.3(MEFV):c.564C>G (p.Pro188=)

SNV
Germline

Chr16:3254504

Conflicting classifications of pathogenicity

Familial Mediterranean fever
not specified
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever, autosomal dominant

Criteria Provided
Conflicting Classifications

CA7860397

rs_775755423

3 SubmittersRCV001501166 RCV000781526 RCV003126933 RCV003126932

NM_000243.3(MEFV):c.239G>A (p.Arg80His)

SNV
Germline

Chr16:3256349

Conflicting classifications of pathogenicity

not specified
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever, autosomal dominant
Familial Mediterranean fever
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7860497

rs_201075710

7 SubmittersRCV000781524 RCV002487611 RCV003126931 RCV003126930 RCV001273730 RCV001561342

NM_000243.3(MEFV):c.2123G>A (p.Arg708His)

SNV
Germline

Chr16:3243364

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis
Acute febrile neutrophilic dermatosis
not specified

Criteria Provided
Conflicting Classifications

CA276955088

rs_200375017

5 SubmittersRCV000804253 RCV001274311 RCV002487716 RCV003127470 RCV003479222

NM_000243.3(MEFV):c.1735C>T (p.Arg579Cys)

SNV
Germline

Chr16:3244278

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Autoinflammatory syndrome
Condition: not provided
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever, autosomal dominant

Criteria Provided
Conflicting Classifications

CA7860009

rs_762605919

5 SubmittersRCV000795051 RCV002263985 RCV001776003 RCV003126938 RCV003126937

NM_000243.3(MEFV):c.1532C>T (p.Ala511Val)

SNV
Germline

Chr16:3247071

Conflicting classifications of pathogenicity

Familial Mediterranean fever
not specified
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever, autosomal dominant

Criteria Provided
Conflicting Classifications

CA7860107

rs_144270019

6 SubmittersRCV000801307 RCV001193207 RCV002501072 RCV003126940 RCV003126939

NM_000243.3(MEFV):c.1151T>C (p.Leu384Pro)

SNV
Germline

Chr16:3249540

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis

Criteria Provided
Conflicting Classifications

CA7860226

rs_139313647

5 SubmittersRCV000820957 RCV001281042 RCV002487836 RCV003127476 RCV003127477

NM_000243.3(MEFV):c.586G>C (p.Gly196Arg)

SNV
Germline

Chr16:3254482

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever, autosomal dominant

Criteria Provided
Conflicting Classifications

CA7860388

rs_104895179

4 SubmittersRCV000807223 RCV002487732 RCV003127472 RCV003127471

NM_000243.3(MEFV):c.536G>A (p.Ser179Asn)

SNV
Germline

Chr16:3254532

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Condition: not provided
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis

Criteria Provided
Conflicting Classifications

CA7860402

rs_104895125

10 SubmittersRCV000823143 RCV001507334 RCV003127478 RCV003127479 RCV005012379

NM_000243.3(MEFV):c.1770G>A (p.Leu590=)

SNV
Germline

Chr16:3243882

Conflicting classifications of pathogenicity

Condition: not provided
Familial Mediterranean fever
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever, autosomal dominant

Criteria Provided
Conflicting Classifications

CA7859932

rs_139692347

3 SubmittersRCV000828867 RCV001471489 RCV003127484 RCV003127483

NM_000243.3(MEFV):c.414A>T (p.Gly138=)

SNV
Germline

Chr16:3254654

Conflicting classifications of pathogenicity

Condition: not provided
Familial Mediterranean fever
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis
Acute febrile neutrophilic dermatosis
Inborn genetic diseases
Familial Mediterranean fever, autosomal dominant

Criteria Provided
Conflicting Classifications

CA7860432

rs_224224

6 SubmittersRCV000829179 RCV001088841 RCV002501163 RCV003127486 RCV004029209 RCV003127485

NM_000243.3(MEFV):c.48G>A (p.Leu16=)

