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 9 conditions Familial Mediterranean fever, autosomal dominant 8 conditions Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Autoinflammatory syndrome Acute febrile neutrophilic dermatosis Inborn genetic diseases Recurrent fever MEFV-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA280091	rs_61752717	48 SubmittersRCV000002647 RCV000216751 RCV000763381 RCV000735306 RCV001028046 RCV000735284 RCV001535935 RCV002262539 RCV001197704 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	Criteria Provided Multiple Submitters No Conflicts	CA280093	rs_28940578	35 SubmittersRCV000002648 RCV000220431 RCV000589706 RCV000763380 RCV002262540 RCV004528066
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 Familial Mediterranean fever, autosomal dominant Inborn genetic diseases Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Autoinflammatory syndrome	Criteria Provided Multiple Submitters No Conflicts	CA280095	rs_28940579	47 SubmittersRCV000002649 RCV000220654 RCV000515437 RCV000984975 RCV000623003 RCV001535867 RCV002262541
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 Familial Mediterranean fever, autosomal dominant 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	Criteria Provided Conflicting Classifications	CA280097	rs_3743930	32 SubmittersRCV000002651 RCV000218652 RCV000513398 RCV000768024 RCV000761446 RCV002326658 RCV002251861 RCV002262542 RCV003224086 RCV004528067
NM_000243.3(MEFV):c.501G>C (p.Glu167Asp)	SNV Germline	Chr16:3254567	Conflicting classifications of pathogenicity	Familial Mediterranean fever Condition: not provided Familial Mediterranean fever, autosomal dominant not specified Autoinflammatory syndrome	Criteria Provided Conflicting Classifications	CA280099	rs_104895079	16 SubmittersRCV000002652 RCV000588525 RCV001262294 RCV003230342 RCV002262543
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	Criteria Provided Conflicting Classifications	CA280101	rs_104895081	16 SubmittersRCV000002653 RCV000991330 RCV000996177 RCV001535446 RCV002262544 RCV004532273
NM_000243.3(MEFV):c.1437C>G (p.Phe479Leu)	SNV Germline	Chr16:3247166	Conflicting classifications of pathogenicity	Familial Mediterranean fever Condition: not provided not specified Familial Mediterranean fever, autosomal dominant Autoinflammatory syndrome	Criteria Provided Conflicting Classifications	CA280103	rs_104895083	17 SubmittersRCV000002654 RCV000508324 RCV003230343 RCV003466786 RCV002262545
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg)	SNV Germline	Chr16:3243403	Conflicting classifications of pathogenicity	Familial Mediterranean fever Condition: not provided Inborn genetic diseases 6 conditions Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant not specified Abnormal cardiovascular system morphology Heart, malformation of Renal insufficiency Familial Mediterranean fever, autosomal dominant Autoinflammatory syndrome Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant	Criteria Provided Conflicting Classifications	CA280105	rs_104895094	33 SubmittersRCV000002656 RCV000213470 RCV000622573 RCV000415431 RCV000768021 RCV000508192 RCV001270033 RCV003389035 RCV002262546 RCV003224087
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 Familial Mediterranean fever, autosomal dominant Inborn genetic diseases Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant MEFV-related disorder Autoinflammatory syndrome	Criteria Provided Conflicting Classifications	CA280107	rs_61732874	35 SubmittersRCV000002657 RCV000213702 RCV000768020 RCV000999738 RCV001770031 RCV002415388 RCV001535864 RCV004532274 RCV002262547
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	Criteria Provided Multiple Submitters No Conflicts	CA280110	rs_104895097	30 SubmittersRCV000002658 RCV000217233 RCV000763379 RCV001536101 RCV002262548 RCV002512683 RCV003466787
NM_000243.3(MEFV):c.2040G>A (p.Met680Ile)	SNV Germline	Chr16:3243447	Pathogenic	Familial Mediterranean fever Condition: not provided Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Familial Mediterranean fever, autosomal dominant Autoinflammatory syndrome	Criteria Provided Multiple Submitters No Conflicts	CA280112	rs_28940580	20 SubmittersRCV000002659 RCV000216518 RCV001269325 RCV001283820 RCV002262549
NM_000243.3(MEFV):c.1105C>T (p.Pro369Ser)	SNV Germline	Chr16:3249586	Conflicting classifications of pathogenicity	Familial Mediterranean fever Condition: not provided not specified Autoinflammatory syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA280114	rs_11466023	20 SubmittersRCV000002660 RCV000416092 RCV000215679 RCV002262550 RCV002433442
NM_000243.3(MEFV):c.1223G>A (p.Arg408Gln)	SNV Germline	Chr16:3249468	Conflicting classifications of pathogenicity	Familial Mediterranean fever not specified Condition: not provided Autoinflammatory syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA280116	rs_11466024	19 SubmittersRCV000002661 RCV000218029 RCV000224408 RCV002262551 RCV002362552
NM_000243.3(MEFV):c.1958G>A (p.Arg653His)	SNV Germline	Chr16:3243529	Conflicting classifications of pathogenicity	Familial Mediterranean fever Condition: not provided Familial Mediterranean fever, autosomal dominant	Criteria Provided Conflicting Classifications	CA280118	rs_104895085	13 SubmittersRCV000002662 RCV000255083 RCV003466788
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 Familial Mediterranean fever, autosomal dominant Autoinflammatory syndrome Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis	Criteria Provided Conflicting Classifications	CA280120	rs_104895076	12 SubmittersRCV000002663 RCV000216721 RCV000415966 RCV002482818 RCV002262552 RCV003125825 RCV003125826
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 Condition: not provided not specified Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Autoinflammatory syndrome Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant	Criteria Provided Conflicting Classifications	CA280244	rs_104895137	9 SubmittersRCV000030170 RCV001705603 RCV001000668 RCV001280974 RCV002262578 RCV003224107
NM_000243.3(MEFV):c.1318C>G (p.Gln440Glu)	SNV Germline	Chr16:3248947	Conflicting classifications of pathogenicity	Condition: not provided Familial Mediterranean fever not specified Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant 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 RCV000989483 RCV001526854 RCV001281041 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 Condition: not provided Autoinflammatory syndrome Familial Mediterranean fever, autosomal dominant Inborn genetic diseases Acute febrile neutrophilic dermatosis	Criteria Provided Conflicting Classifications	CA280251	rs_76464258	11 SubmittersRCV000030173 RCV000251198 RCV001689576 RCV002262581 RCV003125839 RCV002390122 RCV003125840
NM_000243.3(MEFV):c.1518C>T (p.Ile506=)	SNV Germline	Chr16:3247085	Conflicting classifications of pathogenicity	Familial Mediterranean fever not specified Condition: not provided Autoinflammatory syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA280254	rs_104895099	12 SubmittersRCV000030174 RCV000126736 RCV001532317 RCV002262582 RCV002390123
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 Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis	Criteria Provided Conflicting Classifications	CA280263	rs_11466045	14 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 Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Autoinflammatory syndrome See cases Familial Mediterranean fever, autosomal dominant Inborn genetic diseases Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis	Criteria Provided Multiple Submitters No Conflicts	CA280267	rs_28940580	36 SubmittersRCV000030179 RCV000222364 RCV000515335 RCV001197705 RCV002262586 RCV002251932 RCV002254152 RCV002415433 RCV002477026
NM_000243.3(MEFV):c.2118G>A (p.Pro706=)	SNV Germline	Chr16:3243369	Conflicting classifications of pathogenicity	Familial Mediterranean fever not specified Condition: not provided Familial Mediterranean fever, autosomal dominant Inborn genetic diseases Autoinflammatory syndrome	Criteria Provided Conflicting Classifications	CA280268	rs_2234939	14 SubmittersRCV000030181 RCV000250856 RCV001705606 RCV001731318 RCV002415434 RCV002262587
NM_000243.3(MEFV):c.910G>A (p.Gly304Arg)	SNV Germline	Chr16:3254158	Conflicting classifications of pathogenicity	Familial Mediterranean fever Condition: not provided not specified Autoinflammatory syndrome MEFV-related disorder	Criteria Provided Conflicting Classifications	CA280280	rs_75977701	14 SubmittersRCV000030186 RCV000414140 RCV000508393 RCV002262592 RCV004532422
NM_000243.3(MEFV):c.941G>A (p.Arg314His)	SNV Germline	Chr16:3249750	Conflicting classifications of pathogenicity	Familial Mediterranean fever Condition: not provided Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis	Criteria Provided Conflicting Classifications	CA280283	rs_104895204	7 SubmittersRCV000030187 RCV003480037 RCV003125843 RCV003125844
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 not specified Familial Mediterranean fever, autosomal dominant 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 RCV001290446 RCV001276303 RCV002262594 RCV003224110
NM_000243.3(MEFV):c.2060G>A (p.Gly687Asp)	SNV Germline/somatic	Chr16:3243427	Conflicting classifications of pathogenicity	Familial Mediterranean fever Condition: not provided	Criteria Provided Conflicting Classifications	CA280323	rs_387907570	4 SubmittersRCV000049558 RCV000216370
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	Criteria Provided Conflicting Classifications	CA280349	rs_147557169	7 SubmittersRCV000083246 RCV000221844 RCV001193206 RCV002262627
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 Autoinflammatory syndrome	Criteria Provided Conflicting Classifications	CA280361	rs_104895198	8 SubmittersRCV000083679 RCV000417776 RCV000755567 RCV002262629
NM_000243.3(MEFV):c.1056C>T (p.Cys352=)	SNV Germline	Chr16:3249635	Conflicting classifications of pathogenicity	Familial Mediterranean fever See cases	Criteria Provided Conflicting Classifications	CA280364	rs_104895164	3 SubmittersRCV000083680 RCV002251974
NM_000243.3(MEFV):c.1060C>T (p.Arg354Trp)	SNV Germline	Chr16:3249631	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 Condition: not provided	Criteria Provided Conflicting Classifications	CA280367	rs_104895116	7 SubmittersRCV000083681 RCV003126416 RCV003126415 RCV002483159 RCV003480054
NM_000243.3(MEFV):c.1089C>T (p.Ser363=)	SNV Germline	Chr16:3249602	Conflicting classifications of pathogenicity	Familial Mediterranean fever not specified Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant	Criteria Provided Conflicting Classifications	CA280370	rs_104895170	4 SubmittersRCV000083682 RCV000615290 RCV003126418 RCV003126417
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 not specified 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	CA280379	rs_104895082	6 SubmittersRCV000083685 RCV001192541 RCV002490735 RCV003126421 RCV003126422
NM_000243.3(MEFV):c.1245C>T (p.Val415=)	SNV Germline	Chr16:3249446	Conflicting classifications of pathogenicity	Familial Mediterranean fever not specified Condition: not provided Autoinflammatory syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA280382	rs_104895195	11 SubmittersRCV000083686 RCV000590208 RCV000877404 RCV002262631 RCV002390249
NM_000243.3(MEFV):c.1261-11T>G	SNV Germline	Chr16:3249015	Conflicting classifications of pathogenicity	Familial Mediterranean fever not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA280387	rs_77086855	5 SubmittersRCV000083689 RCV000428464 RCV001537822
NM_000243.3(MEFV):c.1261-28A>G	SNV Germline	Chr16:3249032	Conflicting classifications of pathogenicity	Familial Mediterranean fever Central core myopathy Condition: not provided Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis	Criteria Provided Conflicting Classifications	CA280388	rs_104895140	6 SubmittersRCV000083690 RCV001258254 RCV001711585 RCV003126423 RCV003126424
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 Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis	Criteria Provided Conflicting Classifications	CA280392	rs_104895151	9 SubmittersRCV000083692 RCV000512979 RCV000855597 RCV001280972 RCV003224140
NM_000243.3(MEFV):c.1405G>T (p.Val469Leu)	SNV Germline	Chr16:3247198	Conflicting classifications of pathogenicity	Familial Mediterranean fever not specified Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant	Criteria Provided Conflicting Classifications	CA280395	rs_104895173	4 SubmittersRCV000083693 RCV001553681 RCV003126426 RCV003126425
NM_000243.3(MEFV):c.1459G>A (p.Val487Met)	SNV Germline	Chr16:3247144	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	CA280403	rs_104895100	6 SubmittersRCV000083697 RCV002477245 RCV003126428 RCV003126427
NM_000243.3(MEFV):c.1467G>A (p.Gln489=)	SNV Germline	Chr16:3247136	Conflicting classifications of pathogenicity	Familial Mediterranean fever not specified Condition: not provided Autoinflammatory syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA280406	rs_61732424	12 SubmittersRCV000083698 RCV000126746 RCV000590572 RCV002262632 RCV002390250
NM_000243.3(MEFV):c.1501C>G (p.Arg501Gly)	SNV Germline	Chr16:3247102	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	CA280409	rs_104895101	5 SubmittersRCV000083699 RCV002483160 RCV003126429 RCV003126430
NM_000243.3(MEFV):c.1502G>A (p.Arg501His)	SNV Germline	Chr16:3247101	Conflicting classifications of pathogenicity	Familial Mediterranean fever not specified Autoinflammatory syndrome	Criteria Provided Conflicting Classifications	CA280412	rs_104895196	4 SubmittersRCV000083700 RCV001192542 RCV002262633
NM_000243.3(MEFV):c.1538T>C (p.Ile513Thr)	SNV Germline	Chr16:3247065	Conflicting classifications of pathogenicity	Familial Mediterranean fever Condition: not provided Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant	Criteria Provided Conflicting Classifications	CA280418	rs_104895199	4 SubmittersRCV000083702 RCV001753485 RCV003126432 RCV003126431
NM_000243.3(MEFV):c.1744A>C (p.Met582Leu)	SNV Germline	Chr16:3244269	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 Autoinflammatory syndrome not specified	Criteria Provided Conflicting Classifications	CA280431	rs_104895165	8 SubmittersRCV000083708 RCV002483161 RCV003126434 RCV003126433 RCV002262634 RCV003488380
NM_000243.3(MEFV):c.1760-4G>A	SNV Germline	Chr16:3243896	Conflicting classifications of pathogenicity	Familial Mediterranean fever not specified Condition: not provided Autoinflammatory syndrome	Criteria Provided Conflicting Classifications	CA280436	rs_79662406	11 SubmittersRCV000083710 RCV000246189 RCV001572991 RCV002262635
NM_000243.3(MEFV):c.1776C>T (p.Gly592=)	SNV Germline	Chr16:3243876	Conflicting classifications of pathogenicity	Familial Mediterranean fever Condition: not provided	Criteria Provided Conflicting Classifications	CA280438	rs_104895161	3 SubmittersRCV000083711 RCV000285170
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 not specified Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant	Criteria Provided Conflicting Classifications	CA280456	rs_104895135	6 SubmittersRCV000083718 RCV000834990 RCV001797624 RCV003126438 RCV003126437
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 Condition: not provided Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Familial Mediterranean fever, autosomal dominant	Criteria Provided Conflicting Classifications	CA280459	rs_104895128	11 SubmittersRCV000083719 RCV000763382 RCV001811392 RCV003224141 RCV003447490
NM_000243.3(MEFV):c.1956C>A (p.Arg652=)	SNV Germline	Chr16:3243531	Conflicting classifications of pathogenicity	Familial Mediterranean fever Autoinflammatory syndrome	Criteria Provided Conflicting Classifications	CA280472	rs_104895084	3 SubmittersRCV000083725 RCV002262637
NM_000243.3(MEFV):c.195C>T (p.Tyr65=)	SNV Germline	Chr16:3256393	Conflicting classifications of pathogenicity	Familial Mediterranean fever not specified Condition: not provided Autoinflammatory syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA280475	rs_104895077	9 SubmittersRCV000083726 RCV000587862 RCV001705807 RCV002262638 RCV003352768
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, autosomal dominant Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Acute febrile neutrophilic dermatosis	Criteria Provided Conflicting Classifications	CA280485	rs_104895087	4 SubmittersRCV000083730 RCV000768022 RCV003126439 RCV003224142 RCV003126440
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, autosomal dominant Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis	Criteria Provided Conflicting Classifications	CA280487	rs_104895088	7 SubmittersRCV000083731 RCV000414076 RCV003126441 RCV003126442 RCV002498439
