Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000551.4(VHL):c.548C>A (p.Ser183Ter)	SNV Germline/somatic	Chr3:10149871	Pathogenic	Papillary renal cell carcinoma type 1 Von Hippel-Lindau syndrome Von Hippel-Lindau syndrome Chuvash polycythemia Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA020473	rs_5030823	6 SubmittersRCV000002299 RCV000208867 RCV000703889 RCV003162205
NM_000551.4(VHL):c.499C>T (p.Arg167Trp)	SNV Germline	Chr3:10149822	Pathogenic/Likely pathogenic	Pheochromocytoma Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Condition: not provided Von Hippel-Lindau syndrome Chuvash polycythemia Von Hippel-Lindau syndrome Nonpapillary renal cell carcinoma Chuvash polycythemia Pheochromocytoma Chuvash polycythemia	Criteria Provided Multiple Submitters No Conflicts	CA020450	rs_5030820	18 SubmittersRCV000002303 RCV000002302 RCV000132159 RCV000213079 RCV000627746 RCV000763092 RCV003992144
NM_000551.4(VHL):c.598C>T (p.Arg200Trp)	SNV Germline	Chr3:10149921	Conflicting classifications of pathogenicity	Chuvash polycythemia not specified Von Hippel-Lindau syndrome Condition: not provided Acute leukemia of ambiguous lineage Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome Chuvash polycythemia VHL-related disorder Nonpapillary renal cell carcinoma Von Hippel-Lindau syndrome Pheochromocytoma Chuvash polycythemia Nonpapillary renal cell carcinoma	Criteria Provided Conflicting Classifications	CA020510	rs_28940298	24 SubmittersRCV000002320 RCV000122262 RCV000148922 RCV000161094 RCV000722031 RCV000574264 RCV000627742 RCV004742206 RCV002247239 RCV005024991
NM_000551.4(VHL):c.574C>T (p.Pro192Ser)	SNV Germline	Chr3:10149897	Conflicting classifications of pathogenicity	Chuvash polycythemia Condition: not provided Von Hippel-Lindau syndrome Chuvash polycythemia Von Hippel-Lindau syndrome Nonpapillary renal cell carcinoma Chuvash polycythemia Pheochromocytoma Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA020501	rs_28940300	8 SubmittersRCV000002322 RCV000236065 RCV000704063 RCV002490296 RCV001024480 RCV003996075
NM_144997.7(FLCN):c.1333G>A (p.Ala445Thr)	SNV Germline/somatic	Chr17:17215284	Conflicting classifications of pathogenicity	Carcinoma of colon Condition: not provided not specified Hereditary cancer-predisposing syndrome Birt-Hogg-Dube syndrome Familial spontaneous pneumothorax Birt-Hogg-Dube syndrome 1 Colorectal cancer Nonpapillary renal cell carcinoma 17p11.2 microduplication syndrome Familial spontaneous pneumothorax	Criteria Provided Conflicting Classifications	CA159795	rs_41419545	27 SubmittersRCV000003537 RCV000034789 RCV000121112 RCV000163302 RCV000232087 RCV000336471 RCV005394109
NM_000458.4(HNF1B):c.529C>T (p.Arg177Ter)	SNV Germline	Chr17:37739455	Pathogenic	Renal cysts and diabetes syndrome Condition: not provided Nonpapillary renal cell carcinoma Renal cysts and diabetes syndrome Type 2 diabetes mellitus	Criteria Provided Multiple Submitters No Conflicts	CA122597	rs_1800575	7 SubmittersRCV000013470 RCV001851826 RCV002496342
NM_000458.4(HNF1B):c.826C>T (p.Arg276Ter)	SNV Germline	Chr17:37731814	Pathogenic	Renal cysts and diabetes syndrome Autosomal dominant medullary cystic kidney disease with or without hyperuricemia Condition: not provided Nonpapillary renal cell carcinoma Type 2 diabetes mellitus Renal cysts and diabetes syndrome Maturity onset diabetes mellitus in young	Criteria Provided Multiple Submitters No Conflicts	CA122601	rs_121918672	11 SubmittersRCV000013475 RCV001328308 RCV002472930 RCV002496343 RCV004689416
NM_000458.4(HNF1B):c.544+1G>A	SNV Germline	Chr17:37739439	Pathogenic/Likely pathogenic	Renal cysts and diabetes syndrome Nonpapillary renal cell carcinoma Renal cysts and diabetes syndrome Type 2 diabetes mellitus Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA398750998	rs_1568670479	7 SubmittersRCV000013478 RCV002504781 RCV001794444
NM_000458.4(HNF1B):c.494G>A (p.Arg165His)	SNV Germline	Chr17:37739490	Pathogenic/Likely pathogenic	Renal cysts and diabetes syndrome Type 2 diabetes mellitus Nonpapillary renal cell carcinoma Renal cysts and diabetes syndrome Type 2 diabetes mellitus Condition: not provided Maturity onset diabetes mellitus in young	Criteria Provided Multiple Submitters No Conflicts	CA122605	rs_121918675	14 SubmittersRCV000013482 RCV002482860 RCV002466400 RCV001659694 RCV002051783
NM_000245.4(MET):c.3392T>C (p.Met1131Thr)	SNV Germline	Chr7:116778827	Pathogenic/Likely pathogenic	Papillary renal cell carcinoma type 1 Hereditary cancer-predisposing syndrome Renal cell carcinoma Hereditary papillary renal cell carcinoma	Criteria Provided Multiple Submitters No Conflicts	CA256991	rs_121913668	4 SubmittersRCV000014895 RCV000565834 RCV002228027 RCV005600617
NM_000245.4(MET):c.3562G>T (p.Val1188Leu)	SNV Germline	Chr7:116782027	Pathogenic	Papillary renal cell carcinoma type 1	No Assertion Criteria Provided	CA256994	rs_121913669	1 SubmittersRCV000014896
NM_000245.4(MET):c.3658G>A (p.Val1220Ile)	SNV Germline	Chr7:116783329	Pathogenic/Likely pathogenic	Papillary renal cell carcinoma type 1 Hereditary cancer-predisposing syndrome Condition: not provided Renal cell carcinoma	Criteria Provided Multiple Submitters No Conflicts	CA256997	rs_121913670	5 SubmittersRCV000014897 RCV000221989 RCV001579843 RCV001376555
NM_000245.4(MET):c.3682G>A (p.Asp1228Asn)	SNV Germline	Chr7:116783353	Pathogenic	Papillary renal cell carcinoma type 1	No Assertion Criteria Provided	CA257000	rs_121913671	1 SubmittersRCV000014898
NM_000245.4(MET):c.3689A>G (p.Tyr1230Cys)	SNV Germline	Chr7:116783360	Conflicting classifications of pathogenicity	Papillary renal cell carcinoma type 1 Renal cell carcinoma Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA257003	rs_121913246	4 SubmittersRCV000014899 RCV001851861 RCV002362584