SNV
Germline

Chr16:3256540

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Condition: not provided
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis
Inborn genetic diseases
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever, autosomal dominant

Criteria Provided
Conflicting Classifications

CA7860548

rs_777381107

6 SubmittersRCV000914758 RCV001655645 RCV002505350 RCV003307683 RCV003127546 RCV003127545

NM_000243.3(MEFV):c.1344A>C (p.Ala448=)

SNV
Germline

Chr16:3248921

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever, autosomal dominant
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis
not specified

Criteria Provided
Conflicting Classifications

CA7860177

rs_143337771

5 SubmittersRCV000939111 RCV003127550 RCV003127549 RCV002489258 RCV005236461

NM_000243.3(MEFV):c.456G>A (p.Gly152=)

SNV
Germline

Chr16:3254612

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis

Criteria Provided
Conflicting Classifications

CA7860422

rs_368333568

4 SubmittersRCV001417548 RCV002502861 RCV003127547 RCV003127548

NM_000243.3(MEFV):c.416C>A (p.Ala139Asp)

SNV
Germline

Chr16:3254652

Conflicting classifications of pathogenicity

Familial Mediterranean fever
not specified
Condition: not provided
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant

Criteria Provided
Conflicting Classifications

CA7860430

rs_575678784

5 SubmittersRCV000932960 RCV002307644 RCV005231975 RCV002505387

NM_000243.3(MEFV):c.231C>A (p.Ile77=)

SNV
Germline

Chr16:3256357

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Condition: not provided
Acute febrile neutrophilic dermatosis
MEFV-related disorder
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever, autosomal dominant
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA7860502

rs_139899201

7 SubmittersRCV000939112 RCV001655646 RCV003127552 RCV004543517 RCV002502875 RCV003127551 RCV005589924 RCV005236462

NM_000243.3(MEFV):c.1899G>A (p.Pro633=)

SNV
Germline

Chr16:3243588

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis

Criteria Provided
Conflicting Classifications

CA7859900

rs_776315170

4 SubmittersRCV000977151 RCV002503116 RCV003127559 RCV003127560

NM_000243.3(MEFV):c.2150G>T (p.Arg717Leu)

SNV
Germline

Chr16:3243337

Conflicting classifications of pathogenicity

Familial Mediterranean fever
not specified
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis

Criteria Provided
Conflicting Classifications

CA7859866

rs_545517350

6 SubmittersRCV000989472 RCV001002516 RCV002479155 RCV003127563 RCV003127564

NM_000243.3(MEFV):c.2150G>A (p.Arg717His)

SNV
Germline

Chr16:3243337

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever, autosomal dominant

Criteria Provided
Conflicting Classifications

CA276955068

rs_545517350

4 SubmittersRCV000989473 RCV002488080 RCV003127566 RCV003127565

NM_000243.3(MEFV):c.1895G>C (p.Gly632Ala)

SNV
Germline

Chr16:3243592

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever, autosomal dominant

Criteria Provided
Conflicting Classifications

CA276955246

rs_967990798

3 SubmittersRCV000989476 RCV003127568 RCV003127567

NM_000243.3(MEFV):c.1889C>T (p.Pro630Leu)

SNV
Germline

Chr16:3243598

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant

Criteria Provided
Conflicting Classifications

CA7859901

rs_376579860

6 SubmittersRCV000989477 RCV003127570 RCV003127569 RCV002489460

NM_000243.3(MEFV):c.1773T>G (p.Ile591Met)

SNV
Germline

Chr16:3243879

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever, autosomal dominant

Criteria Provided
Conflicting Classifications

CA7859930

rs_141706767

5 SubmittersRCV000989480 RCV003127572 RCV003127571

NM_000243.3(MEFV):c.1996A>T (p.Ile666Phe)

SNV
Germline

Chr16:3243491

Conflicting classifications of pathogenicity

not specified
Familial Mediterranean fever
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis

Criteria Provided
Conflicting Classifications

CA7859885

rs_387907566

5 SubmittersRCV001002108 RCV001827156 RCV002481799 RCV003127580 RCV003127581

NM_000243.3(MEFV):c.490A>C (p.Lys164Gln)

SNV
Germline

Chr16:3254578

Conflicting classifications of pathogenicity

not specified
Familial Mediterranean fever
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever, autosomal dominant

Criteria Provided
Conflicting Classifications

CA394481205

rs_1306636942

4 SubmittersRCV001002490 RCV001218918 RCV002505532 RCV003127583 RCV003127582

NM_000243.3(MEFV):c.2111T>G (p.Val704Gly)

SNV
Germline

Chr16:3243376

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis

Criteria Provided
Conflicting Classifications

CA7859873

rs_748891586

4 SubmittersRCV001048846 RCV002479296 RCV003127602 RCV003127603

NM_000243.3(MEFV):c.2065T>C (p.Trp689Arg)

SNV
Germline

Chr16:3243422

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever, autosomal dominant

Criteria Provided
Conflicting Classifications

CA7859880

rs_566082564

4 SubmittersRCV001065311 RCV002482093 RCV003127615 RCV003127614

NM_000243.3(MEFV):c.1681C>T (p.His561Tyr)

SNV
Germline

Chr16:3244518

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA276896126

rs_952604863

5 SubmittersRCV001071930 RCV002489718 RCV003127622 RCV003127623 RCV004950257

NM_000243.3(MEFV):c.1522C>G (p.Leu508Val)

SNV
Germline

Chr16:3247081

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Condition: not provided
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis
Acute febrile neutrophilic dermatosis

Criteria Provided
Conflicting Classifications

CA7860111

rs_199937453

5 SubmittersRCV001066615 RCV001274313 RCV001811638 RCV005021410 RCV003127618

NM_000243.3(MEFV):c.973G>A (p.Gly325Ser)

SNV
Germline

Chr16:3249718

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis

Criteria Provided
Conflicting Classifications

CA7860258

rs_146862274

4 SubmittersRCV001058593 RCV003127609 RCV002505619 RCV003127610

NM_000243.3(MEFV):c.828A>C (p.Glu276Asp)

SNV
Germline

Chr16:3254240

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis

Criteria Provided
Conflicting Classifications

CA7860319

rs_775020273

4 SubmittersRCV001052237 RCV002505600 RCV003127605 RCV003127606

NM_000243.3(MEFV):c.548C>T (p.Pro183Leu)

SNV
Germline

Chr16:3254520

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Inborn genetic diseases
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever, autosomal dominant

Criteria Provided
Conflicting Classifications

CA7860399

rs_777009752

6 SubmittersRCV001054872 RCV002348409 RCV002497422 RCV003127608 RCV003127607

NM_000243.3(MEFV):c.405C>G (p.Tyr135Ter)

SNV
Germline

Chr16:3254663

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis

Criteria Provided
Conflicting Classifications

CA7860439

rs_766323718

3 SubmittersRCV001065276 RCV002505642 RCV003127612 RCV003127613

NM_000243.3(MEFV):c.808A>G (p.Asn270Asp)

SNV
Germline

Chr16:3254260

Conflicting classifications of pathogenicity

Condition: not provided
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever

Criteria Provided
Conflicting Classifications

CA7860322

rs_753623518

3 SubmittersRCV001090251 RCV002489726 RCV003127626 RCV003127627 RCV003127625

NM_000243.3(MEFV):c.2068G>C (p.Val690Leu)

SNV
Germline

Chr16:3243419

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever, autosomal dominant
Familial Mediterranean fever
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever, autosomal dominant

Criteria Provided
Conflicting Classifications

CA394486275

rs_1281153557

3 SubmittersRCV001121251 RCV003127636 RCV002491374 RCV003127635

NM_000243.3(MEFV):c.1758T>C (p.Asn586=)