NM_000243.3(MEFV):c.2038A>C (p.Met680Leu)	SNV Germline	Chr16:3243449	Conflicting classifications of pathogenicity	Familial Mediterranean fever	Criteria Provided Conflicting Classifications	CA280489	rs_104895089	3 SubmittersRCV000083732
NM_000243.3(MEFV):c.2049G>A (p.Ser683=)	SNV Germline	Chr16:3243438	Conflicting classifications of pathogenicity	Familial Mediterranean fever not specified Condition: not provided Inborn genetic diseases Autoinflammatory syndrome	Criteria Provided Conflicting Classifications	CA280493	rs_104895092	9 SubmittersRCV000083734 RCV001000131 RCV001705808 RCV002415584 RCV002262639
NM_000243.3(MEFV):c.2085G>C (p.Lys695Asn)	SNV Germline	Chr16:3243402	Conflicting classifications of pathogenicity	Familial Mediterranean fever not specified	Criteria Provided Conflicting Classifications	CA280514	rs_104895208	3 SubmittersRCV000083742 RCV001001442
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	Criteria Provided Conflicting Classifications	CA280523	rs_104895118	6 SubmittersRCV000083745 RCV001539987 RCV002498440 RCV003126446 RCV003126445
NM_000243.3(MEFV):c.2110G>A (p.Val704Ile)	SNV Germline	Chr16:3243377	Conflicting classifications of pathogenicity	Familial Mediterranean fever Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant	Criteria Provided Conflicting Classifications	CA280526	rs_104895096	4 SubmittersRCV000083746 RCV003126448 RCV003126447
NM_000243.3(MEFV):c.2122C>T (p.Arg708Cys)	SNV Germline	Chr16:3243365	Conflicting classifications of pathogenicity	Familial Mediterranean fever not specified Acute febrile neutrophilic dermatosis Autoinflammatory syndrome Familial Mediterranean fever, autosomal dominant	Criteria Provided Conflicting Classifications	CA280530	rs_104895202	7 SubmittersRCV000083748 RCV000780404 RCV003126450 RCV002262641 RCV003126449
NM_000243.3(MEFV):c.2160C>G (p.Ile720Met)	SNV Germline	Chr16:3243327	Conflicting classifications of pathogenicity	Familial Mediterranean fever not specified Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant MEFV-related disorder	Criteria Provided Conflicting Classifications	CA280539	rs_104895102	9 SubmittersRCV000083751 RCV000780406 RCV003126452 RCV003126451 RCV004529874
NM_000243.3(MEFV):c.2164G>A (p.Val722Met)	SNV Germline	Chr16:3243323	Conflicting classifications of pathogenicity	Familial Mediterranean fever not specified Condition: not provided Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant	Criteria Provided Conflicting Classifications	CA280541	rs_104895201	9 SubmittersRCV000083752 RCV001175016 RCV001701661 RCV003126454 RCV003126453
NM_000243.3(MEFV):c.2169C>T (p.Asp723=)	SNV Germline	Chr16:3243318	Conflicting classifications of pathogenicity	Familial Mediterranean fever not specified Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis	Criteria Provided Conflicting Classifications	CA280544	rs_104895117	4 SubmittersRCV000083753 RCV000780403 RCV003126455 RCV003126456
NM_000243.3(MEFV):c.2229C>G (p.Phe743Leu)	SNV Germline	Chr16:3243258	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	CA280550	rs_104895152	7 SubmittersRCV000083755 RCV003126457 RCV003133133 RCV002483162 RCV003126458
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 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	CA280561	rs_104895194	6 SubmittersRCV000083759 RCV001562685 RCV002483163 RCV003126462 RCV003126461
NM_000243.3(MEFV):c.2314A>G (p.Ile772Val)	SNV Germline	Chr16:3243173	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 Acute febrile neutrophilic dermatosis	Criteria Provided Conflicting Classifications	CA280566	rs_104895163	7 SubmittersRCV000083761 RCV000223191 RCV002498442 RCV003126463 RCV003126464
NM_000243.3(MEFV):c.2337G>C (p.Gly779=)	SNV Germline	Chr16:3243150	Conflicting classifications of pathogenicity	Familial Mediterranean fever Condition: not provided Inborn genetic diseases Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant	Criteria Provided Conflicting Classifications	CA280569	rs_104895153	7 SubmittersRCV000083762 RCV001704008 RCV002444555 RCV003126466 RCV003126465
NM_000243.3(MEFV):c.2338C>A (p.Pro780Thr)	SNV Germline	Chr16:3243149	Conflicting classifications of pathogenicity	Familial Mediterranean fever Condition: not provided Autoinflammatory syndrome Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant not specified	Criteria Provided Conflicting Classifications	CA280572	rs_104895154	10 SubmittersRCV000083763 RCV000217446 RCV002262642 RCV003126468 RCV003126467 RCV002298469
NM_000243.3(MEFV):c.265G>A (p.Ala89Thr)	SNV Germline	Chr16:3256323	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 not specified	Criteria Provided Conflicting Classifications	CA280577	rs_104895124	6 SubmittersRCV000083765 RCV002483164 RCV003126470 RCV003126469 RCV002281918
NM_000243.3(MEFV):c.297C>T (p.Asn99=)	SNV Germline	Chr16:3254771	Conflicting classifications of pathogenicity	Familial Mediterranean fever not specified Familial Mediterranean fever, autosomal dominant Condition: not provided Autoinflammatory syndrome Inborn genetic diseases MEFV-related disorder	Criteria Provided Conflicting Classifications	CA280580	rs_104895175	10 SubmittersRCV000083766 RCV000588269 RCV001276302 RCV001705809 RCV002262643 RCV002433593 RCV004542800
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 Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Familial Mediterranean fever, autosomal dominant	Criteria Provided Conflicting Classifications	CA280583	rs_104895103	13 SubmittersRCV000083767 RCV000586697 RCV001000180 RCV002262644 RCV002321581 RCV003126472 RCV002477246 RCV003126471
NM_000243.3(MEFV):c.330G>A (p.Leu110=)	SNV Germline	Chr16:3254738	Conflicting classifications of pathogenicity	Familial Mediterranean fever not specified	Criteria Provided Conflicting Classifications	CA280585	rs_104895177	4 SubmittersRCV000083768 RCV001175450
NM_000243.3(MEFV):c.372C>T (p.Pro124=)	SNV Germline	Chr16:3254696	Conflicting classifications of pathogenicity	Familial Mediterranean fever not specified Condition: not provided Autoinflammatory syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA280592	rs_104895078	10 SubmittersRCV000083771 RCV000507322 RCV001705810 RCV002262646 RCV002345406
NM_000243.3(MEFV):c.422G>T (p.Ser141Ile)	SNV Germline	Chr16:3254646	Conflicting classifications of pathogenicity	Familial Mediterranean fever Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant not specified	Criteria Provided Conflicting Classifications	CA280601	rs_104895130	5 SubmittersRCV000083774 RCV003126476 RCV003126475 RCV002509206
NM_000243.3(MEFV):c.524C>A (p.Pro175His)	SNV Germline	Chr16:3254544	Conflicting classifications of pathogenicity	Familial Mediterranean fever Condition: not provided Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Autoinflammatory syndrome Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant	Criteria Provided Conflicting Classifications	CA280615	rs_104895126	7 SubmittersRCV000083779 RCV001588911 RCV002490736 RCV002262647 RCV003126478 RCV003126477
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.586G>T (p.Gly196Trp)	SNV Germline	Chr16:3254482	Conflicting classifications of pathogenicity	Familial Mediterranean fever not specified Condition: not provided Familial Mediterranean fever, autosomal dominant Autoinflammatory syndrome MEFV-related disorder	Criteria Provided Conflicting Classifications	CA201518	rs_104895179	11 SubmittersRCV000083784 RCV000175563 RCV000587560 RCV001731372 RCV002262648 RCV004528779
NM_000243.3(MEFV):c.657C>T (p.Gly219=)	SNV Germline	Chr16:3254411	Conflicting classifications of pathogenicity	Familial Mediterranean fever not specified Condition: not provided Autoinflammatory syndrome Inborn genetic diseases MEFV-related disorder	Criteria Provided Conflicting Classifications	CA280630	rs_104895182	8 SubmittersRCV000083786 RCV000251868 RCV001705811 RCV002262649 RCV003298137 RCV004528780
NM_000243.3(MEFV):c.663G>C (p.Pro221=)	SNV Germline	Chr16:3254405	Conflicting classifications of pathogenicity	Familial Mediterranean fever not specified Autoinflammatory syndrome Condition: not provided MEFV-related disorder	Criteria Provided Conflicting Classifications	CA280633	rs_104895162	6 SubmittersRCV000083787 RCV000126743 RCV002262650 RCV003884348 RCV004529875
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 Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Autoinflammatory syndrome Familial Mediterranean fever, autosomal dominant	Criteria Provided Conflicting Classifications	CA280639	rs_104895080	13 SubmittersRCV000083789 RCV000213898 RCV002265603 RCV003224143 RCV001027835 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 Neuronal ceroid lipofuscinosis	Criteria Provided Multiple Submitters No Conflicts	CA280647	rs_104895127	3 SubmittersRCV000083792 RCV001804836 RCV004542801
NM_000243.3(MEFV):c.726C>G (p.Ser242Arg)	SNV Germline	Chr16:3254342	Conflicting classifications of pathogenicity	Familial Mediterranean fever Acute febrile neutrophilic dermatosis Condition: not provided	Criteria Provided Conflicting Classifications	CA280650	rs_104895127	5 SubmittersRCV000083793 RCV001174523 RCV001172095
NM_000243.3(MEFV):c.726C>T (p.Ser242=)	SNV Germline	Chr16:3254342	Conflicting classifications of pathogenicity	Familial Mediterranean fever Autoinflammatory syndrome	Criteria Provided Conflicting Classifications	CA280651	rs_104895127	3 SubmittersRCV000083794 RCV002262652
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 not specified Autoinflammatory syndrome Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant MEFV-related disorder	Criteria Provided Conflicting Classifications	CA280658	rs_104895144	11 SubmittersRCV000083797 RCV000587366 RCV001000132 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 Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant	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 Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant 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 Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant not specified Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant	Criteria Provided Conflicting Classifications	CA280673	rs_104895132	10 SubmittersRCV000083802 RCV000594000 RCV002262656 RCV002483165 RCV003114248 RCV003126494 RCV003126493
NM_000243.3(MEFV):c.926C>T (p.Thr309Met)	SNV Germline	Chr16:3249765	Conflicting classifications of pathogenicity	Familial Mediterranean fever not specified Condition: not provided Autoinflammatory syndrome	Criteria Provided Conflicting Classifications	CA280681	rs_104895155	8 SubmittersRCV000083806 RCV000214115 RCV001719850 RCV002262657
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 8 conditions not specified Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Autoinflammatory syndrome Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant	Criteria Provided Conflicting Classifications	CA280689	rs_104895112	17 SubmittersRCV000083809 RCV000585083 RCV000735285 RCV000855598 RCV001280973 RCV002262658 RCV003224144
NM_000243.3(MEFV):c.1587+33C>G	SNV Germline	Chr16:3246983	Conflicting classifications of pathogenicity	Familial Mediterranean fever Condition: not provided Familial Mediterranean fever, autosomal dominant	Criteria Provided Conflicting Classifications	CA280886	rs_146820856	7 SubmittersRCV000084150 RCV000727205 RCV001274312
NM_000243.3(MEFV):c.549G>A (p.Pro183=)	SNV Germline	Chr16:3254519	Conflicting classifications of pathogenicity	not specified Condition: not provided Familial Mediterranean fever	Criteria Provided Conflicting Classifications	CA292054	rs_587781035	5 SubmittersRCV000126741 RCV000757454 RCV000802334
NM_000243.3(MEFV):c.42G>A (p.Glu14=)	SNV Germline	Chr16:3256546	Conflicting classifications of pathogenicity	not specified Familial Mediterranean fever Condition: not provided Autoinflammatory syndrome Inborn genetic diseases MEFV-related disorder	Criteria Provided Conflicting Classifications	CA292057	rs_113314808	10 SubmittersRCV000126744 RCV001081766 RCV001812067 RCV002262730 RCV002326835 RCV004544271
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 Inborn genetic diseases Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Condition: not provided	Criteria Provided Conflicting Classifications	CA280902	rs_587783379	5 SubmittersRCV000148289 RCV002515994 RCV003126542 RCV003126543 RCV000589662
NM_000243.3(MEFV):c.329T>C (p.Leu110Pro)	SNV Germline	Chr16:3254739	Conflicting classifications of pathogenicity	not specified Condition: not provided Familial Mediterranean fever Autoinflammatory syndrome	Criteria Provided Conflicting Classifications	CA201524	rs_11466018	12 SubmittersRCV000175565 RCV000588731 RCV001083220 RCV002262770
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 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	CA7859869	rs_758628487	3 SubmittersRCV000219567 RCV002500741 RCV003126641 RCV003126639 RCV003126640
NM_000243.3(MEFV):c.2040G>T (p.Met680Ile)	SNV Germline	Chr16:3243447	Pathogenic/Likely pathogenic	Condition: not provided Familial Mediterranean fever	Criteria Provided Multiple Submitters No Conflicts	CA10577519	rs_28940580	2 SubmittersRCV000220209 RCV003605614
NM_000243.3(MEFV):c.1382G>A (p.Arg461Gln)	SNV Germline	Chr16:3247221	Conflicting classifications of pathogenicity	Condition: not provided Familial Mediterranean fever	Criteria Provided Conflicting Classifications	CA7860140	rs_145637617	4 SubmittersRCV000589998 RCV001089281
NM_000243.3(MEFV):c.1337A>C (p.Glu446Ala)	SNV Germline	Chr16:3248928	Conflicting classifications of pathogenicity	Condition: not provided Familial Mediterranean fever Autoinflammatory syndrome 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	CA7860180	rs_749651486	6 SubmittersRCV000219419 RCV000632789 RCV002262826 RCV003126637 RCV002478821 RCV003126638
NM_000243.3(MEFV):c.959G>C (p.Gly320Ala)	SNV Germline	Chr16:3249732	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	CA7860264	rs_374412819	5 SubmittersRCV000217797 RCV001349028 RCV002485438 RCV003126628 RCV003126627
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 Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis	Criteria Provided Conflicting Classifications	CA7860240	rs_377754606	4 SubmittersRCV000214481 RCV001833230 RCV002478820 RCV003126635 RCV003126636
NM_000243.3(MEFV):c.826G>T (p.Glu276Ter)	SNV Germline	Chr16:3254242	Conflicting classifications of pathogenicity	Condition: not provided Familial Mediterranean fever	Criteria Provided Conflicting Classifications	CA10577520	rs_876660995	2 SubmittersRCV000217401 RCV002519745
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 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	CA7860401	rs_202196752	6 SubmittersRCV000213498 RCV001247010 RCV002262822 RCV002500739 RCV003126626 RCV003126625
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 RCV003126622 RCV002494603
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 Familial Mediterranean fever, autosomal dominant Familial Mediterranean fever Acute febrile neutrophilic dermatosis	Criteria Provided Conflicting Classifications	CA10577524	rs_876660991	3 SubmittersRCV000215134 RCV002478819 RCV003126620 RCV003126619 RCV003126621
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 Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis	Criteria Provided Conflicting Classifications	CA10577525	rs_876660990	4 SubmittersRCV000222115 RCV000781527 RCV000818575 RCV003126617 RCV003126618
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	Criteria Provided Conflicting Classifications	CA10577526	rs_876660989	4 SubmittersRCV000218405 RCV000688336 RCV003126616 RCV003126615
NM_000243.3(MEFV):c.233A>G (p.Asn78Ser)	SNV Germline	Chr16:3256355	Conflicting classifications of pathogenicity	Condition: not provided Familial Mediterranean fever Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant	Criteria Provided Conflicting Classifications	CA7860501	rs_145015653	4 SubmittersRCV000215498 RCV001121438 RCV003126634 RCV003126633
NM_000243.3(MEFV):c.124C>T (p.Arg42Trp)	SNV Germline	Chr16:3256464	Conflicting classifications of pathogenicity	Familial Mediterranean fever Condition: not provided not specified Autoinflammatory syndrome	Criteria Provided Conflicting Classifications	CA7860530	rs_61754767	8 SubmittersRCV000632798 RCV000757453 RCV000780402 RCV002262821
NM_000243.3(MEFV):c.611G>A (p.Arg204His)	SNV Germline	Chr16:3254457	Conflicting classifications of pathogenicity	Familial Mediterranean fever not specified Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant Condition: not provided	Criteria Provided Conflicting Classifications	CA7860378	rs_775663363	6 SubmittersRCV000491523 RCV001804980 RCV003126650 RCV003126649 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		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 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	CA7860178	rs_756322372	9 SubmittersRCV000398473 RCV001044845 RCV001264418 RCV002487174 RCV003126659 RCV003126660