NM_000245.4(MET):c.3281A>G (p.His1094Arg)	SNV Germline	Chr7:116777410	Pathogenic/Likely pathogenic	Papillary renal cell carcinoma type 1 Condition: not provided Renal cell carcinoma Hereditary cancer-predisposing syndrome MET-related disorder Hepatocellular carcinoma Autosomal recessive nonsyndromic hearing loss 97 Osteofibrous dysplasia Arthrogryposis, distal, IIa 11 Papillary renal cell carcinoma type 1	Criteria Provided Multiple Submitters No Conflicts	CA221506	rs_121913243	8 SubmittersRCV000014901 RCV000079490 RCV001376564 RCV002321481 RCV003407332 RCV005394153
NM_000458.4(HNF1B):c.1006C>T (p.His336Tyr)	SNV Germline	Chr17:37731634	Conflicting classifications of pathogenicity	Renal cysts and diabetes syndrome Condition: not provided HNF1B-related disorder Type 2 diabetes mellitus Renal cysts and diabetes syndrome Nonpapillary renal cell carcinoma	Criteria Provided Conflicting Classifications	CA214343	rs_138986885	6 SubmittersRCV000030518 RCV001852605 RCV003398576 RCV005007901
NM_000458.4(HNF1B):c.73G>T (p.Val25Leu)	SNV Germline/somatic	Chr17:37744812	Conflicting classifications of pathogenicity	Renal cysts and diabetes syndrome not specified Condition: not provided Maturity onset diabetes mellitus in young Nonpapillary renal cell carcinoma	Criteria Provided Conflicting Classifications	CA214365	rs_139107479	10 SubmittersRCV000030533 RCV000345835 RCV002054524 RCV002250467 RCV003315522
NM_000551.4(VHL):c.371C>T (p.Thr124Ile)	SNV Germline	Chr3:10146544	Pathogenic/Likely pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary pheochromocytoma-paraganglioma Chuvash polycythemia Von Hippel-Lindau syndrome Nonpapillary renal cell carcinoma Pheochromocytoma	Criteria Provided Multiple Submitters No Conflicts	CA020308	rs_193922610	5 SubmittersRCV000679036 RCV004678597 RCV005222710 RCV005237435 RCV005394178
NM_000245.4(MET):c.2908C>T (p.Arg970Cys)	SNV Germline	Chr7:116771869	Conflicting classifications of pathogenicity	Condition: not provided not specified Papillary renal cell carcinoma type 1 Hereditary cancer-predisposing syndrome Renal cell carcinoma MET-related disorder Hepatocellular carcinoma Autosomal recessive nonsyndromic hearing loss 97 Osteofibrous dysplasia Arthrogryposis, distal, IIa 11 Papillary renal cell carcinoma type 1	Criteria Provided Conflicting Classifications	CA160413	rs_34589476	26 SubmittersRCV000034528 RCV000121339 RCV000123119 RCV000131706 RCV001507128 RCV003914903 RCV005394192
NM_000245.4(MET):c.2975C>T (p.Thr992Ile)	SNV Germline/somatic	Chr7:116771936	Conflicting classifications of pathogenicity	Condition: not provided not specified Papillary renal cell carcinoma type 1 Hereditary cancer-predisposing syndrome Congenital diaphragmatic hernia Renal cell carcinoma Classic Hodgkin lymphoma MET-related disorder Hepatocellular carcinoma Autosomal recessive nonsyndromic hearing loss 97 Osteofibrous dysplasia Arthrogryposis, distal, IIa 11 Papillary renal cell carcinoma type 1	Criteria Provided Conflicting Classifications	CA160417	rs_56391007	28 SubmittersRCV000034529 RCV000121340 RCV000123120 RCV000163261 RCV000203290 RCV001507182 RCV002227927 RCV003891465 RCV005394193
NM_000245.4(MET):c.3356G>C (p.Gly1119Ala)	SNV Germline	Chr7:116778791	Conflicting classifications of pathogenicity	Condition: not provided Papillary renal cell carcinoma type 1 Hereditary cancer-predisposing syndrome Renal cell carcinoma Autosomal recessive nonsyndromic hearing loss 97 not specified	Criteria Provided Conflicting Classifications	CA215657	rs_201037977	7 SubmittersRCV000034530 RCV000697527 RCV000569927 RCV001328503 RCV003460544 RCV005055534
NM_000245.4(MET):c.504G>T (p.Glu168Asp)	SNV Germline	Chr7:116699588	Conflicting classifications of pathogenicity	Condition: not provided not specified Papillary renal cell carcinoma type 1 Hereditary cancer-predisposing syndrome Renal cell carcinoma Hepatocellular carcinoma Autosomal recessive nonsyndromic hearing loss 97 Osteofibrous dysplasia Arthrogryposis, distal, IIa 11 Papillary renal cell carcinoma type 1	Criteria Provided Conflicting Classifications	CA147098	rs_55985569	23 SubmittersRCV000034532 RCV000079496 RCV000119201 RCV000129671 RCV001507196 RCV005394194
NM_000245.4(MET):c.607T>A (p.Ser203Thr)	SNV Germline	Chr7:116699691	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome not specified Autosomal recessive nonsyndromic hearing loss 97 Papillary renal cell carcinoma type 1 Renal cell carcinoma Intellectual disability	Criteria Provided Conflicting Classifications	CA188271	rs_200861145	13 SubmittersRCV000034533 RCV000163435 RCV000485340 RCV001333795 RCV005246596 RCV001081506 RCV001252075
NM_000245.4(MET):c.967A>G (p.Ser323Gly)	SNV Germline	Chr7:116700051	Conflicting classifications of pathogenicity	Condition: not provided Papillary renal cell carcinoma type 1 Hereditary cancer-predisposing syndrome Renal cell carcinoma not specified Autosomal recessive nonsyndromic hearing loss 97 Osteofibrous dysplasia Papillary renal cell carcinoma type 1 Hepatocellular carcinoma Arthrogryposis, distal, IIa 11 MET-related disorder	Criteria Provided Conflicting Classifications	CA215665	rs_201467281	13 SubmittersRCV000034535 RCV000123136 RCV000563453 RCV001507142 RCV000599960 RCV005394196 RCV003944878
NM_144997.7(FLCN):c.268G>T (p.Ala90Ser)	SNV Germline	Chr17:17226304	Conflicting classifications of pathogenicity	Condition: not provided not specified Birt-Hogg-Dube syndrome Familial spontaneous pneumothorax Hereditary cancer-predisposing syndrome Birt-Hogg-Dube syndrome 1 17p11.2 microduplication syndrome Nonpapillary renal cell carcinoma Colorectal cancer Birt-Hogg-Dube syndrome 1 Familial spontaneous pneumothorax	Criteria Provided Conflicting Classifications	CA159767	rs_141140415	16 SubmittersRCV000034791 RCV000121101 RCV000227232 RCV000332283 RCV000571977 RCV005246599 RCV005394215
NM_000551.4(VHL):c.208G>A (p.Glu70Lys)	SNV Germline	Chr3:10142055	Pathogenic/Likely pathogenic	Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Chuvash polycythemia Von Hippel-Lindau syndrome Chuvash polycythemia Von Hippel-Lindau syndrome Nonpapillary renal cell carcinoma Pheochromocytoma	Criteria Provided Multiple Submitters No Conflicts	CA020108	rs_5030802	9 SubmittersRCV000036540 RCV000492137 RCV001379599 RCV005394221