SNV
Germline

Chr16:3244255

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever, autosomal dominant
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7860006

rs_202228332

6 SubmittersRCV001116331 RCV003127634 RCV003127633 RCV004950295

NM_000243.3(MEFV):c.1105C>A (p.Pro369Thr)

SNV
Germline

Chr16:3249586

Conflicting classifications of pathogenicity

Familial Mediterranean fever
not specified
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever, autosomal dominant
Familial Mediterranean fever, autosomal dominant
Familial Mediterranean fever
Acute febrile neutrophilic dermatosis

Criteria Provided
Conflicting Classifications

CA7860232

rs_11466023

6 SubmittersRCV001121353 RCV001174702 RCV003127638 RCV003127637 RCV002482225

NM_000243.3(MEFV):c.730G>A (p.Glu244Lys)

SNV
Germline

Chr16:3254338

Pathogenic

Acute febrile neutrophilic dermatosis

No Assertion Criteria Provided

CA394478061

rs_1959081392

1 SubmittersRCV001174525

NM_000243.3(MEFV):c.1501C>T (p.Arg501Cys)

SNV
Germline

Chr16:3247102

Conflicting classifications of pathogenicity

not specified
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever, autosomal dominant
Familial Mediterranean fever

Criteria Provided
Conflicting Classifications

CA7860115

rs_104895101

4 SubmittersRCV001175537 RCV002505757 RCV003127674 RCV003127673 RCV001833735

NM_000243.3(MEFV):c.1324T>A (p.Ser442Thr)

SNV
Germline

Chr16:3248941

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever, autosomal dominant
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis

Criteria Provided
Conflicting Classifications

CA7860182

rs_779558690

4 SubmittersRCV001216264 RCV003127691 RCV003127690 RCV002480711

NM_000243.3(MEFV):c.574A>G (p.Arg192Gly)

SNV
Germline

Chr16:3254494

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Condition: not provided
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever, autosomal dominant

Criteria Provided
Conflicting Classifications

CA7860393

rs_745839954

4 SubmittersRCV001207798 RCV001812251 RCV003127683 RCV003127682

NM_000243.3(MEFV):c.1528G>A (p.Asp510Asn)

SNV
Germline

Chr16:3247075

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever, autosomal dominant

Criteria Provided
Conflicting Classifications

CA7860109

rs_200557537

7 SubmittersRCV001228467 RCV002504301 RCV003127706 RCV003127705

NM_000243.3(MEFV):c.566G>T (p.Gly189Val)

SNV
Germline

Chr16:3254502

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever, autosomal dominant
not specified

Criteria Provided
Conflicting Classifications

CA276902622

rs_923516953

4 SubmittersRCV001225884 RCV002497768 RCV003127700 RCV003127699 RCV004699215

NM_000243.3(MEFV):c.2117C>T (p.Pro706Leu)

SNV
Germline

Chr16:3243370

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever, autosomal dominant
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7859872

rs_202174893

5 SubmittersRCV001246070 RCV003127728 RCV002484375 RCV003127727 RCV004590277

NM_000243.3(MEFV):c.1352T>G (p.Phe451Cys)

SNV
Germline

Chr16:3248913

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Condition: not provided
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever, autosomal dominant

Criteria Provided
Conflicting Classifications

CA394467428

rs_1958986915

4 SubmittersRCV001238979 RCV001532318 RCV003127715 RCV003127714

NM_000243.3(MEFV):c.623G>C (p.Ser208Thr)

SNV
Germline

Chr16:3254445

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Autoinflammatory syndrome
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis
not specified

Criteria Provided
Conflicting Classifications

CA7860375

rs_759326778

4 SubmittersRCV001247261 RCV002264251 RCV003127733 RCV003127734 RCV003235515

NM_000243.3(MEFV):c.497C>T (p.Ser166Leu)

SNV
Germline

Chr16:3254571

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever, autosomal dominant
Condition: not provided
Acute febrile neutrophilic dermatosis