NM_000243.3(MEFV):c.932C>T (p.Ala311Val)	SNV Germline	Chr16:3249759	Conflicting classifications of pathogenicity	Condition: not provided Familial Mediterranean fever not specified	Criteria Provided Conflicting Classifications	CA7860272	rs_74346519	5 SubmittersRCV000725291 RCV001089437 RCV003155142
NM_000243.3(MEFV):c.744T>C (p.Ser248=)	SNV Germline	Chr16:3254324	Conflicting classifications of pathogenicity	Condition: not provided Familial Mediterranean fever	Criteria Provided Conflicting Classifications	CA7860340	rs_750362154	2 SubmittersRCV000274837 RCV001403432
NM_000243.3(MEFV):c.585G>A (p.Glu195=)	SNV Germline	Chr16:3254483	Conflicting classifications of pathogenicity	not specified Condition: not provided Inborn genetic diseases Autoinflammatory syndrome Familial Mediterranean fever	Criteria Provided Conflicting Classifications	CA7860389	rs_200766991	9 SubmittersRCV000394728 RCV001711853 RCV002356371 RCV002262922 RCV000272525
NM_000243.3(MEFV):c.1957C>T (p.Arg653Cys)	SNV Germline	Chr16:3243530	Conflicting classifications of pathogenicity	Condition: not provided Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis	Criteria Provided Conflicting Classifications	CA7859890	rs_375716505	5 SubmittersRCV000587289 RCV001276186 RCV003126664 RCV003126665
NM_000243.3(MEFV):c.1527C>T (p.Leu509=)	SNV Germline	Chr16:3247076	Conflicting classifications of pathogenicity	Familial Mediterranean fever	Criteria Provided Conflicting Classifications	CA7860110	rs_571832030	3 SubmittersRCV000380391
NM_000243.3(MEFV):c.1522C>T (p.Leu508=)	SNV Germline	Chr16:3247081	Conflicting classifications of pathogenicity	Familial Mediterranean fever	Criteria Provided Conflicting Classifications	CA10637684	rs_199937453	2 SubmittersRCV000286090
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 Familial Mediterranean fever Acute febrile neutrophilic dermatosis Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant	Criteria Provided Conflicting Classifications	CA10637690	rs_150730718	6 SubmittersRCV000336445 RCV001358002 RCV002487407 RCV003126669 RCV003126668
NM_000243.3(MEFV):c.1173T>C (p.Asp391=)	SNV Germline	Chr16:3249518	Conflicting classifications of pathogenicity	Familial Mediterranean fever Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7860223	rs_146077729	6 SubmittersRCV000311158 RCV001706508 RCV004021658
NM_000243.3(MEFV):c.651G>C (p.Ala217=)	SNV Germline	Chr16:3254417	Conflicting classifications of pathogenicity	Familial Mediterranean fever	Criteria Provided Conflicting Classifications	CA10643571	rs_886051971	2 SubmittersRCV000307645
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.564C>T (p.Pro188=)	SNV Germline	Chr16:3254504	Conflicting classifications of pathogenicity	Familial Mediterranean fever Condition: not provided	Criteria Provided Conflicting Classifications	CA7860398	rs_775755423	7 SubmittersRCV000327623 RCV000829169
NM_000243.3(MEFV):c.289C>T (p.Gln97Ter)	SNV Germline	Chr16:3254779	Conflicting classifications of pathogenicity	Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Familial Mediterranean fever Acute febrile neutrophilic dermatosis Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant Condition: not provided	Criteria Provided Conflicting Classifications	CA7860464	rs_747515115	5 SubmittersRCV000293866 RCV002480142 RCV003126673 RCV003126672 RCV002522844
NM_000243.3(MEFV):c.-15C>G	SNV Germline	Chr16:3256602	Conflicting classifications of pathogenicity	Familial Mediterranean fever not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA7860557	rs_11466015	5 SubmittersRCV000294823 RCV000438166 RCV001718665
NM_000243.3(MEFV):c.*74C>T	SNV Germline	Chr16:3243067	Conflicting classifications of pathogenicity	Familial Mediterranean fever Condition: not provided	Criteria Provided Conflicting Classifications	CA10648332	rs_11466050	2 SubmittersRCV000277511 RCV001561500
NM_000243.3(MEFV):c.1803T>A (p.Ile601=)	SNV Germline	Chr16:3243684	Conflicting classifications of pathogenicity	Familial Mediterranean fever not specified Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7859911	rs_779572391	6 SubmittersRCV000329543 RCV000507285 RCV001090249 RCV002411210
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.66G>A (p.Glu22=)	SNV Germline	Chr16:3256522	Conflicting classifications of pathogenicity	Familial Mediterranean fever Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7860542	rs_569040282	3 SubmittersRCV000398218 RCV002365373
NM_000243.3(MEFV):c.1730C>A (p.Thr577Asn)	SNV Germline	Chr16:3244283	Conflicting classifications of pathogenicity	Familial Mediterranean fever Condition: not provided	Criteria Provided Conflicting Classifications	CA10654935	rs_1057516210	3 SubmittersRCV000408827 RCV001269727
NM_000243.3(MEFV):c.1099C>G (p.Leu367Val)	SNV Germline	Chr16:3249592	Conflicting classifications of pathogenicity	Behcet disease not specified Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant Familial Mediterranean fever Familial Mediterranean fever Acute febrile neutrophilic dermatosis Condition: not provided Familial Mediterranean fever, autosomal dominant	Criteria Provided Conflicting Classifications	CA16044017	rs_1057519328	6 SubmittersRCV000416346 RCV001805036 RCV002480275 RCV002521488 RCV003126719 RCV003133255 RCV003126718
NM_000243.3(MEFV):c.2292G>T (p.Gly764=)	SNV Germline	Chr16:3243195	Conflicting classifications of pathogenicity	Condition: not provided not specified Familial Mediterranean fever Autoinflammatory syndrome	Criteria Provided Conflicting Classifications	CA7859840	rs_142352887	8 SubmittersRCV000429125 RCV001000190 RCV000989470 RCV002263677
NM_000243.3(MEFV):c.1459G>C (p.Val487Leu)	SNV Germline	Chr16:3247144	Conflicting classifications of pathogenicity	not specified Familial Mediterranean fever Condition: not provided Autoinflammatory syndrome Familial Mediterranean fever, autosomal dominant	Criteria Provided Conflicting Classifications	CA7860122	rs_104895100	8 SubmittersRCV000439116 RCV000531412 RCV001712195 RCV002263676 RCV003150813
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 Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant	Criteria Provided Conflicting Classifications	CA7860418	rs_759997694	5 SubmittersRCV000432274 RCV001835805 RCV002506080 RCV003126739 RCV003126738
NM_000243.3(MEFV):c.1759+11C>T	SNV Germline	Chr16:3244243	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	CA7860003	rs_370349451	4 SubmittersRCV000506579 RCV002056907 RCV003126783 RCV002506235 RCV003126782
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.1458C>T (p.Asp486=)	SNV Germline	Chr16:3247145	Conflicting classifications of pathogenicity	not specified Familial Mediterranean fever Autoinflammatory syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7860123	rs_147767925	4 SubmittersRCV000507087 RCV000908449 RCV002263714 RCV002395226
NM_000243.3(MEFV):c.1610+8G>A	SNV Germline	Chr16:3246517	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 Acute febrile neutrophilic dermatosis MEFV-related disorder	Criteria Provided Conflicting Classifications	CA7860071	rs_765410591	5 SubmittersRCV001429606 RCV001810995 RCV002496968 RCV003126778 RCV003126779 RCV004541587
NM_000243.3(MEFV):c.786T>C (p.Thr262=)	SNV Germline	Chr16:3254282	Conflicting classifications of pathogenicity	Condition: not provided Familial Mediterranean fever Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant	Criteria Provided Conflicting Classifications	CA7860330	rs_575521131	4 SubmittersRCV000505968 RCV001410018 RCV003126781 RCV003126780
NM_000243.3(MEFV):c.*9C>T	SNV Germline	Chr16:3243132	Conflicting classifications of pathogenicity	Condition: not provided not specified Familial Mediterranean fever Autoinflammatory syndrome MEFV-related disorder	Criteria Provided Conflicting Classifications	CA7859833	rs_11466048	10 SubmittersRCV000514937 RCV000722126 RCV001079215 RCV002263721 RCV004535656
NM_000243.3(MEFV):c.289C>A (p.Gln97Lys)	SNV Germline	Chr16:3254779	Conflicting classifications of pathogenicity	Condition: not provided Familial Mediterranean fever Autoinflammatory syndrome Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis	Criteria Provided Conflicting Classifications	CA7860463	rs_747515115	5 SubmittersRCV000514677 RCV000632795 RCV002263722 RCV003126786 RCV003126787
NM_000243.3(MEFV):c.1171G>A (p.Asp391Asn)	SNV Germline	Chr16:3249520	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	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 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	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 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	CA7860213	rs_758868622	5 SubmittersRCV000540246 RCV002263736 RCV002506300 RCV003126798 RCV003126797
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	7 SubmittersRCV000588308 RCV001083427 RCV002263740 RCV003126805 RCV002431547 RCV003126806
NM_000243.3(MEFV):c.198C>T (p.Ala66=)	SNV Germline	Chr16:3256390	Conflicting classifications of pathogenicity	Familial Mediterranean fever not specified Condition: not provided Autoinflammatory syndrome	Criteria Provided Conflicting Classifications	CA7860511	rs_149380763	5 SubmittersRCV000549424 RCV000589254 RCV001712489 RCV002263739
NM_000243.3(MEFV):c.1898C>T (p.Pro633Leu)	SNV Germline	Chr16:3243589	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	CA276955244	rs_976279218	4 SubmittersRCV000534641 RCV003126804 RCV003126803 RCV002490969
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, autosomal dominant Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Acute febrile neutrophilic dermatosis	Criteria Provided Conflicting Classifications	CA7860112	rs_190705322	9 SubmittersRCV000530643 RCV001775848 RCV002263738 RCV003126801 RCV002490968 RCV003126802
NM_000243.3(MEFV):c.1223G>T (p.Arg408Leu)	SNV Germline	Chr16:3249468	Conflicting classifications of pathogenicity	Familial Mediterranean fever Condition: not provided Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Autoinflammatory syndrome Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant	Criteria Provided Conflicting Classifications	CA394469353	rs_11466024	7 SubmittersRCV000532782 RCV001591200 RCV002483374 RCV002263737 RCV003126800 RCV003126799
NM_000243.3(MEFV):c.1779T>A (p.Ala593=)	SNV Germline	Chr16:3243873	Conflicting classifications of pathogenicity	Condition: not provided Familial Mediterranean fever Autoinflammatory syndrome	Criteria Provided Conflicting Classifications	CA7859929	rs_377657099	4 SubmittersRCV000585564 RCV001401924 RCV002263816
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 Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis MEFV-related disorder	Criteria Provided Conflicting Classifications	CA7859844	rs_772754956	6 SubmittersRCV000589667 RCV000939022 RCV001811088 RCV002483565 RCV003126834 RCV003126835 RCV004530641
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 Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis	Criteria Provided Conflicting Classifications	CA7860243	rs_763015849	6 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 Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant	Criteria Provided Conflicting Classifications	CA276896167	rs_922232615	4 SubmittersRCV000587448 RCV001829616 RCV002476273 RCV003126833 RCV003126832
NM_000243.3(MEFV):c.1587+7G>A	SNV Germline	Chr16:3247009	Conflicting classifications of pathogenicity	not specified Familial Mediterranean fever Condition: not provided	Criteria Provided Conflicting Classifications	CA7860098	rs_375555497	3 SubmittersRCV000590407 RCV000927730 RCV003117357
NM_000243.3(MEFV):c.116G>A (p.Arg39Lys)	SNV Germline	Chr16:3256472	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	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 Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis 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	5 SubmittersRCV000756332 RCV001083401 RCV002499046 RCV003126886 RCV003126885
NM_000243.3(MEFV):c.1092G>T (p.Pro364=)	SNV Germline	Chr16:3249599	Conflicting classifications of pathogenicity	Familial Mediterranean fever Condition: not provided Autoinflammatory syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7860234	rs_11466022	6 SubmittersRCV000757452 RCV001619816 RCV002263850 RCV002448947
NM_000243.3(MEFV):c.1504G>A (p.Val502Ile)	SNV Germline	Chr16:3247099	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	CA7860114	rs_140462252	4 SubmittersRCV000632788 RCV002507067 RCV003126880 RCV003126879
NM_000243.3(MEFV):c.1780C>T (p.Gln594Ter)	SNV Germline	Chr16:3243872	Conflicting classifications of pathogenicity	Familial Mediterranean fever Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant Condition: not provided Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis	Criteria Provided Conflicting Classifications	CA7859928	rs_780770024	4 SubmittersRCV000632791 RCV003126882 RCV003126881 RCV001815355 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, autosomal dominant Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant	Criteria Provided Conflicting Classifications		rs_151306047	4 SubmittersRCV000701319 RCV003126914 RCV003126913 RCV002493230
NM_000243.3(MEFV):c.331G>A (p.Gly111Arg)	SNV Germline	Chr16:3254737	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 MEFV-related disorder	Criteria Provided Conflicting Classifications		rs_112739451	6 SubmittersRCV000756333 RCV001201760 RCV003126926 RCV002477737 RCV003126925 RCV004535889
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	Criteria Provided Conflicting Classifications		rs_150819742	5 SubmittersRCV000779184 RCV001002344 RCV003465710
NM_000243.3(MEFV):c.1643C>A (p.Thr548Asn)	SNV Germline	Chr16:3244556	Conflicting classifications of pathogenicity	not specified Familial Mediterranean fever Condition: not provided Autoinflammatory syndrome Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant	Criteria Provided Conflicting Classifications		rs_550970304	6 SubmittersRCV000781531 RCV000792803 RCV001555989 RCV002263975 RCV003126935 RCV003126934
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		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	not specified Familial Mediterranean fever Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant	Criteria Provided Conflicting Classifications		rs_775755423	3 SubmittersRCV000781526 RCV001501166 RCV003126933 RCV003126932
NM_000243.3(MEFV):c.239G>A (p.Arg80His)	SNV Germline	Chr16:3256349	Conflicting classifications of pathogenicity	not specified Familial Mediterranean fever Condition: not provided 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		rs_201075710	7 SubmittersRCV000781524 RCV001273730 RCV001561342 RCV003126931 RCV003126930 RCV002487611
NM_000243.3(MEFV):c.1759+7C>T	SNV Germline	Chr16:3244247	Conflicting classifications of pathogenicity	not specified Familial Mediterranean fever Autoinflammatory syndrome	Criteria Provided Conflicting Classifications		rs_772667365	4 SubmittersRCV000780409 RCV001825529 RCV002263974
NM_000243.3(MEFV):c.911-12G>A	SNV Germline	Chr16:3249792	Conflicting classifications of pathogenicity	not specified Condition: not provided Familial Mediterranean fever	Criteria Provided Conflicting Classifications		rs_372016564	3 SubmittersRCV000780407 RCV000828031 RCV002067369
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		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 Condition: not provided Autoinflammatory syndrome Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant	Criteria Provided Conflicting Classifications		rs_762605919	5 SubmittersRCV000795051 RCV001776003 RCV002263985 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		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 Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant	Criteria Provided Conflicting Classifications		rs_139313647	5 SubmittersRCV000820957 RCV001281042 RCV002487836 RCV003127477 RCV003127476
NM_000243.3(MEFV):c.586G>C (p.Gly196Arg)	SNV Germline	Chr16:3254482	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		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 Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant	Criteria Provided Conflicting Classifications		rs_104895125	7 SubmittersRCV000823143 RCV001507334 RCV003127479 RCV003127478
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		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 Familial Mediterranean fever, autosomal dominant Inborn genetic diseases Acute febrile neutrophilic dermatosis	Criteria Provided Conflicting Classifications		rs_224224	6 SubmittersRCV000829179 RCV001088841 RCV002501163 RCV003127485 RCV004029209 RCV003127486