NM_000551.4(VHL):c.319C>G (p.Arg107Gly)	SNV Germline	Chr3:10142166	Pathogenic/Likely pathogenic	Von Hippel-Lindau syndrome Nonpapillary renal cell carcinoma Chuvash polycythemia Von Hippel-Lindau syndrome Pheochromocytoma Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA020257	rs_397516440	3 SubmittersRCV000036542 RCV000763091 RCV002321506
NM_000551.4(VHL):c.464-1G>A	SNV Germline	Chr3:10149786	Pathogenic/Likely pathogenic	Von Hippel-Lindau syndrome Condition: not provided Chuvash polycythemia Von Hippel-Lindau syndrome Nonpapillary renal cell carcinoma Chuvash polycythemia Von Hippel-Lindau syndrome Pheochromocytoma Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA020389	rs_5030817	6 SubmittersRCV000036546 RCV000724861 RCV001067480 RCV005031474 RCV004948143
NM_000251.3(MSH2):c.1045C>G (p.Pro349Ala)	SNV Germline/somatic	Chr2:47416398	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Papillary renal cell carcinoma type 1 Condition: not provided Mismatch repair cancer syndrome 1 Muir-Torré syndrome Lynch syndrome 1 not specified Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms Lynch syndrome Hereditary nonpolyposis colon cancer Hereditary breast ovarian cancer syndrome	Criteria Provided Conflicting Classifications	CA016975	rs_267607939	18 SubmittersRCV000128932 RCV000148635 RCV000588936 RCV000764423 RCV001844030 RCV000986664 RCV001085377 RCV005357481 RCV002279934 RCV004760366
NM_000245.4(MET):c.1076G>A (p.Arg359Gln)	SNV Germline	Chr7:116700160	Conflicting classifications of pathogenicity	Condition: not provided Papillary renal cell carcinoma type 1 Hereditary cancer-predisposing syndrome Renal cell carcinoma not specified Hereditary cancer	Criteria Provided Conflicting Classifications	CA221494	rs_201274041	10 SubmittersRCV000079480 RCV000123109 RCV000567262 RCV001312208 RCV002267846 RCV004700392
NM_000245.4(MET):c.147A>G (p.Glu49=)	SNV Germline	Chr7:116699231	Conflicting classifications of pathogenicity	Condition: not provided Renal cell carcinoma Hereditary cancer-predisposing syndrome Papillary renal cell carcinoma type 1	Criteria Provided Conflicting Classifications	CA221497	rs_398123567	4 SubmittersRCV000079485 RCV001415367 RCV002390233 RCV005246636
NM_144997.7(FLCN):c.1533G>A (p.Trp511Ter)	SNV Germline	Chr17:17214990	Pathogenic/Likely pathogenic	Condition: not provided Birt-Hogg-Dube syndrome Hereditary cancer-predisposing syndrome Familial spontaneous pneumothorax Nonpapillary renal cell carcinoma Colorectal cancer 17p11.2 microduplication syndrome Birt-Hogg-Dube syndrome	Criteria Provided Multiple Submitters No Conflicts	CA224159	rs_398124530	7 SubmittersRCV000082630 RCV000239664 RCV002399473 RCV002505009
NM_144997.7(FLCN):c.250-2A>G	SNV Germline	Chr17:17226324	Pathogenic/Likely pathogenic	Condition: not provided Birt-Hogg-Dube syndrome Hereditary cancer-predisposing syndrome FLCN-related disorder Nonpapillary renal cell carcinoma Birt-Hogg-Dube syndrome 1 Familial spontaneous pneumothorax Colorectal cancer	Criteria Provided Multiple Submitters No Conflicts	CA224166	rs_398124533	12 SubmittersRCV000082633 RCV000239670 RCV000492149 RCV003421978 RCV005003458
NM_000245.4(MET):c.1039G>A (p.Ala347Thr)	SNV Germline	Chr7:116700123	Conflicting classifications of pathogenicity	Papillary renal cell carcinoma type 1 not specified Hereditary cancer-predisposing syndrome Condition: not provided Renal cell carcinoma Hereditary cancer Autosomal recessive nonsyndromic hearing loss 97 MET-related disorder	Criteria Provided Conflicting Classifications	CA160433	rs_200074800	14 SubmittersRCV000119117 RCV000121345 RCV000567774 RCV000657129 RCV001420970 RCV003492511 RCV003467064 RCV003894956
NM_144997.7(FLCN):c.134C>G (p.Ala45Gly)	SNV Germline	Chr17:17228004	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Familial spontaneous pneumothorax Carcinoma of colon Nonpapillary renal cell carcinoma 17p11.2 microduplication syndrome Birt-Hogg-Dube syndrome Birt-Hogg-Dube syndrome FLCN-related disorder	Criteria Provided Conflicting Classifications	CA159761	rs_556510460	5 SubmittersRCV000121099 RCV000163762 RCV000765335 RCV000543424 RCV003952599
NM_144997.7(FLCN):c.1283C>T (p.Pro428Leu)	SNV Germline	Chr17:17216397	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Birt-Hogg-Dube syndrome Familial spontaneous pneumothorax Nonpapillary renal cell carcinoma Colorectal cancer 17p11.2 microduplication syndrome Birt-Hogg-Dube syndrome Condition: not provided Birt-Hogg-Dube syndrome 1	Criteria Provided Conflicting Classifications	CA159789	rs_199889477	7 SubmittersRCV000121110 RCV000568600 RCV000635530 RCV002483217 RCV004719701 RCV004786380
NM_144997.7(FLCN):c.1049G>A (p.Arg350Gln)	SNV Germline	Chr17:17219032	Conflicting classifications of pathogenicity	not specified Birt-Hogg-Dube syndrome Hereditary cancer-predisposing syndrome Condition: not provided Familial spontaneous pneumothorax Nonpapillary renal cell carcinoma Colorectal cancer 17p11.2 microduplication syndrome Birt-Hogg-Dube syndrome Birt-Hogg-Dube syndrome 1	Criteria Provided Conflicting Classifications	CA159798	rs_190786280	10 SubmittersRCV000121113 RCV000535074 RCV000573718 RCV001562933 RCV002492423 RCV005246656
NM_000245.4(MET):c.71G>A (p.Gly24Glu)	SNV Germline	Chr7:116699155	Conflicting classifications of pathogenicity	not specified Lymphedema Papillary renal cell carcinoma type 1 Renal cell carcinoma Hereditary cancer-predisposing syndrome Condition: not provided MET-related disorder	Criteria Provided Conflicting Classifications	CA160439	rs_180985111	11 SubmittersRCV000121347 RCV000148614 RCV000167873 RCV001450079 RCV000210818 RCV001560219 RCV003965017
NM_000245.4(MET):c.1771C>T (p.Arg591Trp)	SNV Germline	Chr7:116755424	Conflicting classifications of pathogenicity	not specified Papillary renal cell carcinoma type 1 Hereditary cancer-predisposing syndrome Renal cell carcinoma Condition: not provided MET-related disorder Autosomal recessive nonsyndromic hearing loss 97 Squamous cell lung carcinoma Breast carcinoma	Criteria Provided Conflicting Classifications	CA332158	rs_45602940	11 SubmittersRCV000121353 RCV000206655 RCV000210762 RCV001293429 RCV001562214 RCV003945083 RCV004567048 RCV005429001