Criteria Provided
Conflicting Classifications

CA7860417

rs_766670643

6 SubmittersRCV001240669 RCV002480800 RCV003127719 RCV004590266 RCV003127720

NM_000243.3(MEFV):c.378G>T (p.Gly126=)

SNV
Germline

Chr16:3254690

Conflicting classifications of pathogenicity

not specified
Familial Mediterranean fever
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever, autosomal dominant

Criteria Provided
Conflicting Classifications

CA7860445

rs_777867857

4 SubmittersRCV001264477 RCV001339993 RCV003127741 RCV003127740

NM_000243.3(MEFV):c.1759+12G>A

SNV
Germline

Chr16:3244242

Conflicting classifications of pathogenicity

not specified
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant

Criteria Provided
Conflicting Classifications

CA7860002

rs_749730274

4 SubmittersRCV001280658 RCV002499490 RCV003127750 RCV003127748 RCV003127749

NM_000243.3(MEFV):c.342G>A (p.Lys114=)

SNV
Germline

Chr16:3254726

Conflicting classifications of pathogenicity

Condition: not provided
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis
Acute febrile neutrophilic dermatosis

Criteria Provided
Conflicting Classifications

CA276903173

rs_981883034

5 SubmittersRCV001812486 RCV001835362 RCV003127754 RCV002499494 RCV003127755

NM_000243.3(MEFV):c.202C>T (p.Gln68Ter)

SNV
Germline

Chr16:3256386

Conflicting classifications of pathogenicity

Condition: not provided
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant

Criteria Provided
Conflicting Classifications

CA7860509

rs_768473920

3 SubmittersRCV001813117 RCV002493511 RCV003127758 RCV003127756 RCV003127757

NM_000243.3(MEFV):c.520A>G (p.Lys174Glu)

SNV
Germline

Chr16:3254548

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever, autosomal dominant

Criteria Provided
Conflicting Classifications

CA394480989

rs_777199024

3 SubmittersRCV001303574 RCV003127777 RCV002486172 RCV003127776

NM_000243.3(MEFV):c.475A>G (p.Ser159Gly)

SNV
Germline

Chr16:3254593

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever, autosomal dominant

Criteria Provided
Conflicting Classifications

CA276902835

rs_797001768

4 SubmittersRCV001309521 RCV002476432 RCV003127789 RCV003127788

NM_000243.3(MEFV):c.319T>G (p.Ser107Ala)

SNV
Germline

Chr16:3254749

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis

Criteria Provided
Conflicting Classifications

CA7860457

rs_756029520

4 SubmittersRCV001307126 RCV002476413 RCV003127786 RCV003127787

NM_000243.3(MEFV):c.199G>A (p.Val67Met)

SNV
Germline

Chr16:3256389

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis
Acute febrile neutrophilic dermatosis
Condition: not provided
Familial Mediterranean fever, autosomal dominant

Criteria Provided
Conflicting Classifications

CA394483782

rs_1422054832

4 SubmittersRCV001871759 RCV002476438 RCV003127791 RCV001310311 RCV003127790

NM_000243.3(MEFV):c.839G>A (p.Arg280Lys)

SNV
Germline

Chr16:3254229

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Autoinflammatory syndrome
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever, autosomal dominant

Criteria Provided
Conflicting Classifications

CA394476954

rs_1437746739

4 SubmittersRCV001339143 RCV002264271 RCV003127815 RCV003127814

NM_000243.3(MEFV):c.1957C>A (p.Arg653Ser)

SNV
Germline

Chr16:3243530

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever, autosomal dominant

Criteria Provided
Conflicting Classifications

CA394487420

rs_375716505

3 SubmittersRCV001372413 RCV002488177 RCV003127849 RCV003127848

NM_000243.3(MEFV):c.268G>C (p.Ala90Pro)

SNV
Germline

Chr16:3256320

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever, autosomal dominant

Criteria Provided
Conflicting Classifications

CA276904292

rs_376971129

4 SubmittersRCV001360070 RCV002504590 RCV003127833 RCV003127832

NM_000243.3(MEFV):c.149C>T (p.Pro50Leu)