NM_000243.3(MEFV):c.948C>T (p.His316=)	SNV Germline	Chr16:3249743	Conflicting classifications of pathogenicity	Familial Mediterranean fever Condition: not provided Autoinflammatory syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_150252937	6 SubmittersRCV000875656 RCV001712821 RCV002264037 RCV002372487
NM_000243.3(MEFV):c.1610+10G>T	SNV Germline	Chr16:3246515	Conflicting classifications of pathogenicity	Familial Mediterranean fever not specified Condition: not provided	Criteria Provided Conflicting Classifications		rs_11466033	4 SubmittersRCV000875053 RCV001193205 RCV001692309
NM_000243.3(MEFV):c.1038C>G (p.Gly346=)	SNV Germline	Chr16:3249653	Conflicting classifications of pathogenicity	Familial Mediterranean fever Inborn genetic diseases MEFV-related disorder	Criteria Provided Conflicting Classifications		rs_141090517	5 SubmittersRCV000907142 RCV002390892 RCV004531049
NM_000243.3(MEFV):c.2149C>T (p.Arg717Cys)	SNV Germline	Chr16:3243338	Conflicting classifications of pathogenicity	Familial Mediterranean fever Condition: not provided Autoinflammatory syndrome MEFV-related disorder	Criteria Provided Conflicting Classifications		rs_104895192	5 SubmittersRCV000916352 RCV001310310 RCV002264090 RCV004543438
NM_000243.3(MEFV):c.801A>G (p.Thr267=)	SNV Germline	Chr16:3254267	Conflicting classifications of pathogenicity	Familial Mediterranean fever Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_141455838	4 SubmittersRCV000925002 RCV002416152
NM_000243.3(MEFV):c.48G>A (p.Leu16=)	SNV Germline	Chr16:3256540	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 Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_777381107	6 SubmittersRCV000914758 RCV001655645 RCV002505350 RCV003127546 RCV003127545 RCV003307683
NM_000243.3(MEFV):c.1344A>C (p.Ala448=)	SNV Germline	Chr16:3248921	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		rs_143337771	4 SubmittersRCV000939111 RCV002489258 RCV003127550 RCV003127549
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		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 Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant	Criteria Provided Conflicting Classifications		rs_575678784	4 SubmittersRCV000932960 RCV002307644 RCV002505387
NM_000243.3(MEFV):c.344C>G (p.Pro115Arg)	SNV Germline	Chr16:3254724	Conflicting classifications of pathogenicity	Familial Mediterranean fever Condition: not provided	Criteria Provided Conflicting Classifications		rs_201766654	3 SubmittersRCV000941478 RCV001811542
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 Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis MEFV-related disorder	Criteria Provided Conflicting Classifications		rs_139899201	5 SubmittersRCV000939112 RCV001655646 RCV002502875 RCV003127551 RCV003127552 RCV004543517
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		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 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		rs_545517350	6 SubmittersRCV000989472 RCV001002516 RCV002479155 RCV003127564 RCV003127563
NM_000243.3(MEFV):c.2150G>A (p.Arg717His)	SNV Germline	Chr16:3243337	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		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 Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis	Criteria Provided Conflicting Classifications		rs_967990798	3 SubmittersRCV000989476 RCV003127567 RCV003127568
NM_000243.3(MEFV):c.1889C>T (p.Pro630Leu)	SNV Germline	Chr16:3243598	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		rs_376579860	5 SubmittersRCV000989477 RCV002489460 RCV003127569 RCV003127570
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		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 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		rs_387907566	5 SubmittersRCV001002108 RCV001827156 RCV003127580 RCV002481799 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, autosomal dominant Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis	Criteria Provided Conflicting Classifications		rs_1306636942	4 SubmittersRCV001002490 RCV001218918 RCV003127583 RCV003127582 RCV002505532
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		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		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 Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis	Criteria Provided Conflicting Classifications		rs_952604863	4 SubmittersRCV001071930 RCV002489718 RCV003127622 RCV003127623
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 Acute febrile neutrophilic dermatosis	Criteria Provided Conflicting Classifications		rs_199937453	4 SubmittersRCV001066615 RCV001274313 RCV001811638 RCV003127618
NM_000243.3(MEFV):c.973G>A (p.Gly325Ser)	SNV Germline	Chr16:3249718	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		rs_146862274	4 SubmittersRCV001058593 RCV002505619 RCV003127610 RCV003127609
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 Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant	Criteria Provided Conflicting Classifications		rs_775020273	4 SubmittersRCV001052237 RCV002505600 RCV003127606 RCV003127605
NM_000243.3(MEFV):c.548C>T (p.Pro183Leu)	SNV Germline	Chr16:3254520	Conflicting classifications of pathogenicity	Familial Mediterranean fever Inborn genetic diseases 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		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		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 Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Familial Mediterranean fever	Criteria Provided Conflicting Classifications		rs_753623518	3 SubmittersRCV001090251 RCV002489726 RCV003127626 RCV003127627 RCV003127625
NM_000243.3(MEFV):c.*190G>C	SNV Germline	Chr16:3242951	Conflicting classifications of pathogenicity	Familial Mediterranean fever Condition: not provided	Criteria Provided Conflicting Classifications		rs_114930858	2 SubmittersRCV001117675 RCV001564541
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 Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant Familial Mediterranean fever	Criteria Provided Conflicting Classifications		rs_1281153557	3 SubmittersRCV001121251 RCV003127636 RCV003127635 RCV002491374
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	Criteria Provided Conflicting Classifications		rs_202228332	5 SubmittersRCV001116331 RCV003127634 RCV003127633
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 Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant	Criteria Provided Conflicting Classifications		rs_11466023	6 SubmittersRCV001121353 RCV001174702 RCV002482225 RCV003127638 RCV003127637
NM_000243.3(MEFV):c.1356+11A>C	SNV Germline	Chr16:3248898	Conflicting classifications of pathogenicity	not specified Familial Mediterranean fever	Criteria Provided Conflicting Classifications		rs_548648384	2 SubmittersRCV001174703 RCV002068125
NM_000243.3(MEFV):c.1501C>T (p.Arg501Cys)	SNV Germline	Chr16:3247102	Conflicting classifications of pathogenicity	not specified 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		rs_104895101	4 SubmittersRCV001175537 RCV001833735 RCV002505757 RCV003127674 RCV003127673
NM_000243.3(MEFV):c.1261-13G>A	SNV Germline	Chr16:3249017	Conflicting classifications of pathogenicity	not specified Familial Mediterranean fever	Criteria Provided Conflicting Classifications		rs_778114467	2 SubmittersRCV001192543 RCV002069202
NM_000243.3(MEFV):c.1324T>A (p.Ser442Thr)	SNV Germline	Chr16:3248941	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		rs_779558690	4 SubmittersRCV001216264 RCV002480711 RCV003127691 RCV003127690
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		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 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		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	Criteria Provided Conflicting Classifications		rs_923516953	3 SubmittersRCV001225884 RCV002497768 RCV003127700 RCV003127699
NM_000243.3(MEFV):c.2117C>T (p.Pro706Leu)	SNV Germline	Chr16:3243370	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		rs_202174893	4 SubmittersRCV001246070 RCV002484375 RCV003127728 RCV003127727
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		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		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 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		rs_766670643	5 SubmittersRCV001240669 RCV002480800 RCV003127720 RCV003127719
NM_000243.3(MEFV):c.214C>T (p.Gln72Ter)	SNV Germline	Chr16:3256374	Pathogenic	Familial Mediterranean fever	Criteria Provided Single Submitter		rs_1959115414	1 SubmittersRCV001247730
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		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 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		rs_749730274	4 SubmittersRCV001280658 RCV003127750 RCV003127748 RCV003127749 RCV002499490
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 Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis	Criteria Provided Conflicting Classifications		rs_981883034	5 SubmittersRCV001812486 RCV001835362 RCV002499494 RCV003127754 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		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 Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis	Criteria Provided Conflicting Classifications		rs_777199024	3 SubmittersRCV001303574 RCV002486172 RCV003127776 RCV003127777
NM_000243.3(MEFV):c.475A>G (p.Ser159Gly)	SNV Germline	Chr16:3254593	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		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		rs_756029520	4 SubmittersRCV001307126 RCV002476413 RCV003127786 RCV003127787
NM_000243.3(MEFV):c.199G>A (p.Val67Met)	SNV Germline	Chr16:3256389	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		rs_1422054832	4 SubmittersRCV001310311 RCV001871759 RCV002476438 RCV003127791 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		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		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, autosomal dominant Acute febrile neutrophilic dermatosis Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant	Criteria Provided Conflicting Classifications		rs_376971129	4 SubmittersRCV001360070 RCV003127832 RCV003127833 RCV002504590
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 Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant	Criteria Provided Conflicting Classifications		rs_144716190	4 SubmittersRCV001374636 RCV002488189 RCV003127857 RCV003127856
NM_000243.3(MEFV):c.150G>A (p.Pro50=)	SNV Germline	Chr16:3256438	Conflicting classifications of pathogenicity	Familial Mediterranean fever Autoinflammatory syndrome	Criteria Provided Conflicting Classifications		rs_376952748	2 SubmittersRCV001395412 RCV002264296
NM_000243.3(MEFV):c.99G>A (p.Val33=)	SNV Germline	Chr16:3256489	Conflicting classifications of pathogenicity	Familial Mediterranean fever Autoinflammatory syndrome MEFV-related disorder	Criteria Provided Conflicting Classifications		rs_767848974	3 SubmittersRCV001424380 RCV002264309 RCV004540301
NM_000243.3(MEFV):c.1677C>T (p.Leu559=)	SNV Germline	Chr16:3244522	Conflicting classifications of pathogenicity	Familial Mediterranean fever Acute febrile neutrophilic dermatosis Inborn genetic diseases Familial Mediterranean fever, autosomal dominant	Criteria Provided Conflicting Classifications		rs_144672997	3 SubmittersRCV001476425 RCV003127954 RCV002405127 RCV003127953
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 Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant	Criteria Provided Conflicting Classifications		rs_771061550	3 SubmittersRCV001453535 RCV002506530 RCV003127922 RCV003127921
NM_000243.3(MEFV):c.765A>G (p.Ala255=)	SNV Germline	Chr16:3254303	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		rs_771714168	3 SubmittersRCV001477286 RCV002501648 RCV003127956 RCV003127955
NM_000243.3(MEFV):c.1401G>A (p.Glu467=)	SNV Germline	Chr16:3247202	Conflicting classifications of pathogenicity	Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant Familial Mediterranean fever	Criteria Provided Conflicting Classifications		rs_1398639205	3 SubmittersRCV003127976 RCV002495762 RCV003127975 RCV001500707
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		rs_567739580	3 SubmittersRCV001486338 RCV002414178 RCV003127962 RCV003127961
NM_000243.3(MEFV):c.840G>A (p.Arg280=)	SNV Germline	Chr16:3254228	Conflicting classifications of pathogenicity	Familial Mediterranean fever Autoinflammatory syndrome	Criteria Provided Conflicting Classifications		rs_748624682	2 SubmittersRCV001489672 RCV002264351
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		rs_547393490	4 SubmittersRCV001486689 RCV002495726 RCV003127964 RCV003127963 RCV002414179
NM_000243.3(MEFV):c.1510C>T (p.Gln504Ter)	SNV Unknown	Chr16:3247093	Pathogenic	Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis	Criteria Provided Single Submitter		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		rs_773320625	4 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, autosomal dominant Familial Mediterranean fever Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant Familial Mediterranean fever Acute febrile neutrophilic dermatosis	Criteria Provided Conflicting Classifications		rs_752973530	3 SubmittersRCV001757430 RCV003125902 RCV003125901 RCV002503238 RCV003125903
NM_000243.3(MEFV):c.1024C>T (p.Pro342Ser)	SNV Germline	Chr16:3249667	Conflicting classifications of pathogenicity	Condition: not provided Familial Mediterranean fever Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant	Criteria Provided Conflicting Classifications		rs_774397209	3 SubmittersRCV001779667 RCV001868828 RCV003125905 RCV003125904
NM_000243.3(MEFV):c.2287G>A (p.Gly763Arg)	SNV Germline	Chr16:3243200	Conflicting classifications of pathogenicity	Familial Mediterranean fever, autosomal dominant Familial Mediterranean fever Acute febrile neutrophilic dermatosis	Criteria Provided Conflicting Classifications		rs_2141664466	3 SubmittersRCV001785241 RCV001885199 RCV003125906
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		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 Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant	Criteria Provided Conflicting Classifications		rs_757216434	3 SubmittersRCV001897894 RCV002482663 RCV003125954 RCV003125953
NM_000243.3(MEFV):c.1685A>G (p.Gln562Arg)	SNV Germline	Chr16:3244514	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		rs_1033941048	3 SubmittersRCV001990757 RCV002507721 RCV003126049 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		rs_749052818	3 SubmittersRCV001974306 RCV002492214 RCV003126062 RCV003126061
NM_000243.3(MEFV):c.608T>C (p.Leu203Pro)	SNV Germline	Chr16:3254460	Conflicting classifications of pathogenicity	Familial Mediterranean fever Autoinflammatory syndrome Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis	Criteria Provided Conflicting Classifications		rs_1959084389	3 SubmittersRCV001995528 RCV002264442 RCV003126069 RCV003126070
NM_000243.3(MEFV):c.68A>G (p.Lys23Arg)	SNV Germline	Chr16:3256520	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		rs_754679070	3 SubmittersRCV001896285 RCV002506976 RCV003125958 RCV003125957
NM_000243.3(MEFV):c.933G>A (p.Ala311=)	SNV Germline	Chr16:3249758	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		rs_774547197	3 SubmittersRCV002208387 RCV002502028 RCV003126200 RCV003126199
NM_000243.3(MEFV):c.1261-10G>C	SNV Germline	Chr16:3249014	Conflicting classifications of pathogenicity	Familial Mediterranean fever Autoinflammatory syndrome	Criteria Provided Conflicting Classifications		rs_767528614	2 SubmittersRCV002121853 RCV002264467
NM_000243.3(MEFV):c.1782G>A (p.Gln594=)	SNV Germline	Chr16:3243870	Conflicting classifications of pathogenicity	Familial Mediterranean fever Condition: not provided	Criteria Provided Conflicting Classifications		rs_144122901	2 SubmittersRCV002148999 RCV003120833
NM_000243.3(MEFV):c.426G>C (p.Leu142=)	SNV Germline	Chr16:3254642	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		rs_1465332482	3 SubmittersRCV002113550 RCV002499997 RCV003126159 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		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, autosomal dominant Familial Mediterranean fever Acute febrile neutrophilic dermatosis Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis	Criteria Provided Conflicting Classifications		rs_772332566	4 SubmittersRCV002262060 RCV002502075 RCV003095938 RCV003126208 RCV003126209
NM_000243.3(MEFV):c.390C>T (p.Asn130=)	SNV Germline	Chr16:3254678	Conflicting classifications of pathogenicity	Autoinflammatory syndrome Familial Mediterranean fever	Criteria Provided Conflicting Classifications		rs_780976880	2 SubmittersRCV002262063 RCV003774818