NM_000245.4(MET):c.1972G>A (p.Val658Ile)	SNV Germline	Chr7:116757644	Conflicting classifications of pathogenicity	not specified Papillary renal cell carcinoma type 1 Renal cell carcinoma Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA160456	rs_587778446	6 SubmittersRCV000121354 RCV000303828 RCV001312221 RCV001775598 RCV001013805
NM_000551.4(VHL):c.3G>A (p.Met1Ile)	SNV Germline	Chr3:10141850	Conflicting classifications of pathogenicity	not specified Von Hippel-Lindau syndrome Chuvash polycythemia Von Hippel-Lindau syndrome Condition: not provided Hereditary cancer-predisposing syndrome Chuvash polycythemia Nonpapillary renal cell carcinoma Pheochromocytoma Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA020331	rs_578091032	13 SubmittersRCV000122260 RCV000409700 RCV000467198 RCV000657025 RCV000492595 RCV002483231
NM_000551.4(VHL):c.274G>T (p.Asp92Tyr)	SNV Germline	Chr3:10142121	Conflicting classifications of pathogenicity	Von Hippel-Lindau syndrome Chuvash polycythemia Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome Von Hippel-Lindau syndrome Chuvash polycythemia Pheochromocytoma Nonpapillary renal cell carcinoma	Criteria Provided Conflicting Classifications	CA020217	rs_587780731	5 SubmittersRCV000123105 RCV001016495 RCV004786385 RCV005025201
NM_000245.4(MET):c.1412G>A (p.Gly471Glu)	SNV Germline	Chr7:116739969	Conflicting classifications of pathogenicity	Papillary renal cell carcinoma type 1 Hereditary cancer-predisposing syndrome Renal cell carcinoma Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA189064	rs_373312981	9 SubmittersRCV000123113 RCV000163732 RCV001358784 RCV001544764 RCV002267864
NM_000245.4(MET):c.3218C>T (p.Pro1073Leu)	SNV Germline	Chr7:116775070	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Renal cell carcinoma Papillary renal cell carcinoma type 1 not specified Osteofibrous dysplasia Arthrogryposis, distal, IIa 11 Hepatocellular carcinoma Autosomal recessive nonsyndromic hearing loss 97 Papillary renal cell carcinoma type 1 Hereditary cancer	Criteria Provided Conflicting Classifications	CA189948	rs_370529693	11 SubmittersRCV000164064 RCV001534185 RCV001312227 RCV005246658 RCV002228447 RCV005031633 RCV003492548
NM_000245.4(MET):c.4007G>A (p.Arg1336Gln)	SNV Germline	Chr7:116795958	Conflicting classifications of pathogenicity	Papillary renal cell carcinoma type 1 Hereditary cancer-predisposing syndrome Autosomal recessive nonsyndromic hearing loss 97 Renal cell carcinoma Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA332674	rs_369312680	7 SubmittersRCV000123123 RCV001021780 RCV004567065 RCV002228636 RCV003318551 RCV002465526
NM_000245.4(MET):c.467C>T (p.Ser156Leu)	SNV Germline	Chr7:116699551	Conflicting classifications of pathogenicity	Papillary renal cell carcinoma type 1 Hereditary cancer-predisposing syndrome Renal cell carcinoma not specified Condition: not provided Hereditary cancer MET-related disorder	Criteria Provided Conflicting Classifications	CA332680	rs_56311081	8 SubmittersRCV000123126 RCV000572531 RCV001450089 RCV002465527 RCV001557296 RCV003492549 RCV003975093
NM_000245.4(MET):c.689C>T (p.Thr230Met)	SNV Germline	Chr7:116699773	Conflicting classifications of pathogenicity	Papillary renal cell carcinoma type 1 Renal cell carcinoma Hereditary cancer-predisposing syndrome Condition: not provided not specified Autosomal recessive nonsyndromic hearing loss 97	Criteria Provided Conflicting Classifications	CA332692	rs_587780740	6 SubmittersRCV000123131 RCV002228448 RCV002371957 RCV001753507 RCV002465528 RCV003467092
NM_144997.7(FLCN):c.619-20C>T	SNV Germline	Chr17:17222681	Conflicting classifications of pathogenicity	not specified Condition: not provided Birt-Hogg-Dube syndrome Familial spontaneous pneumothorax Nonpapillary renal cell carcinoma Colorectal cancer 17p11.2 microduplication syndrome Birt-Hogg-Dube syndrome Birt-Hogg-Dube syndrome 1 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA290941	rs_202217257	7 SubmittersRCV000253017 RCV001812046 RCV002055543 RCV002505087 RCV005246660 RCV005251075
NM_144997.7(FLCN):c.499C>T (p.Gln167Ter)	SNV Germline	Chr17:17224041	Pathogenic	Hereditary cancer-predisposing syndrome Birt-Hogg-Dube syndrome Condition: not provided Birt-Hogg-Dube syndrome Nonpapillary renal cell carcinoma Familial spontaneous pneumothorax 17p11.2 microduplication syndrome Colorectal cancer Birt-Hogg-Dube syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA166645	rs_587782069	7 SubmittersRCV000130556 RCV000239654 RCV000255173 RCV002498642 RCV005437969
NM_000245.4(MET):c.406G>A (p.Val136Ile)	SNV Germline	Chr7:116699490	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Papillary renal cell carcinoma type 1 Condition: not provided Osteofibrous dysplasia Papillary renal cell carcinoma type 1 Autosomal recessive nonsyndromic hearing loss 97 Hepatocellular carcinoma Breast carcinoma Renal cell carcinoma MET-related disorder not specified Osteofibrous dysplasia Papillary renal cell carcinoma type 1 Autosomal recessive nonsyndromic hearing loss 97 Arthrogryposis, distal, IIa 11 Hepatocellular carcinoma Hereditary cancer	Criteria Provided Conflicting Classifications	CA167281	rs_199701987	15 SubmittersRCV000130870 RCV000199439 RCV000484898 RCV000515234 RCV001262296 RCV001328509 RCV003415953 RCV003320572 RCV005394482 RCV005235038
NM_000245.4(MET):c.901A>G (p.Thr301Ala)	SNV Germline	Chr7:116699985	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Renal cell carcinoma not specified Autosomal recessive nonsyndromic hearing loss 97 Papillary renal cell carcinoma type 1 Hereditary papillary renal cell carcinoma	Criteria Provided Conflicting Classifications	CA189854	rs_201687037	12 SubmittersRCV000153491 RCV000164028 RCV000198491 RCV002267890 RCV001333796 RCV005246672 RCV005600749