SNV
Germline

Chr16:3256439

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever, autosomal dominant
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis

Criteria Provided
Conflicting Classifications

CA7860525

rs_144716190

4 SubmittersRCV001374636 RCV003127857 RCV003127856 RCV002488189

NM_000243.3(MEFV):c.1677C>T (p.Leu559=)

SNV
Germline

Chr16:3244522

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Inborn genetic diseases
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis

Criteria Provided
Conflicting Classifications

CA7860040

rs_144672997

3 SubmittersRCV001476425 RCV002405127 RCV003127953 RCV003127954

NM_000243.3(MEFV):c.1533G>A (p.Ala511=)

SNV
Germline

Chr16:3247070

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
not specified

Criteria Provided
Conflicting Classifications

CA7860106

rs_771061550

4 SubmittersRCV001453535 RCV003127922 RCV003127921 RCV002506530 RCV005237825

NM_000243.3(MEFV):c.765A>G (p.Ala255=)

SNV
Germline

Chr16:3254303

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever, autosomal dominant

Criteria Provided
Conflicting Classifications

CA7860333

rs_771714168

3 SubmittersRCV001477286 RCV002501648 RCV003127956 RCV003127955

NM_000243.3(MEFV):c.1401G>A (p.Glu467=)

SNV
Germline

Chr16:3247202

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis

Criteria Provided
Conflicting Classifications

CA493383854

rs_1398639205

3 SubmittersRCV001500707 RCV002495762 RCV003127975 RCV003127976

NM_000243.3(MEFV):c.1005C>T (p.Pro335=)

SNV
Germline

Chr16:3249686

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Inborn genetic diseases
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever, autosomal dominant

Criteria Provided
Conflicting Classifications

CA7860254

rs_567739580

3 SubmittersRCV001486338 RCV002414178 RCV003127962 RCV003127961

NM_000243.3(MEFV):c.192G>A (p.Glu64=)

SNV
Germline

Chr16:3256396

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever, autosomal dominant
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7860513

rs_547393490

4 SubmittersRCV001486689 RCV002495726 RCV003127964 RCV003127963 RCV002414179

NM_000243.3(MEFV):c.1510C>T (p.Gln504Ter)

SNV
Unknown

Chr16:3247093

Pathogenic

Acute febrile neutrophilic dermatosis
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant

Criteria Provided
Single Submitter

CA276897352

rs_886082025

1 SubmittersRCV001535884

NM_000243.3(MEFV):c.431G>A (p.Cys144Tyr)

SNV
Germline

Chr16:3254637

Conflicting classifications of pathogenicity

Condition: not provided
Familial Mediterranean fever
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever, autosomal dominant

Criteria Provided
Conflicting Classifications

CA7860427

rs_773320625

5 SubmittersRCV001549976 RCV001827457 RCV003127990 RCV003127989

NM_000243.3(MEFV):c.656G>A (p.Gly219Asp)

SNV
Germline

Chr16:3254412

Conflicting classifications of pathogenicity

Condition: not provided
Familial Mediterranean fever
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever, autosomal dominant

Criteria Provided
Conflicting Classifications

CA7860360

rs_752973530

3 SubmittersRCV001757430 RCV003125901 RCV002503238 RCV003125903 RCV003125902

NM_000243.3(MEFV):c.1024C>T (p.Pro342Ser)

SNV
Germline

Chr16:3249667

Conflicting classifications of pathogenicity

Familial Mediterranean fever, autosomal dominant
Condition: not provided
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever

Criteria Provided
Conflicting Classifications

CA276898954

rs_774397209

3 SubmittersRCV003125904 RCV001779667 RCV003125905 RCV001868828

NM_000243.3(MEFV):c.2287G>A (p.Gly763Arg)