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
9 conditions
Familial Mediterranean fever, autosomal dominant
8 conditions
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Autoinflammatory syndrome
Acute febrile neutrophilic dermatosis
Inborn genetic diseases
Recurrent fever
MEFV-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA280091

rs_61752717

48 SubmittersRCV000002647 RCV000216751 RCV000763381 RCV000735306 RCV001028046 RCV000735284 RCV001535935 RCV002262539 RCV001197704 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

Criteria Provided
Multiple Submitters
No Conflicts

CA280093

rs_28940578

35 SubmittersRCV000002648 RCV000220431 RCV000589706 RCV000763380 RCV002262540 RCV004528066

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

Criteria Provided
Multiple Submitters
No Conflicts

CA280095

rs_28940579

47 SubmittersRCV000002649 RCV000220654 RCV000515437 RCV000984975 RCV000623003 RCV001535867 RCV002262541

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
Familial Mediterranean fever, autosomal dominant
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

Criteria Provided
Conflicting Classifications

CA280097

rs_3743930

32 SubmittersRCV000002651 RCV000218652 RCV000513398 RCV000768024 RCV000761446 RCV002326658 RCV002251861 RCV002262542 RCV003224086 RCV004528067

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

SNV
Germline

Chr16:3254567

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Condition: not provided
Familial Mediterranean fever, autosomal dominant
not specified
Autoinflammatory syndrome

Criteria Provided
Conflicting Classifications

CA280099

rs_104895079

16 SubmittersRCV000002652 RCV000588525 RCV001262294 RCV003230342 RCV002262543

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

Criteria Provided
Conflicting Classifications

CA280101

rs_104895081

16 SubmittersRCV000002653 RCV000991330 RCV000996177 RCV001535446 RCV002262544 RCV004532273

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

SNV
Germline

Chr16:3247166

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Condition: not provided
not specified
Familial Mediterranean fever, autosomal dominant
Autoinflammatory syndrome

Criteria Provided
Conflicting Classifications

CA280103

rs_104895083

17 SubmittersRCV000002654 RCV000508324 RCV003230343 RCV003466786 RCV002262545

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

SNV
Germline

Chr16:3243403

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA280105

rs_104895094

33 SubmittersRCV000002656 RCV000213470 RCV000622573 RCV000415431 RCV000768021 RCV000508192 RCV001270033 RCV003389035 RCV002262546 RCV003224087

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
Familial Mediterranean fever, autosomal dominant
Inborn genetic diseases
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
MEFV-related disorder
Autoinflammatory syndrome

Criteria Provided
Conflicting Classifications

CA280107

rs_61732874

35 SubmittersRCV000002657 RCV000213702 RCV000768020 RCV000999738 RCV001770031 RCV002415388 RCV001535864 RCV004532274 RCV002262547

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

Criteria Provided
Multiple Submitters
No Conflicts

CA280110

rs_104895097

30 SubmittersRCV000002658 RCV000217233 RCV000763379 RCV001536101 RCV002262548 RCV002512683 RCV003466787

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

SNV
Germline

Chr16:3243447

Pathogenic

Familial Mediterranean fever
Condition: not provided
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Familial Mediterranean fever, autosomal dominant
Autoinflammatory syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA280112

rs_28940580

20 SubmittersRCV000002659 RCV000216518 RCV001269325 RCV001283820 RCV002262549

NM_000243.3(MEFV):c.1105C>T (p.Pro369Ser)

SNV
Germline

Chr16:3249586

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Condition: not provided
not specified
Autoinflammatory syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA280114

rs_11466023

20 SubmittersRCV000002660 RCV000416092 RCV000215679 RCV002262550 RCV002433442

NM_000243.3(MEFV):c.1223G>A (p.Arg408Gln)

SNV
Germline

Chr16:3249468

Conflicting classifications of pathogenicity

Familial Mediterranean fever
not specified
Condition: not provided
Autoinflammatory syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA280116

rs_11466024

19 SubmittersRCV000002661 RCV000218029 RCV000224408 RCV002262551 RCV002362552

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

SNV
Germline

Chr16:3243529

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Condition: not provided
Familial Mediterranean fever, autosomal dominant

Criteria Provided
Conflicting Classifications

CA280118

rs_104895085

13 SubmittersRCV000002662 RCV000255083 RCV003466788

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

Criteria Provided
Conflicting Classifications

CA280120

rs_104895076

12 SubmittersRCV000002663 RCV000216721 RCV000415966 RCV002482818 RCV002262552 RCV003125825 RCV003125826

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

Criteria Provided
Conflicting Classifications

CA280244

rs_104895137

9 SubmittersRCV000030170 RCV001705603 RCV001000668 RCV001280974 RCV002262578 RCV003224107

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

SNV
Germline

Chr16:3248947

Conflicting classifications of pathogenicity

Condition: not provided
Familial Mediterranean fever
not specified
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
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 RCV000989483 RCV001526854 RCV001281041 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
Condition: not provided
Autoinflammatory syndrome
Familial Mediterranean fever, autosomal dominant
Inborn genetic diseases
Acute febrile neutrophilic dermatosis

Criteria Provided
Conflicting Classifications

CA280251

rs_76464258

11 SubmittersRCV000030173 RCV000251198 RCV001689576 RCV002262581 RCV003125839 RCV002390122 RCV003125840

NM_000243.3(MEFV):c.1518C>T (p.Ile506=)

SNV
Germline

Chr16:3247085

Conflicting classifications of pathogenicity

Familial Mediterranean fever
not specified
Condition: not provided
Autoinflammatory syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA280254

rs_104895099

12 SubmittersRCV000030174 RCV000126736 RCV001532317 RCV002262582 RCV002390123

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

Criteria Provided
Conflicting Classifications

CA280263

rs_11466045

14 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
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis
Autoinflammatory syndrome
See cases
Familial Mediterranean fever, autosomal dominant
Inborn genetic diseases
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis

Criteria Provided
Multiple Submitters
No Conflicts

CA280267

rs_28940580

36 SubmittersRCV000030179 RCV000222364 RCV000515335 RCV001197705 RCV002262586 RCV002251932 RCV002254152 RCV002415433 RCV002477026

NM_000243.3(MEFV):c.2118G>A (p.Pro706=)

SNV
Germline

Chr16:3243369

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA280268

rs_2234939

14 SubmittersRCV000030181 RCV000250856 RCV001705606 RCV001731318 RCV002415434 RCV002262587

NM_000243.3(MEFV):c.910G>A (p.Gly304Arg)

SNV
Germline

Chr16:3254158

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Condition: not provided
not specified
Autoinflammatory syndrome
MEFV-related disorder

Criteria Provided
Conflicting Classifications

CA280280

rs_75977701

14 SubmittersRCV000030186 RCV000414140 RCV000508393 RCV002262592 RCV004532422

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

SNV
Germline

Chr16:3249750

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA280283

rs_104895204

7 SubmittersRCV000030187 RCV003480037 RCV003125843 RCV003125844

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
not specified
Familial Mediterranean fever, autosomal dominant
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 RCV001290446 RCV001276303 RCV002262594 RCV003224110

NM_000243.3(MEFV):c.2060G>A (p.Gly687Asp)