NM_000551.4(VHL):c.5C>T (p.Pro2Leu)	SNV Germline	Chr3:10141852	Conflicting classifications of pathogenicity	Condition: not provided Chuvash polycythemia Von Hippel-Lindau syndrome Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome not specified VHL-related disorder Nonpapillary renal cell carcinoma Von Hippel-Lindau syndrome Chuvash polycythemia Nonpapillary renal cell carcinoma Pheochromocytoma Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA020518	rs_111246617	14 SubmittersRCV000161089 RCV000168429 RCV000294881 RCV000492422 RCV000781920 RCV003416030 RCV005359388 RCV005025251
NM_000551.4(VHL):c.482G>A (p.Arg161Gln)	SNV Germline	Chr3:10149805	Pathogenic	Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Condition: not provided Von Hippel-Lindau syndrome Chuvash polycythemia Pheochromocytoma Nonpapillary renal cell carcinoma Von Hippel-Lindau syndrome VHL-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA020413	rs_730882035	11 SubmittersRCV000456958 RCV000563066 RCV000161092 RCV000208848 RCV005394565 RCV004742286
NM_000551.4(VHL):c.209A>G (p.Glu70Gly)	SNV Germline	Chr3:10142056	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Chuvash polycythemia Von Hippel-Lindau syndrome Chuvash polycythemia Condition: not provided Nonpapillary renal cell carcinoma Pheochromocytoma Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA020113	rs_786202857	5 SubmittersRCV000165891 RCV000227354 RCV003462191 RCV001545934 RCV005025264
NM_000551.4(VHL):c.275A>T (p.Asp92Val)	SNV Germline	Chr3:10142122	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome Chuvash polycythemia Von Hippel-Lindau syndrome Condition: not provided Chuvash polycythemia Nonpapillary renal cell carcinoma Pheochromocytoma Von Hippel-Lindau syndrome VHL-related disorder Chuvash polycythemia	Criteria Provided Conflicting Classifications	CA020224	rs_749091984	9 SubmittersRCV000163954 RCV000412307 RCV000525495 RCV000679028 RCV002485013 RCV003389706 RCV003462123
NM_000245.4(MET):c.1081G>T (p.Ala361Ser)	SNV Germline	Chr7:116700165	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Renal cell carcinoma Autosomal recessive nonsyndromic hearing loss 97 Condition: not provided Osteofibrous dysplasia Hepatocellular carcinoma Papillary renal cell carcinoma type 1 Autosomal recessive nonsyndromic hearing loss 97	Criteria Provided Conflicting Classifications	CA192400	rs_786202310	5 SubmittersRCV000165054 RCV001218524 RCV003468731 RCV004777608 RCV002498817
NM_000245.4(MET):c.1669A>G (p.Thr557Ala)	SNV Germline	Chr7:116740993	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Papillary renal cell carcinoma type 1 Hepatocellular carcinoma Papillary renal cell carcinoma type 1 Osteofibrous dysplasia Autosomal recessive nonsyndromic hearing loss 97 Renal cell carcinoma Hepatocellular carcinoma Papillary renal cell carcinoma type 1 Osteofibrous dysplasia Arthrogryposis, distal, IIa 11 Autosomal recessive nonsyndromic hearing loss 97 MET-related disorder Autosomal recessive nonsyndromic hearing loss 97 Condition: not provided	Criteria Provided Conflicting Classifications	CA188720	rs_374733251	11 SubmittersRCV000163595 RCV000167933 RCV000765920 RCV001293448 RCV005031678 RCV003398834 RCV003467280 RCV001812140
NM_000245.4(MET):c.2825C>T (p.Ser942Leu)	SNV Germline	Chr7:116771592	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Autosomal recessive nonsyndromic hearing loss 97 Renal cell carcinoma Osteofibrous dysplasia Arthrogryposis, distal, IIa 11 Hepatocellular carcinoma Papillary renal cell carcinoma type 1 Autosomal recessive nonsyndromic hearing loss 97 Condition: not provided not specified Hereditary cancer	Criteria Provided Conflicting Classifications	CA195544	rs_375576430	7 SubmittersRCV000166311 RCV003462209 RCV001293426 RCV005042337 RCV001589036 RCV004596092 RCV005235073
NM_000245.4(MET):c.3274G>A (p.Val1092Ile)	SNV Germline	Chr7:116777403	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Papillary renal cell carcinoma type 1 Renal cell carcinoma	Criteria Provided Multiple Submitters No Conflicts	CA193972	rs_786202724	4 SubmittersRCV000165679 RCV000709041 RCV001376633
NM_000245.4(MET):c.3798+5T>C	SNV Germline	Chr7:116783474	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Renal cell carcinoma MET-related disorder Papillary renal cell carcinoma type 1	Criteria Provided Conflicting Classifications	CA189312	rs_368150874	8 SubmittersRCV000163837 RCV000826579 RCV000196883 RCV003927541 RCV005246700
NM_144997.7(FLCN):c.1635C>G (p.Asp545Glu)	SNV Germline	Chr17:17213760	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Birt-Hogg-Dube syndrome not specified Birt-Hogg-Dube syndrome 1 Condition: not provided 17p11.2 microduplication syndrome Nonpapillary renal cell carcinoma Colorectal cancer Birt-Hogg-Dube syndrome Familial spontaneous pneumothorax	Criteria Provided Conflicting Classifications	CA188379	rs_760329266	9 SubmittersRCV000163471 RCV000231877 RCV002267903 RCV005246692 RCV001539507 RCV002485010
NM_144997.7(FLCN):c.1283C>A (p.Pro428His)	SNV Germline	Chr17:17216397	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Birt-Hogg-Dube syndrome Condition: not provided Nonpapillary renal cell carcinoma Birt-Hogg-Dube syndrome 17p11.2 microduplication syndrome Familial spontaneous pneumothorax Colorectal cancer Birt-Hogg-Dube syndrome 1	Criteria Provided Conflicting Classifications	CA189480	rs_199889477	7 SubmittersRCV000163906 RCV000529447 RCV001544699 RCV002492651 RCV004567235
NM_144997.7(FLCN):c.139G>C (p.Glu47Gln)	SNV Germline	Chr17:17227999	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Birt-Hogg-Dube syndrome Familial spontaneous pneumothorax Nonpapillary renal cell carcinoma Birt-Hogg-Dube syndrome 17p11.2 microduplication syndrome Colorectal cancer Condition: not provided	Criteria Provided Conflicting Classifications	CA196505	rs_369115472	6 SubmittersRCV000166697 RCV000465657 RCV002492672 RCV002280106
NM_000245.4(MET):c.40C>T (p.Leu14Phe)	SNV Germline	Chr7:116699124	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Renal cell carcinoma Autosomal recessive nonsyndromic hearing loss 97 Condition: not provided Hereditary cancer Papillary renal cell carcinoma type 1 Hepatocellular carcinoma Papillary renal cell carcinoma type 1 MET-related disorder	Criteria Provided Conflicting Classifications	CA334069	rs_763344951	9 SubmittersRCV000561286 RCV001293449 RCV003468821 RCV001564694 RCV004700517 RCV005361045 RCV005246755 RCV004745246