SNV
Germline

Chr16:3243200

Conflicting classifications of pathogenicity

Acute febrile neutrophilic dermatosis
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant

Criteria Provided
Conflicting Classifications

CA394484611

rs_2141664466

3 SubmittersRCV003125906 RCV001885199 RCV001785241

NM_000243.3(MEFV):c.1130G>A (p.Arg377His)

SNV
Germline

Chr16:3249561

Conflicting classifications of pathogenicity

Condition: not provided
Familial Mediterranean fever
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever, autosomal dominant

Criteria Provided
Conflicting Classifications

CA7860228

rs_144998416

3 SubmittersRCV001816168 RCV001869640 RCV003125914 RCV003125913

NM_000243.3(MEFV):c.985C>T (p.Arg329Cys)

SNV
Germline

Chr16:3249706

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA276899005

rs_757216434

4 SubmittersRCV001897894 RCV003125953 RCV002482663 RCV003125954 RCV005590153

NM_000243.3(MEFV):c.1685A>G (p.Gln562Arg)

SNV
Germline

Chr16:3244514

Conflicting classifications of pathogenicity

Acute febrile neutrophilic dermatosis
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Familial Mediterranean fever, autosomal dominant
Familial Mediterranean fever
Acute febrile neutrophilic dermatosis

Criteria Provided
Conflicting Classifications

CA276896123

rs_1033941048

3 SubmittersRCV002507721 RCV003126049 RCV001990757 RCV003126050

NM_000243.3(MEFV):c.2078T>C (p.Met693Thr)

SNV
Germline

Chr16:3243409

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever, autosomal dominant

Criteria Provided
Conflicting Classifications

CA394486148

rs_749052818

3 SubmittersRCV001974306 RCV003126062 RCV002492214 RCV003126061

NM_000243.3(MEFV):c.608T>C (p.Leu203Pro)

SNV
Germline

Chr16:3254460

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Autoinflammatory syndrome
Acute febrile neutrophilic dermatosis

Criteria Provided
Conflicting Classifications

CA394479140

rs_1959084389

3 SubmittersRCV001995528 RCV003126069 RCV002264442 RCV003126070

NM_000243.3(MEFV):c.68A>G (p.Lys23Arg)

SNV
Germline

Chr16:3256520

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever, autosomal dominant
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis

Criteria Provided
Conflicting Classifications

CA7860541

rs_754679070

4 SubmittersRCV001896285 RCV003125958 RCV003125957 RCV002506976

NM_000243.3(MEFV):c.933G>A (p.Ala311=)

SNV
Germline

Chr16:3249758

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever, autosomal dominant

Criteria Provided
Conflicting Classifications

CA7860271

rs_774547197

3 SubmittersRCV002208387 RCV003126200 RCV002502028 RCV003126199

NM_000243.3(MEFV):c.426G>C (p.Leu142=)

SNV
Germline

Chr16:3254642

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Acute febrile neutrophilic dermatosis
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Familial Mediterranean fever, autosomal dominant

Criteria Provided
Conflicting Classifications

CA493384357

rs_1465332482

3 SubmittersRCV002113550 RCV003126159 RCV002499997 RCV003126158

NM_000243.3(MEFV):c.1485G>A (p.Arg495=)

SNV
Germline

Chr16:3247118

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Inborn genetic diseases
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever, autosomal dominant

Criteria Provided
Conflicting Classifications

CA276897378

rs_1012455878

3 SubmittersRCV002137932 RCV002391317 RCV003126183 RCV003126182

NM_000243.3(MEFV):c.298G>C (p.Gly100Arg)

SNV
Germline

Chr16:3254770

Conflicting classifications of pathogenicity

Autoinflammatory syndrome
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever, autosomal dominant
Familial Mediterranean fever
Acute febrile neutrophilic dermatosis

Criteria Provided
Conflicting Classifications

CA7860462

rs_772332566

4 SubmittersRCV002262060 RCV002502075 RCV003126208 RCV003095938 RCV003126209