SNV
Germline/somatic

Chr16:3243427

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Condition: not provided

Criteria Provided
Conflicting Classifications

CA280323

rs_387907570

4 SubmittersRCV000049558 RCV000216370

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

Criteria Provided
Conflicting Classifications

CA280349

rs_147557169

7 SubmittersRCV000083246 RCV000221844 RCV001193206 RCV002262627

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
Autoinflammatory syndrome

Criteria Provided
Conflicting Classifications

CA280361

rs_104895198

8 SubmittersRCV000083679 RCV000417776 RCV000755567 RCV002262629

NM_000243.3(MEFV):c.1056C>T (p.Cys352=)

SNV
Germline

Chr16:3249635

Conflicting classifications of pathogenicity

Familial Mediterranean fever
See cases

Criteria Provided
Conflicting Classifications

CA280364

rs_104895164

3 SubmittersRCV000083680 RCV002251974

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

SNV
Germline

Chr16:3249631

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
Condition: not provided

Criteria Provided
Conflicting Classifications

CA280367

rs_104895116

7 SubmittersRCV000083681 RCV003126416 RCV003126415 RCV002483159 RCV003480054

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

SNV
Germline

Chr16:3249602

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA280370

rs_104895170

4 SubmittersRCV000083682 RCV000615290 RCV003126418 RCV003126417

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
not specified
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

CA280379

rs_104895082

6 SubmittersRCV000083685 RCV001192541 RCV002490735 RCV003126421 RCV003126422

NM_000243.3(MEFV):c.1245C>T (p.Val415=)

SNV
Germline

Chr16:3249446

Conflicting classifications of pathogenicity

Familial Mediterranean fever
not specified
Condition: not provided
Autoinflammatory syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA280382

rs_104895195

11 SubmittersRCV000083686 RCV000590208 RCV000877404 RCV002262631 RCV002390249

NM_000243.3(MEFV):c.1261-11T>G

SNV
Germline

Chr16:3249015

Conflicting classifications of pathogenicity

Familial Mediterranean fever
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA280387

rs_77086855

5 SubmittersRCV000083689 RCV000428464 RCV001537822

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

SNV
Germline

Chr16:3249032

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA280388

rs_104895140

6 SubmittersRCV000083690 RCV001258254 RCV001711585 RCV003126423 RCV003126424

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

Criteria Provided
Conflicting Classifications

CA280392

rs_104895151

9 SubmittersRCV000083692 RCV000512979 RCV000855597 RCV001280972 RCV003224140

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

SNV
Germline

Chr16:3247198

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA280395

rs_104895173

4 SubmittersRCV000083693 RCV001553681 RCV003126426 RCV003126425

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

SNV
Germline

Chr16:3247144

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

CA280403

rs_104895100

6 SubmittersRCV000083697 RCV002477245 RCV003126428 RCV003126427

NM_000243.3(MEFV):c.1467G>A (p.Gln489=)

SNV
Germline

Chr16:3247136

Conflicting classifications of pathogenicity

Familial Mediterranean fever
not specified
Condition: not provided
Autoinflammatory syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA280406

rs_61732424

12 SubmittersRCV000083698 RCV000126746 RCV000590572 RCV002262632 RCV002390250

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

SNV
Germline

Chr16:3247102

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

CA280409

rs_104895101

5 SubmittersRCV000083699 RCV002483160 RCV003126429 RCV003126430

NM_000243.3(MEFV):c.1502G>A (p.Arg501His)

SNV
Germline

Chr16:3247101

Conflicting classifications of pathogenicity

Familial Mediterranean fever
not specified
Autoinflammatory syndrome

Criteria Provided
Conflicting Classifications

CA280412

rs_104895196

4 SubmittersRCV000083700 RCV001192542 RCV002262633

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

SNV
Germline

Chr16:3247065

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA280418

rs_104895199

4 SubmittersRCV000083702 RCV001753485 RCV003126432 RCV003126431

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

SNV
Germline

Chr16:3244269

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
Autoinflammatory syndrome
not specified

Criteria Provided
Conflicting Classifications

CA280431

rs_104895165

8 SubmittersRCV000083708 RCV002483161 RCV003126434 RCV003126433 RCV002262634 RCV003488380

NM_000243.3(MEFV):c.1760-4G>A

SNV
Germline

Chr16:3243896

Conflicting classifications of pathogenicity

Familial Mediterranean fever
not specified
Condition: not provided
Autoinflammatory syndrome

Criteria Provided
Conflicting Classifications

CA280436

rs_79662406

11 SubmittersRCV000083710 RCV000246189 RCV001572991 RCV002262635

NM_000243.3(MEFV):c.1776C>T (p.Gly592=)

SNV
Germline

Chr16:3243876

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Condition: not provided

Criteria Provided
Conflicting Classifications

CA280438

rs_104895161

3 SubmittersRCV000083711 RCV000285170

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

Criteria Provided
Conflicting Classifications

CA280456

rs_104895135

6 SubmittersRCV000083718 RCV000834990 RCV001797624 RCV003126438 RCV003126437

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

Criteria Provided
Conflicting Classifications

CA280459

rs_104895128

11 SubmittersRCV000083719 RCV000763382 RCV001811392 RCV003224141 RCV003447490

NM_000243.3(MEFV):c.1956C>A (p.Arg652=)

SNV
Germline

Chr16:3243531

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Autoinflammatory syndrome

Criteria Provided
Conflicting Classifications

CA280472

rs_104895084

3 SubmittersRCV000083725 RCV002262637

NM_000243.3(MEFV):c.195C>T (p.Tyr65=)

SNV
Germline

Chr16:3256393

Conflicting classifications of pathogenicity

Familial Mediterranean fever
not specified
Condition: not provided
Autoinflammatory syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA280475

rs_104895077

9 SubmittersRCV000083726 RCV000587862 RCV001705807 RCV002262638 RCV003352768

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

Criteria Provided
Conflicting Classifications

CA280485

rs_104895087

4 SubmittersRCV000083730 RCV000768022 RCV003126439 RCV003224142 RCV003126440

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

Criteria Provided
Conflicting Classifications

CA280487

rs_104895088

7 SubmittersRCV000083731 RCV000414076 RCV003126441 RCV003126442 RCV002498439

NM_000243.3(MEFV):c.2038A>C (p.Met680Leu)

SNV
Germline

Chr16:3243449

Conflicting classifications of pathogenicity

Familial Mediterranean fever

Criteria Provided
Conflicting Classifications

CA280489

rs_104895089

3 SubmittersRCV000083732

NM_000243.3(MEFV):c.2049G>A (p.Ser683=)

SNV
Germline

Chr16:3243438

Conflicting classifications of pathogenicity

Familial Mediterranean fever
not specified
Condition: not provided
Inborn genetic diseases
Autoinflammatory syndrome

Criteria Provided
Conflicting Classifications

CA280493

rs_104895092

9 SubmittersRCV000083734 RCV001000131 RCV001705808 RCV002415584 RCV002262639

NM_000243.3(MEFV):c.2085G>C (p.Lys695Asn)

SNV
Germline

Chr16:3243402

Conflicting classifications of pathogenicity

Familial Mediterranean fever
not specified

Criteria Provided
Conflicting Classifications

CA280514

rs_104895208

3 SubmittersRCV000083742 RCV001001442

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

Criteria Provided
Conflicting Classifications

CA280523

rs_104895118

6 SubmittersRCV000083745 RCV001539987 RCV002498440 RCV003126446 RCV003126445

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

SNV
Germline

Chr16:3243377

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA280526

rs_104895096

4 SubmittersRCV000083746 RCV003126448 RCV003126447

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

SNV
Germline

Chr16:3243365

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA280530

rs_104895202

7 SubmittersRCV000083748 RCV000780404 RCV003126450 RCV002262641 RCV003126449

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

SNV
Germline

Chr16:3243327

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA280539

rs_104895102

9 SubmittersRCV000083751 RCV000780406 RCV003126452 RCV003126451 RCV004529874

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

SNV
Germline

Chr16:3243323

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA280541

rs_104895201

9 SubmittersRCV000083752 RCV001175016 RCV001701661 RCV003126454 RCV003126453

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

SNV
Germline

Chr16:3243318

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA280544

rs_104895117

4 SubmittersRCV000083753 RCV000780403 RCV003126455 RCV003126456

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

SNV
Germline

Chr16:3243258

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

CA280550

rs_104895152

7 SubmittersRCV000083755 RCV003126457 RCV003133133 RCV002483162 RCV003126458

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
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

CA280561

rs_104895194

6 SubmittersRCV000083759 RCV001562685 RCV002483163 RCV003126462 RCV003126461

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

SNV
Germline

Chr16:3243173

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
Acute febrile neutrophilic dermatosis

Criteria Provided
Conflicting Classifications

CA280566

rs_104895163

7 SubmittersRCV000083761 RCV000223191 RCV002498442 RCV003126463 RCV003126464

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

SNV
Germline

Chr16:3243150

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA280569

rs_104895153

7 SubmittersRCV000083762 RCV001704008 RCV002444555 RCV003126466 RCV003126465

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

SNV
Germline

Chr16:3243149

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA280572

rs_104895154

10 SubmittersRCV000083763 RCV000217446 RCV002262642 RCV003126468 RCV003126467 RCV002298469

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

SNV
Germline

Chr16:3256323

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
not specified

Criteria Provided
Conflicting Classifications

CA280577

rs_104895124

6 SubmittersRCV000083765 RCV002483164 RCV003126470 RCV003126469 RCV002281918

NM_000243.3(MEFV):c.297C>T (p.Asn99=)

SNV
Germline

Chr16:3254771

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA280580

rs_104895175

10 SubmittersRCV000083766 RCV000588269 RCV001276302 RCV001705809 RCV002262643 RCV002433593 RCV004542800

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

Criteria Provided
Conflicting Classifications

CA280583

rs_104895103

13 SubmittersRCV000083767 RCV000586697 RCV001000180 RCV002262644 RCV002321581 RCV003126472 RCV002477246 RCV003126471

NM_000243.3(MEFV):c.330G>A (p.Leu110=)

SNV
Germline

Chr16:3254738

Conflicting classifications of pathogenicity

Familial Mediterranean fever
not specified

Criteria Provided
Conflicting Classifications

CA280585

rs_104895177

4 SubmittersRCV000083768 RCV001175450

NM_000243.3(MEFV):c.372C>T (p.Pro124=)

SNV
Germline

Chr16:3254696

Conflicting classifications of pathogenicity

Familial Mediterranean fever
not specified
Condition: not provided
Autoinflammatory syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA280592

rs_104895078

10 SubmittersRCV000083771 RCV000507322 RCV001705810 RCV002262646 RCV002345406

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

SNV
Germline

Chr16:3254646

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA280601

rs_104895130

5 SubmittersRCV000083774 RCV003126476 RCV003126475 RCV002509206

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

SNV
Germline

Chr16:3254544

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA280615

rs_104895126

7 SubmittersRCV000083779 RCV001588911 RCV002490736 RCV002262647 RCV003126478 RCV003126477

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.586G>T (p.Gly196Trp)

SNV
Germline

Chr16:3254482

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA201518

rs_104895179

11 SubmittersRCV000083784 RCV000175563 RCV000587560 RCV001731372 RCV002262648 RCV004528779

NM_000243.3(MEFV):c.657C>T (p.Gly219=)

SNV
Germline

Chr16:3254411

Conflicting classifications of pathogenicity

Familial Mediterranean fever
not specified
Condition: not provided
Autoinflammatory syndrome
Inborn genetic diseases
MEFV-related disorder

Criteria Provided
Conflicting Classifications

CA280630

rs_104895182

8 SubmittersRCV000083786 RCV000251868 RCV001705811 RCV002262649 RCV003298137 RCV004528780

NM_000243.3(MEFV):c.663G>C (p.Pro221=)

SNV
Germline

Chr16:3254405

Conflicting classifications of pathogenicity

Familial Mediterranean fever
not specified
Autoinflammatory syndrome
Condition: not provided
MEFV-related disorder

Criteria Provided
Conflicting Classifications

CA280633

rs_104895162

6 SubmittersRCV000083787 RCV000126743 RCV002262650 RCV003884348 RCV004529875

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

Criteria Provided
Conflicting Classifications

CA280639

rs_104895080

13 SubmittersRCV000083789 RCV000213898 RCV002265603 RCV003224143 RCV001027835 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
Neuronal ceroid lipofuscinosis

Criteria Provided
Multiple Submitters
No Conflicts

CA280647

rs_104895127

3 SubmittersRCV000083792 RCV001804836 RCV004542801

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

SNV
Germline

Chr16:3254342

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Acute febrile neutrophilic dermatosis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA280650

rs_104895127

5 SubmittersRCV000083793 RCV001174523 RCV001172095

NM_000243.3(MEFV):c.726C>T (p.Ser242=)

SNV
Germline

Chr16:3254342

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Autoinflammatory syndrome

Criteria Provided
Conflicting Classifications

CA280651

rs_104895127

3 SubmittersRCV000083794 RCV002262652

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

Criteria Provided
Conflicting Classifications

CA280658

rs_104895144

11 SubmittersRCV000083797 RCV000587366 RCV001000132 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
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant

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

Criteria Provided
Conflicting Classifications

CA280673

rs_104895132

10 SubmittersRCV000083802 RCV000594000 RCV002262656 RCV002483165 RCV003114248 RCV003126494 RCV003126493

NM_000243.3(MEFV):c.926C>T (p.Thr309Met)

SNV
Germline

Chr16:3249765

Conflicting classifications of pathogenicity

Familial Mediterranean fever
not specified
Condition: not provided
Autoinflammatory syndrome

Criteria Provided
Conflicting Classifications

CA280681

rs_104895155

8 SubmittersRCV000083806 RCV000214115 RCV001719850 RCV002262657

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

Criteria Provided
Conflicting Classifications

CA280689

rs_104895112

17 SubmittersRCV000083809 RCV000585083 RCV000735285 RCV000855598 RCV001280973 RCV002262658 RCV003224144

NM_000243.3(MEFV):c.1587+33C>G

SNV
Germline

Chr16:3246983

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Condition: not provided
Familial Mediterranean fever, autosomal dominant

Criteria Provided
Conflicting Classifications

CA280886

rs_146820856

7 SubmittersRCV000084150 RCV000727205 RCV001274312

NM_000243.3(MEFV):c.549G>A (p.Pro183=)