NM_000245.4(MET):c.1132G>A (p.Val378Ile)	SNV Germline	Chr7:116700216	Conflicting classifications of pathogenicity	Papillary renal cell carcinoma type 1 Autosomal recessive nonsyndromic hearing loss 97 Renal cell carcinoma Condition: not provided Hereditary cancer-predisposing syndrome Hereditary papillary renal cell carcinoma Arthrogryposis, distal, IIa 11 Papillary renal cell carcinoma type 1 Hepatocellular carcinoma Autosomal recessive nonsyndromic hearing loss 97 Osteofibrous dysplasia	Criteria Provided Conflicting Classifications	CA334728	rs_749738523	9 SubmittersRCV000168398 RCV003468833 RCV001293437 RCV001562203 RCV001009954 RCV005600798 RCV005396501
NM_000245.4(MET):c.1715G>A (p.Ser572Asn)	SNV Germline	Chr7:116755368	Conflicting classifications of pathogenicity	Papillary renal cell carcinoma type 1 Hereditary cancer-predisposing syndrome not specified Hepatoblastoma Renal cell carcinoma MET-related disorder	Criteria Provided Conflicting Classifications	CA334713	rs_199771406	10 SubmittersRCV000168390 RCV000564000 RCV000610933 RCV001843487 RCV001507175 RCV003927559
NM_000245.4(MET):c.2198C>T (p.Thr733Ile)	SNV Germline	Chr7:116758554	Conflicting classifications of pathogenicity	Renal cell carcinoma Hereditary cancer-predisposing syndrome Condition: not provided MET-related disorder Papillary renal cell carcinoma type 1	Criteria Provided Conflicting Classifications	CA334650	rs_201271860	7 SubmittersRCV000168360 RCV000574096 RCV001823122 RCV003407623 RCV005055084
NM_000245.4(MET):c.2909G>A (p.Arg970His)	SNV Germline	Chr7:116771870	Conflicting classifications of pathogenicity	Papillary renal cell carcinoma type 1 Renal cell carcinoma Hereditary cancer-predisposing syndrome not specified Autosomal recessive nonsyndromic hearing loss 97 Condition: not provided	Criteria Provided Conflicting Classifications	CA334261	rs_45607832	7 SubmittersRCV000168093 RCV001293451 RCV001017689 RCV002267924 RCV003468824 RCV002281988
NM_000458.4(HNF1B):c.226G>T (p.Gly76Cys)	SNV Germline	Chr17:37744659	Conflicting classifications of pathogenicity	not specified Renal cysts and diabetes syndrome Condition: not provided Congenital anomaly of kidney and urinary tract Nonpapillary renal cell carcinoma HNF1B-related disorder	Criteria Provided Conflicting Classifications	CA200314	rs_144425830	14 SubmittersRCV000173138 RCV000369522 RCV000993276 RCV001328309 RCV003316074 RCV003947459
NM_000245.4(MET):c.1932C>T (p.His644=)	SNV Germline	Chr7:116757506	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Renal cell carcinoma Papillary renal cell carcinoma type 1 MET-related disorder	Criteria Provided Conflicting Classifications	CA247119	rs_45520237	6 SubmittersRCV000724818 RCV000561630 RCV001088858 RCV005246757 RCV003955091
NM_000245.4(MET):c.632T>G (p.Leu211Trp)	SNV Germline	Chr7:116699716	Conflicting classifications of pathogenicity	Papillary renal cell carcinoma type 1 Hereditary cancer-predisposing syndrome Renal cell carcinoma Condition: not provided not specified Osteofibrous dysplasia Papillary renal cell carcinoma type 1 Arthrogryposis, distal, IIa 11 Autosomal recessive nonsyndromic hearing loss 97 Hepatocellular carcinoma	Criteria Provided Conflicting Classifications	CA337368	rs_45483396	7 SubmittersRCV000197671 RCV001025145 RCV001450055 RCV001706186 RCV003320598 RCV005396614
NM_000245.4(MET):c.665C>T (p.Thr222Met)	SNV Germline	Chr7:116699749	Conflicting classifications of pathogenicity	Renal cell carcinoma Hereditary cancer-predisposing syndrome Condition: not provided MET-related disorder Papillary renal cell carcinoma type 1 not specified	Criteria Provided Conflicting Classifications	CA338708	rs_200776610	7 SubmittersRCV000199544 RCV000570390 RCV001555971 RCV004745273 RCV005055087 RCV005406938
NM_000245.4(MET):c.1451A>G (p.His484Arg)	SNV Germline	Chr7:116740008	Conflicting classifications of pathogenicity	Papillary renal cell carcinoma type 1 Hereditary cancer-predisposing syndrome Renal cell carcinoma Condition: not provided not specified Autosomal recessive nonsyndromic hearing loss 97 MET-related disorder	Criteria Provided Conflicting Classifications	CA339400	rs_781545528	7 SubmittersRCV000200572 RCV001011655 RCV001293439 RCV003148673 RCV003320597 RCV003468909 RCV004745271
NM_000245.4(MET):c.3236A>G (p.His1079Arg)	SNV Germline	Chr7:116775088	Conflicting classifications of pathogenicity	Renal cell carcinoma Hereditary cancer-predisposing syndrome Condition: not provided not specified Autosomal recessive nonsyndromic hearing loss 97 Papillary renal cell carcinoma type 1	Criteria Provided Conflicting Classifications	CA337203	rs_758292223	10 SubmittersRCV000197429 RCV000574985 RCV001529563 RCV003493488 RCV003474959 RCV005246779
NM_000245.4(MET):c.4075G>A (p.Val1359Ile)	SNV Germline	Chr7:116796026	Conflicting classifications of pathogenicity	Papillary renal cell carcinoma type 1 Hereditary cancer-predisposing syndrome Renal cell carcinoma Autosomal recessive nonsyndromic hearing loss 97 Condition: not provided	Criteria Provided Conflicting Classifications	CA337278	rs_752669237	6 SubmittersRCV000197534 RCV000569392 RCV001358794 RCV004567437 RCV003238734
NM_000551.4(VHL):c.544A>G (p.Arg182Gly)	SNV Germline	Chr3:10149867	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome Condition: not provided Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Chuvash polycythemia Chuvash polycythemia Pheochromocytoma Von Hippel-Lindau syndrome Nonpapillary renal cell carcinoma	Criteria Provided Conflicting Classifications	CA041490	rs_778205243	9 SubmittersRCV000204757 RCV000235376 RCV000663322 RCV001024120 RCV004567477 RCV005031779
NM_000551.4(VHL):c.628C>T (p.Arg210Trp)	SNV Germline	Chr3:10149951	Conflicting classifications of pathogenicity	Von Hippel-Lindau syndrome Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Condition: not provided Maffucci syndrome Chuvash polycythemia not specified Von Hippel-Lindau syndrome Pheochromocytoma Nonpapillary renal cell carcinoma Chuvash polycythemia	Criteria Provided Conflicting Classifications	CA041992	rs_774380450	10 SubmittersRCV000204248 RCV000662950 RCV000568942 RCV001582712 RCV002467673 RCV003468958 RCV005230083 RCV005031778
NM_000245.4(MET):c.1063G>A (p.Glu355Lys)	SNV Germline	Chr7:116700147	Conflicting classifications of pathogenicity	Renal cell carcinoma Hereditary cancer-predisposing syndrome Condition: not provided MET-related disorder Papillary renal cell carcinoma type 1 Autosomal recessive nonsyndromic hearing loss 97 not specified	Criteria Provided Conflicting Classifications	CA349838	rs_561295443	8 SubmittersRCV000205721 RCV000568155 RCV003148678 RCV004745278 RCV005055090 RCV003468933 RCV003493498
NM_000245.4(MET):c.2555T>A (p.Met852Lys)	SNV Germline	Chr7:116763240	Conflicting classifications of pathogenicity	Renal cell carcinoma Condition: not provided Hereditary cancer-predisposing syndrome not specified Osteofibrous dysplasia Hepatocellular carcinoma Papillary renal cell carcinoma type 1 Autosomal recessive nonsyndromic hearing loss 97	Criteria Provided Conflicting Classifications	CA349639	rs_369758288	6 SubmittersRCV000205486 RCV001775668 RCV002433900 RCV003493494 RCV002503800
NM_000245.4(MET):c.4100C>G (p.Ser1367Cys)	SNV Germline	Chr7:116796051	Conflicting classifications of pathogenicity	Papillary renal cell carcinoma type 1 Hereditary cancer-predisposing syndrome Renal cell carcinoma	Criteria Provided Conflicting Classifications	CA350109	rs_747239403	3 SubmittersRCV000206041 RCV000573151 RCV002229176
NM_000245.4(MET):c.4145G>A (p.Arg1382Gln)	SNV Germline	Chr7:116796096	Conflicting classifications of pathogenicity	Renal cell carcinoma Condition: not provided not specified Hereditary cancer-predisposing syndrome Osteofibrous dysplasia Hepatocellular carcinoma Papillary renal cell carcinoma type 1 Autosomal recessive nonsyndromic hearing loss 97 Arthrogryposis, distal, IIa 11	Criteria Provided Conflicting Classifications	CA349710	rs_752694306	6 SubmittersRCV000205567 RCV001775670 RCV002267939 RCV002256115 RCV005396639
NM_000551.4(VHL):c.554A>G (p.Tyr185Cys)	SNV Germline	Chr3:10149877	Conflicting classifications of pathogenicity	Von Hippel-Lindau syndrome Condition: not provided Hereditary cancer-predisposing syndrome Chuvash polycythemia Von Hippel-Lindau syndrome Chuvash polycythemia Pheochromocytoma Nonpapillary renal cell carcinoma Von Hippel-Lindau syndrome VHL-related disorder Chuvash polycythemia Hereditary cancer	Criteria Provided Conflicting Classifications	CA041601	rs_561874453	13 SubmittersRCV000208797 RCV000236099 RCV000565491 RCV000631260 RCV002485365 RCV003422117 RCV003462397 RCV005230091
NM_144997.7(FLCN):c.1709G>A (p.Arg570His)	SNV Germline	Chr17:17213686	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Birt-Hogg-Dube syndrome Condition: not provided Birt-Hogg-Dube syndrome 1 Colorectal cancer Familial spontaneous pneumothorax Nonpapillary renal cell carcinoma	Criteria Provided Conflicting Classifications	CA8415911	rs_201056799	4 SubmittersRCV000213870 RCV000701876 RCV001555199 RCV005003565
NM_144997.7(FLCN):c.1364A>G (p.Glu455Gly)	SNV Germline	Chr17:17215253	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Birt-Hogg-Dube syndrome Colorectal cancer 17p11.2 microduplication syndrome Birt-Hogg-Dube syndrome Familial spontaneous pneumothorax Nonpapillary renal cell carcinoma Condition: not provided Birt-Hogg-Dube syndrome 1	Criteria Provided Conflicting Classifications	CA8416016	rs_199786696	6 SubmittersRCV000223022 RCV000687348 RCV002485418 RCV003128597 RCV004786575
NM_144997.7(FLCN):c.1085G>T (p.Arg362Leu)	SNV Germline	Chr17:17217160	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Birt-Hogg-Dube syndrome Condition: not provided Birt-Hogg-Dube syndrome 1 Ovarian cancer Nonpapillary renal cell carcinoma Familial spontaneous pneumothorax Birt-Hogg-Dube syndrome 1 Colorectal cancer	Criteria Provided Conflicting Classifications	CA8416140	rs_559055296	7 SubmittersRCV000216453 RCV000635561 RCV001753671 RCV004567609 RCV003153506 RCV005016597
NM_144997.7(FLCN):c.779+1G>T	SNV Germline	Chr17:17222500	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Birt-Hogg-Dube syndrome Condition: not provided not specified 17p11.2 microduplication syndrome Carcinoma of colon Birt-Hogg-Dube syndrome Familial spontaneous pneumothorax Nonpapillary renal cell carcinoma	Criteria Provided Multiple Submitters No Conflicts	CA8416321	rs_758175953	12 SubmittersRCV000218992 RCV000239675 RCV000255322 RCV000506237 RCV000762981
NM_000551.4(VHL):c.3G>T (p.Met1Ile)	SNV Germline	Chr3:10141850	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome Condition: not provided Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Chuvash polycythemia Pheochromocytoma Von Hippel-Lindau syndrome Nonpapillary renal cell carcinoma not specified	Criteria Provided Conflicting Classifications	CA040825	rs_578091032	9 SubmittersRCV000228663 RCV000236708 RCV000411808 RCV000562501 RCV002487052 RCV002307459
NM_000551.4(VHL):c.172C>T (p.Arg58Trp)	SNV Germline	Chr3:10142019	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Chuvash polycythemia Pheochromocytoma Von Hippel-Lindau syndrome Nonpapillary renal cell carcinoma Condition: not provided	Criteria Provided Conflicting Classifications	CA039640	rs_757781272	8 SubmittersRCV000230639 RCV000663291 RCV001012878 RCV002500764 RCV003151759
NM_144997.7(FLCN):c.614T>C (p.Leu205Pro)	SNV Germline	Chr17:17223926	Conflicting classifications of pathogenicity	Birt-Hogg-Dube syndrome Hereditary cancer-predisposing syndrome Nonpapillary renal cell carcinoma Birt-Hogg-Dube syndrome 1 Colorectal cancer Familial spontaneous pneumothorax Condition: not provided	Criteria Provided Conflicting Classifications	CA10583456	rs_878855219	4 SubmittersRCV000232477 RCV001024947 RCV005003583 RCV004725120