SNV
Germline

Chr16:3254519

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Familial Mediterranean fever

Criteria Provided
Conflicting Classifications

CA292054

rs_587781035

5 SubmittersRCV000126741 RCV000757454 RCV000802334

NM_000243.3(MEFV):c.42G>A (p.Glu14=)

SNV
Germline

Chr16:3256546

Conflicting classifications of pathogenicity

not specified
Familial Mediterranean fever
Condition: not provided
Autoinflammatory syndrome
Inborn genetic diseases
MEFV-related disorder

Criteria Provided
Conflicting Classifications

CA292057

rs_113314808

10 SubmittersRCV000126744 RCV001081766 RCV001812067 RCV002262730 RCV002326835 RCV004544271

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

Criteria Provided
Conflicting Classifications

CA280902

rs_587783379

5 SubmittersRCV000148289 RCV002515994 RCV003126542 RCV003126543 RCV000589662

NM_000243.3(MEFV):c.329T>C (p.Leu110Pro)

SNV
Germline

Chr16:3254739

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Familial Mediterranean fever
Autoinflammatory syndrome

Criteria Provided
Conflicting Classifications

CA201524

rs_11466018

12 SubmittersRCV000175565 RCV000588731 RCV001083220 RCV002262770

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
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

CA7859869

rs_758628487

3 SubmittersRCV000219567 RCV002500741 RCV003126641 RCV003126639 RCV003126640

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

SNV
Germline

Chr16:3243447

Pathogenic/Likely pathogenic

Condition: not provided
Familial Mediterranean fever

Criteria Provided
Multiple Submitters
No Conflicts

CA10577519

rs_28940580

2 SubmittersRCV000220209 RCV003605614

NM_000243.3(MEFV):c.1382G>A (p.Arg461Gln)

SNV
Germline

Chr16:3247221

Conflicting classifications of pathogenicity

Condition: not provided
Familial Mediterranean fever

Criteria Provided
Conflicting Classifications

CA7860140

rs_145637617

4 SubmittersRCV000589998 RCV001089281

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

SNV
Germline

Chr16:3248928

Conflicting classifications of pathogenicity

Condition: not provided
Familial Mediterranean fever
Autoinflammatory syndrome
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

CA7860180

rs_749651486

6 SubmittersRCV000219419 RCV000632789 RCV002262826 RCV003126637 RCV002478821 RCV003126638

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

SNV
Germline

Chr16:3249732

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

CA7860264

rs_374412819

5 SubmittersRCV000217797 RCV001349028 RCV002485438 RCV003126628 RCV003126627

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
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis

Criteria Provided
Conflicting Classifications

CA7860240

rs_377754606

4 SubmittersRCV000214481 RCV001833230 RCV002478820 RCV003126635 RCV003126636

NM_000243.3(MEFV):c.826G>T (p.Glu276Ter)

SNV
Germline

Chr16:3254242

Conflicting classifications of pathogenicity

Condition: not provided
Familial Mediterranean fever

Criteria Provided
Conflicting Classifications

CA10577520

rs_876660995

2 SubmittersRCV000217401 RCV002519745

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
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

CA7860401

rs_202196752

6 SubmittersRCV000213498 RCV001247010 RCV002262822 RCV002500739 RCV003126626 RCV003126625

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 RCV003126622 RCV002494603

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

Criteria Provided
Conflicting Classifications

CA10577524

rs_876660991

3 SubmittersRCV000215134 RCV002478819 RCV003126620 RCV003126619 RCV003126621

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
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis

Criteria Provided
Conflicting Classifications

CA10577525

rs_876660990

4 SubmittersRCV000222115 RCV000781527 RCV000818575 RCV003126617 RCV003126618

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

Criteria Provided
Conflicting Classifications

CA10577526

rs_876660989

4 SubmittersRCV000218405 RCV000688336 RCV003126616 RCV003126615

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

SNV
Germline

Chr16:3256355

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7860501

rs_145015653

4 SubmittersRCV000215498 RCV001121438 RCV003126634 RCV003126633

NM_000243.3(MEFV):c.124C>T (p.Arg42Trp)

SNV
Germline

Chr16:3256464

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Condition: not provided
not specified
Autoinflammatory syndrome

Criteria Provided
Conflicting Classifications

CA7860530

rs_61754767

8 SubmittersRCV000632798 RCV000757453 RCV000780402 RCV002262821

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

SNV
Germline

Chr16:3254457

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7860378

rs_775663363

6 SubmittersRCV000491523 RCV001804980 RCV003126650 RCV003126649 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

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
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

CA7860178

rs_756322372

9 SubmittersRCV000398473 RCV001044845 RCV001264418 RCV002487174 RCV003126659 RCV003126660

NM_000243.3(MEFV):c.932C>T (p.Ala311Val)

SNV
Germline

Chr16:3249759

Conflicting classifications of pathogenicity

Condition: not provided
Familial Mediterranean fever
not specified

Criteria Provided
Conflicting Classifications

CA7860272

rs_74346519

5 SubmittersRCV000725291 RCV001089437 RCV003155142

NM_000243.3(MEFV):c.744T>C (p.Ser248=)

SNV
Germline

Chr16:3254324

Conflicting classifications of pathogenicity

Condition: not provided
Familial Mediterranean fever

Criteria Provided
Conflicting Classifications

CA7860340

rs_750362154

2 SubmittersRCV000274837 RCV001403432

NM_000243.3(MEFV):c.585G>A (p.Glu195=)

SNV
Germline

Chr16:3254483

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Inborn genetic diseases
Autoinflammatory syndrome
Familial Mediterranean fever

Criteria Provided
Conflicting Classifications

CA7860389

rs_200766991

9 SubmittersRCV000394728 RCV001711853 RCV002356371 RCV002262922 RCV000272525

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

SNV
Germline

Chr16:3243530

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7859890

rs_375716505

5 SubmittersRCV000587289 RCV001276186 RCV003126664 RCV003126665

NM_000243.3(MEFV):c.1527C>T (p.Leu509=)

SNV
Germline

Chr16:3247076

Conflicting classifications of pathogenicity

Familial Mediterranean fever

Criteria Provided
Conflicting Classifications

CA7860110

rs_571832030

3 SubmittersRCV000380391

NM_000243.3(MEFV):c.1522C>T (p.Leu508=)

SNV
Germline

Chr16:3247081

Conflicting classifications of pathogenicity

Familial Mediterranean fever

Criteria Provided
Conflicting Classifications

CA10637684

rs_199937453

2 SubmittersRCV000286090

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

Criteria Provided
Conflicting Classifications

CA10637690

rs_150730718

6 SubmittersRCV000336445 RCV001358002 RCV002487407 RCV003126669 RCV003126668

NM_000243.3(MEFV):c.1173T>C (p.Asp391=)

SNV
Germline

Chr16:3249518

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7860223

rs_146077729

6 SubmittersRCV000311158 RCV001706508 RCV004021658

NM_000243.3(MEFV):c.651G>C (p.Ala217=)

SNV
Germline

Chr16:3254417

Conflicting classifications of pathogenicity

Familial Mediterranean fever

Criteria Provided
Conflicting Classifications

CA10643571

rs_886051971

2 SubmittersRCV000307645

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.564C>T (p.Pro188=)

SNV
Germline

Chr16:3254504

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7860398

rs_775755423

7 SubmittersRCV000327623 RCV000829169

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

SNV
Germline

Chr16:3254779

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7860464

rs_747515115

5 SubmittersRCV000293866 RCV002480142 RCV003126673 RCV003126672 RCV002522844

NM_000243.3(MEFV):c.-15C>G

SNV
Germline

Chr16:3256602

Conflicting classifications of pathogenicity

Familial Mediterranean fever
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7860557

rs_11466015

5 SubmittersRCV000294823 RCV000438166 RCV001718665

NM_000243.3(MEFV):c.*74C>T

SNV
Germline

Chr16:3243067

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10648332

rs_11466050

2 SubmittersRCV000277511 RCV001561500

NM_000243.3(MEFV):c.1803T>A (p.Ile601=)

SNV
Germline

Chr16:3243684

Conflicting classifications of pathogenicity

Familial Mediterranean fever
not specified
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7859911

rs_779572391

6 SubmittersRCV000329543 RCV000507285 RCV001090249 RCV002411210

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.66G>A (p.Glu22=)

SNV
Germline

Chr16:3256522

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7860542

rs_569040282

3 SubmittersRCV000398218 RCV002365373

NM_000243.3(MEFV):c.1730C>A (p.Thr577Asn)

SNV
Germline

Chr16:3244283

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10654935

rs_1057516210

3 SubmittersRCV000408827 RCV001269727

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

SNV
Germline

Chr16:3249592

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16044017

rs_1057519328

6 SubmittersRCV000416346 RCV001805036 RCV002480275 RCV002521488 RCV003126719 RCV003133255 RCV003126718

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

SNV
Germline

Chr16:3243195

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Familial Mediterranean fever
Autoinflammatory syndrome

Criteria Provided
Conflicting Classifications

CA7859840

rs_142352887

8 SubmittersRCV000429125 RCV001000190 RCV000989470 RCV002263677

NM_000243.3(MEFV):c.1459G>C (p.Val487Leu)

SNV
Germline

Chr16:3247144

Conflicting classifications of pathogenicity

not specified
Familial Mediterranean fever
Condition: not provided
Autoinflammatory syndrome
Familial Mediterranean fever, autosomal dominant

Criteria Provided
Conflicting Classifications

CA7860122

rs_104895100

8 SubmittersRCV000439116 RCV000531412 RCV001712195 RCV002263676 RCV003150813

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

Criteria Provided
Conflicting Classifications

CA7860418

rs_759997694

5 SubmittersRCV000432274 RCV001835805 RCV002506080 RCV003126739 RCV003126738

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

SNV
Germline

Chr16:3244243

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

CA7860003

rs_370349451

4 SubmittersRCV000506579 RCV002056907 RCV003126783 RCV002506235 RCV003126782

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.1458C>T (p.Asp486=)

SNV
Germline

Chr16:3247145

Conflicting classifications of pathogenicity

not specified
Familial Mediterranean fever
Autoinflammatory syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7860123

rs_147767925

4 SubmittersRCV000507087 RCV000908449 RCV002263714 RCV002395226

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

SNV
Germline

Chr16:3246517

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
Acute febrile neutrophilic dermatosis
MEFV-related disorder

Criteria Provided
Conflicting Classifications

CA7860071

rs_765410591

5 SubmittersRCV001429606 RCV001810995 RCV002496968 RCV003126778 RCV003126779 RCV004541587

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

SNV
Germline

Chr16:3254282

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7860330

rs_575521131

4 SubmittersRCV000505968 RCV001410018 RCV003126781 RCV003126780

NM_000243.3(MEFV):c.*9C>T

SNV
Germline

Chr16:3243132

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Familial Mediterranean fever
Autoinflammatory syndrome
MEFV-related disorder

Criteria Provided
Conflicting Classifications

CA7859833

rs_11466048

10 SubmittersRCV000514937 RCV000722126 RCV001079215 RCV002263721 RCV004535656

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

SNV
Germline

Chr16:3254779

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7860463

rs_747515115

5 SubmittersRCV000514677 RCV000632795 RCV002263722 RCV003126786 RCV003126787

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

SNV
Germline

Chr16:3249520

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

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
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

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
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

CA7860213

rs_758868622

5 SubmittersRCV000540246 RCV002263736 RCV002506300 RCV003126798 RCV003126797

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

7 SubmittersRCV000588308 RCV001083427 RCV002263740 RCV003126805 RCV002431547 RCV003126806

NM_000243.3(MEFV):c.198C>T (p.Ala66=)

SNV
Germline

Chr16:3256390

Conflicting classifications of pathogenicity

Familial Mediterranean fever
not specified
Condition: not provided
Autoinflammatory syndrome

Criteria Provided
Conflicting Classifications

CA7860511

rs_149380763

5 SubmittersRCV000549424 RCV000589254 RCV001712489 RCV002263739

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

SNV
Germline

Chr16:3243589

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

CA276955244

rs_976279218

4 SubmittersRCV000534641 RCV003126804 RCV003126803 RCV002490969

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

Criteria Provided
Conflicting Classifications

CA7860112

rs_190705322

9 SubmittersRCV000530643 RCV001775848 RCV002263738 RCV003126801 RCV002490968 RCV003126802

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

SNV
Germline

Chr16:3249468

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA394469353

rs_11466024

7 SubmittersRCV000532782 RCV001591200 RCV002483374 RCV002263737 RCV003126800 RCV003126799

NM_000243.3(MEFV):c.1779T>A (p.Ala593=)

SNV
Germline

Chr16:3243873

Conflicting classifications of pathogenicity

Condition: not provided
Familial Mediterranean fever
Autoinflammatory syndrome

Criteria Provided
Conflicting Classifications

CA7859929

rs_377657099

4 SubmittersRCV000585564 RCV001401924 RCV002263816

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
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis
MEFV-related disorder

Criteria Provided
Conflicting Classifications

CA7859844

rs_772754956

6 SubmittersRCV000589667 RCV000939022 RCV001811088 RCV002483565 RCV003126834 RCV003126835 RCV004530641

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

Criteria Provided
Conflicting Classifications

CA7860243

rs_763015849

6 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
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever, autosomal dominant

Criteria Provided
Conflicting Classifications

CA276896167

rs_922232615

4 SubmittersRCV000587448 RCV001829616 RCV002476273 RCV003126833 RCV003126832

NM_000243.3(MEFV):c.1587+7G>A

SNV
Germline

Chr16:3247009

Conflicting classifications of pathogenicity

not specified
Familial Mediterranean fever
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7860098

rs_375555497

3 SubmittersRCV000590407 RCV000927730 RCV003117357

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

SNV
Germline

Chr16:3256472

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

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

5 SubmittersRCV000756332 RCV001083401 RCV002499046 RCV003126886 RCV003126885

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

SNV
Germline

Chr16:3249599

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Condition: not provided
Autoinflammatory syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7860234

rs_11466022

6 SubmittersRCV000757452 RCV001619816 RCV002263850 RCV002448947

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

SNV
Germline

Chr16:3247099

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

CA7860114

rs_140462252

4 SubmittersRCV000632788 RCV002507067 RCV003126880 RCV003126879

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

SNV
Germline

Chr16:3243872

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7859928

rs_780770024

4 SubmittersRCV000632791 RCV003126882 RCV003126881 RCV001815355 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, autosomal dominant
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant

Criteria Provided
Conflicting Classifications

rs_151306047

4 SubmittersRCV000701319 RCV003126914 RCV003126913 RCV002493230

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

SNV
Germline

Chr16:3254737

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
MEFV-related disorder

Criteria Provided
Conflicting Classifications

rs_112739451

6 SubmittersRCV000756333 RCV001201760 RCV003126926 RCV002477737 RCV003126925 RCV004535889

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

Criteria Provided
Conflicting Classifications

rs_150819742

5 SubmittersRCV000779184 RCV001002344 RCV003465710

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

SNV
Germline

Chr16:3244556

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_550970304

6 SubmittersRCV000781531 RCV000792803 RCV001555989 RCV002263975 RCV003126935 RCV003126934

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

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

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

Criteria Provided
Conflicting Classifications

rs_775755423

3 SubmittersRCV000781526 RCV001501166 RCV003126933 RCV003126932

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

SNV
Germline

Chr16:3256349

Conflicting classifications of pathogenicity

not specified
Familial Mediterranean fever
Condition: not provided
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

rs_201075710

7 SubmittersRCV000781524 RCV001273730 RCV001561342 RCV003126931 RCV003126930 RCV002487611

NM_000243.3(MEFV):c.1759+7C>T

SNV
Germline

Chr16:3244247

Conflicting classifications of pathogenicity

not specified
Familial Mediterranean fever
Autoinflammatory syndrome

Criteria Provided
Conflicting Classifications

rs_772667365

4 SubmittersRCV000780409 RCV001825529 RCV002263974

NM_000243.3(MEFV):c.911-12G>A

SNV
Germline

Chr16:3249792

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Familial Mediterranean fever

Criteria Provided
Conflicting Classifications

rs_372016564

3 SubmittersRCV000780407 RCV000828031 RCV002067369

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

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

Criteria Provided
Conflicting Classifications

rs_762605919

5 SubmittersRCV000795051 RCV001776003 RCV002263985 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

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
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever, autosomal dominant

Criteria Provided
Conflicting Classifications

rs_139313647

5 SubmittersRCV000820957 RCV001281042 RCV002487836 RCV003127477 RCV003127476

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

SNV
Germline

Chr16:3254482

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

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
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever, autosomal dominant

Criteria Provided
Conflicting Classifications

rs_104895125

7 SubmittersRCV000823143 RCV001507334 RCV003127479 RCV003127478

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

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

Criteria Provided
Conflicting Classifications

rs_224224

6 SubmittersRCV000829179 RCV001088841 RCV002501163 RCV003127485 RCV004029209 RCV003127486

NM_000243.3(MEFV):c.948C>T (p.His316=)

SNV
Germline

Chr16:3249743

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Condition: not provided
Autoinflammatory syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_150252937

6 SubmittersRCV000875656 RCV001712821 RCV002264037 RCV002372487

NM_000243.3(MEFV):c.1610+10G>T

SNV
Germline

Chr16:3246515

Conflicting classifications of pathogenicity

Familial Mediterranean fever
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_11466033

4 SubmittersRCV000875053 RCV001193205 RCV001692309

NM_000243.3(MEFV):c.1038C>G (p.Gly346=)

SNV
Germline

Chr16:3249653

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Inborn genetic diseases
MEFV-related disorder

Criteria Provided
Conflicting Classifications

rs_141090517

5 SubmittersRCV000907142 RCV002390892 RCV004531049

NM_000243.3(MEFV):c.2149C>T (p.Arg717Cys)

SNV
Germline

Chr16:3243338

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Condition: not provided
Autoinflammatory syndrome
MEFV-related disorder

Criteria Provided
Conflicting Classifications

rs_104895192

5 SubmittersRCV000916352 RCV001310310 RCV002264090 RCV004543438

NM_000243.3(MEFV):c.801A>G (p.Thr267=)

SNV
Germline

Chr16:3254267

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_141455838

4 SubmittersRCV000925002 RCV002416152

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

SNV
Germline

Chr16:3256540

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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_777381107

6 SubmittersRCV000914758 RCV001655645 RCV002505350 RCV003127546 RCV003127545 RCV003307683

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

SNV
Germline

Chr16:3248921

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

rs_143337771

4 SubmittersRCV000939111 RCV002489258 RCV003127550 RCV003127549

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

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

Criteria Provided
Conflicting Classifications

rs_575678784

4 SubmittersRCV000932960 RCV002307644 RCV002505387

NM_000243.3(MEFV):c.344C>G (p.Pro115Arg)

SNV
Germline

Chr16:3254724

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_201766654

3 SubmittersRCV000941478 RCV001811542

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
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis
MEFV-related disorder

Criteria Provided
Conflicting Classifications

rs_139899201

5 SubmittersRCV000939112 RCV001655646 RCV002502875 RCV003127551 RCV003127552 RCV004543517

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

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
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

rs_545517350

6 SubmittersRCV000989472 RCV001002516 RCV002479155 RCV003127564 RCV003127563

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

SNV
Germline

Chr16:3243337

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

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
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis

Criteria Provided
Conflicting Classifications

rs_967990798

3 SubmittersRCV000989476 RCV003127567 RCV003127568

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

SNV
Germline

Chr16:3243598

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

rs_376579860

5 SubmittersRCV000989477 RCV002489460 RCV003127569 RCV003127570

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

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
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

rs_387907566

5 SubmittersRCV001002108 RCV001827156 RCV003127580 RCV002481799 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, autosomal dominant
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis

Criteria Provided
Conflicting Classifications

rs_1306636942

4 SubmittersRCV001002490 RCV001218918 RCV003127583 RCV003127582 RCV002505532

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

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

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

Criteria Provided
Conflicting Classifications

rs_952604863

4 SubmittersRCV001071930 RCV002489718 RCV003127622 RCV003127623

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
Acute febrile neutrophilic dermatosis

Criteria Provided
Conflicting Classifications

rs_199937453

4 SubmittersRCV001066615 RCV001274313 RCV001811638 RCV003127618

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

SNV
Germline

Chr16:3249718

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

rs_146862274

4 SubmittersRCV001058593 RCV002505619 RCV003127610 RCV003127609

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
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever, autosomal dominant

Criteria Provided
Conflicting Classifications

rs_775020273

4 SubmittersRCV001052237 RCV002505600 RCV003127606 RCV003127605

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

SNV
Germline

Chr16:3254520

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Inborn genetic diseases
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

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

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

Criteria Provided
Conflicting Classifications

rs_753623518

3 SubmittersRCV001090251 RCV002489726 RCV003127626 RCV003127627 RCV003127625

NM_000243.3(MEFV):c.*190G>C

SNV
Germline

Chr16:3242951

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_114930858

2 SubmittersRCV001117675 RCV001564541

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

Criteria Provided
Conflicting Classifications

rs_1281153557

3 SubmittersRCV001121251 RCV003127636 RCV003127635 RCV002491374

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

Criteria Provided
Conflicting Classifications

rs_202228332

5 SubmittersRCV001116331 RCV003127634 RCV003127633

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

Criteria Provided
Conflicting Classifications

rs_11466023

6 SubmittersRCV001121353 RCV001174702 RCV002482225 RCV003127638 RCV003127637

NM_000243.3(MEFV):c.1356+11A>C

SNV
Germline

Chr16:3248898

Conflicting classifications of pathogenicity

not specified
Familial Mediterranean fever

Criteria Provided
Conflicting Classifications

rs_548648384

2 SubmittersRCV001174703 RCV002068125

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

SNV
Germline

Chr16:3247102

Conflicting classifications of pathogenicity

not specified
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

rs_104895101

4 SubmittersRCV001175537 RCV001833735 RCV002505757 RCV003127674 RCV003127673

NM_000243.3(MEFV):c.1261-13G>A

SNV
Germline

Chr16:3249017

Conflicting classifications of pathogenicity

not specified
Familial Mediterranean fever

Criteria Provided
Conflicting Classifications

rs_778114467

2 SubmittersRCV001192543 RCV002069202

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

SNV
Germline

Chr16:3248941

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

rs_779558690

4 SubmittersRCV001216264 RCV002480711 RCV003127691 RCV003127690

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

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
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

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

Criteria Provided
Conflicting Classifications

rs_923516953

3 SubmittersRCV001225884 RCV002497768 RCV003127700 RCV003127699

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

SNV
Germline

Chr16:3243370

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

rs_202174893

4 SubmittersRCV001246070 RCV002484375 RCV003127728 RCV003127727

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

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

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
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

rs_766670643

5 SubmittersRCV001240669 RCV002480800 RCV003127720 RCV003127719

NM_000243.3(MEFV):c.214C>T (p.Gln72Ter)

SNV
Germline

Chr16:3256374

Pathogenic

Familial Mediterranean fever

Criteria Provided
Single Submitter

rs_1959115414

1 SubmittersRCV001247730

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

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
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

rs_749730274

4 SubmittersRCV001280658 RCV003127750 RCV003127748 RCV003127749 RCV002499490

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

Criteria Provided
Conflicting Classifications

rs_981883034

5 SubmittersRCV001812486 RCV001835362 RCV002499494 RCV003127754 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

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
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis

Criteria Provided
Conflicting Classifications

rs_777199024

3 SubmittersRCV001303574 RCV002486172 RCV003127776 RCV003127777

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

SNV
Germline

Chr16:3254593

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

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

rs_756029520

4 SubmittersRCV001307126 RCV002476413 RCV003127786 RCV003127787

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

SNV
Germline

Chr16:3256389

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

rs_1422054832

4 SubmittersRCV001310311 RCV001871759 RCV002476438 RCV003127791 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

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

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

Criteria Provided
Conflicting Classifications

rs_376971129

4 SubmittersRCV001360070 RCV003127832 RCV003127833 RCV002504590

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

Criteria Provided
Conflicting Classifications

rs_144716190

4 SubmittersRCV001374636 RCV002488189 RCV003127857 RCV003127856

NM_000243.3(MEFV):c.150G>A (p.Pro50=)

SNV
Germline

Chr16:3256438

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Autoinflammatory syndrome

Criteria Provided
Conflicting Classifications

rs_376952748

2 SubmittersRCV001395412 RCV002264296

NM_000243.3(MEFV):c.99G>A (p.Val33=)

SNV
Germline

Chr16:3256489

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Autoinflammatory syndrome
MEFV-related disorder

Criteria Provided
Conflicting Classifications

rs_767848974

3 SubmittersRCV001424380 RCV002264309 RCV004540301

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

SNV
Germline

Chr16:3244522

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_144672997

3 SubmittersRCV001476425 RCV003127954 RCV002405127 RCV003127953

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

Criteria Provided
Conflicting Classifications

rs_771061550

3 SubmittersRCV001453535 RCV002506530 RCV003127922 RCV003127921

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

SNV
Germline

Chr16:3254303

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

rs_771714168

3 SubmittersRCV001477286 RCV002501648 RCV003127956 RCV003127955

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

SNV
Germline

Chr16:3247202

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1398639205

3 SubmittersRCV003127976 RCV002495762 RCV003127975 RCV001500707

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

rs_567739580

3 SubmittersRCV001486338 RCV002414178 RCV003127962 RCV003127961

NM_000243.3(MEFV):c.840G>A (p.Arg280=)

SNV
Germline

Chr16:3254228

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Autoinflammatory syndrome

Criteria Provided
Conflicting Classifications

rs_748624682

2 SubmittersRCV001489672 RCV002264351

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

rs_547393490

4 SubmittersRCV001486689 RCV002495726 RCV003127964 RCV003127963 RCV002414179

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

SNV
Unknown

Chr16:3247093

Pathogenic

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

Criteria Provided
Single Submitter

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

rs_773320625

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

Criteria Provided
Conflicting Classifications

rs_752973530

3 SubmittersRCV001757430 RCV003125902 RCV003125901 RCV002503238 RCV003125903

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

SNV
Germline

Chr16:3249667

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_774397209

3 SubmittersRCV001779667 RCV001868828 RCV003125905 RCV003125904

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

SNV
Germline

Chr16:3243200

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_2141664466

3 SubmittersRCV001785241 RCV001885199 RCV003125906

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

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

Criteria Provided
Conflicting Classifications

rs_757216434

3 SubmittersRCV001897894 RCV002482663 RCV003125954 RCV003125953

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

SNV
Germline

Chr16:3244514

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

rs_1033941048

3 SubmittersRCV001990757 RCV002507721 RCV003126049 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

rs_749052818

3 SubmittersRCV001974306 RCV002492214 RCV003126062 RCV003126061

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

SNV
Germline

Chr16:3254460

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1959084389

3 SubmittersRCV001995528 RCV002264442 RCV003126069 RCV003126070

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

SNV
Germline

Chr16:3256520

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

rs_754679070

3 SubmittersRCV001896285 RCV002506976 RCV003125958 RCV003125957

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

SNV
Germline

Chr16:3249758

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

rs_774547197

3 SubmittersRCV002208387 RCV002502028 RCV003126200 RCV003126199

NM_000243.3(MEFV):c.1261-10G>C

SNV
Germline

Chr16:3249014

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Autoinflammatory syndrome

Criteria Provided
Conflicting Classifications

rs_767528614

2 SubmittersRCV002121853 RCV002264467

NM_000243.3(MEFV):c.1782G>A (p.Gln594=)

SNV
Germline

Chr16:3243870

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_144122901

2 SubmittersRCV002148999 RCV003120833

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

SNV
Germline

Chr16:3254642

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

rs_1465332482

3 SubmittersRCV002113550 RCV002499997 RCV003126159 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

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

Criteria Provided
Conflicting Classifications

rs_772332566

4 SubmittersRCV002262060 RCV002502075 RCV003095938 RCV003126208 RCV003126209

NM_000243.3(MEFV):c.390C>T (p.Asn130=)

SNV
Germline

Chr16:3254678

Conflicting classifications of pathogenicity

Autoinflammatory syndrome
Familial Mediterranean fever

Criteria Provided
Conflicting Classifications

rs_780976880

2 SubmittersRCV002262063 RCV003774818