NM_144997.7(FLCN):c.82C>T (p.Pro28Ser)	SNV Germline	Chr17:17228056	Conflicting classifications of pathogenicity	Birt-Hogg-Dube syndrome Familial spontaneous pneumothorax Hereditary cancer-predisposing syndrome Colorectal cancer 17p11.2 microduplication syndrome Birt-Hogg-Dube syndrome Familial spontaneous pneumothorax Nonpapillary renal cell carcinoma Condition: not provided Birt-Hogg-Dube syndrome 1	Criteria Provided Conflicting Classifications	CA8416522	rs_749758787	7 SubmittersRCV000229497 RCV000380278 RCV001027381 RCV002500821 RCV003151763 RCV005361467
NM_000551.4(VHL):c.463+4C>T	SNV Germline	Chr3:10146640	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Condition: not provided Von Hippel-Lindau syndrome Chuvash polycythemia Nonpapillary renal cell carcinoma Pheochromocytoma Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA10584230	rs_879253989	6 SubmittersRCV000560865 RCV001022813 RCV000679042 RCV003998905 RCV005025396
NM_000245.4(MET):c.1484C>G (p.Thr495Arg)	SNV Germline	Chr7:116740041	Conflicting classifications of pathogenicity	Papillary renal cell carcinoma type 1 Hereditary cancer-predisposing syndrome Renal cell carcinoma Condition: not provided Autosomal recessive nonsyndromic hearing loss 97	Criteria Provided Conflicting Classifications	CA4448168	rs_45585831	5 SubmittersRCV000236379 RCV000568824 RCV001328504 RCV001785527 RCV003463705
NM_000245.4(MET):c.1853C>T (p.Thr618Met)	SNV Germline	Chr7:116755506	Conflicting classifications of pathogenicity	Renal cell carcinoma Hereditary cancer-predisposing syndrome Hepatocellular carcinoma Autosomal recessive nonsyndromic hearing loss 97 Osteofibrous dysplasia Arthrogryposis, distal, IIa 11 Papillary renal cell carcinoma type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA4448284	rs_753407699	5 SubmittersRCV000235673 RCV000573538 RCV005044500 RCV003225052
NM_000245.4(MET):c.3221G>A (p.Ser1074Asn)	SNV Germline	Chr7:116775073	Conflicting classifications of pathogenicity	Renal cell carcinoma Hereditary cancer-predisposing syndrome Papillary renal cell carcinoma type 1 Condition: not provided Autosomal recessive nonsyndromic hearing loss 97	Criteria Provided Conflicting Classifications	CA4448665	rs_752641437	5 SubmittersRCV000236470 RCV000560927 RCV002291612 RCV005621927 RCV004567793
NM_000245.4(MET):c.1336A>G (p.Ile446Val)	SNV Germline	Chr7:116731803	Conflicting classifications of pathogenicity	Renal cell carcinoma Hereditary cancer-predisposing syndrome Condition: not provided Hepatocellular carcinoma Autosomal recessive nonsyndromic hearing loss 97 Osteofibrous dysplasia Papillary renal cell carcinoma type 1	Criteria Provided Conflicting Classifications	CA4448135	rs_779022887	4 SubmittersRCV000239364 RCV000574879 RCV003114412 RCV002487111
NM_144997.7(FLCN):c.1432+1G>A	SNV Germline	Chr17:17215184	Pathogenic/Likely pathogenic	Birt-Hogg-Dube syndrome Hereditary cancer-predisposing syndrome Condition: not provided Familial spontaneous pneumothorax Colorectal cancer Nonpapillary renal cell carcinoma Birt-Hogg-Dube syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA10586251	rs_755959303	7 SubmittersRCV000239711 RCV000492464 RCV000254996 RCV005016650
NM_144997.7(FLCN):c.1429C>T (p.Arg477Ter)	SNV Germline	Chr17:17215188	Pathogenic	Hereditary cancer-predisposing syndrome Birt-Hogg-Dube syndrome Condition: not provided not specified 17p11.2 microduplication syndrome Carcinoma of colon Birt-Hogg-Dube syndrome Familial spontaneous pneumothorax Nonpapillary renal cell carcinoma Colorectal cancer Familial spontaneous pneumothorax Nonpapillary renal cell carcinoma Birt-Hogg-Dube syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA10586252	rs_879255678	11 SubmittersRCV000567617 RCV000239684 RCV000256142 RCV000507127 RCV000762980 RCV005008214
NM_144997.7(FLCN):c.716G>A (p.Arg239His)	SNV Germline	Chr17:17222564	Conflicting classifications of pathogenicity	Birt-Hogg-Dube syndrome Hereditary cancer-predisposing syndrome Familial spontaneous pneumothorax Colorectal cancer Nonpapillary renal cell carcinoma Birt-Hogg-Dube syndrome 1 Condition: not provided Birt-Hogg-Dube syndrome 1	Criteria Provided Conflicting Classifications	CA8416333	rs_753948488	6 SubmittersRCV000239701 RCV000561577 RCV005003593 RCV001527887 RCV005246920
NM_144997.7(FLCN):c.1062+2T>G	SNV Germline	Chr17:17219017	Pathogenic	Condition: not provided Birt-Hogg-Dube syndrome Hereditary cancer-predisposing syndrome 17p11.2 microduplication syndrome Colorectal cancer Birt-Hogg-Dube syndrome Familial spontaneous pneumothorax Nonpapillary renal cell carcinoma Hypoparathyroidism	Criteria Provided Multiple Submitters No Conflicts	CA10588640	rs_886039370	7 SubmittersRCV000254745 RCV000812531 RCV001009818 RCV002479990 RCV005625490
NM_000458.4(HNF1B):c.1025C>T (p.Ser342Phe)	SNV Germline	Chr17:37731615	Conflicting classifications of pathogenicity	Condition: not provided not specified Maturity onset diabetes mellitus in young Renal cysts and diabetes syndrome Nonpapillary renal cell carcinoma Type 2 diabetes mellitus Renal cysts and diabetes syndrome	Criteria Provided Conflicting Classifications	CA8518947	rs_780035561	6 SubmittersRCV000386201 RCV001820823 RCV002465609 RCV005396888 RCV001125734
NM_000458.4(HNF1B):c.884G>A (p.Arg295His)	SNV Germline	Chr17:37731756	Conflicting classifications of pathogenicity	Condition: not provided Renal cysts and diabetes syndrome Type 2 diabetes mellitus Nonpapillary renal cell carcinoma Renal cysts and diabetes syndrome	Criteria Provided Conflicting Classifications	CA10605981	rs_886043813	8 SubmittersRCV000713806 RCV000787122 RCV001535983
NM_000245.4(MET):c.1320A>G (p.Thr440=)	SNV Germline	Chr7:116731787	Conflicting classifications of pathogenicity	Papillary renal cell carcinoma type 1 Hereditary cancer-predisposing syndrome Renal cell carcinoma	Criteria Provided Conflicting Classifications	CA4448132	rs_763726060	4 SubmittersRCV000393162 RCV002379246 RCV001519329
NM_000245.4(MET):c.1965+11T>G	SNV Germline	Chr7:116757550	Conflicting classifications of pathogenicity	Papillary renal cell carcinoma type 1 Renal cell carcinoma	Criteria Provided Conflicting Classifications	CA10623054	rs_780230492	2 SubmittersRCV000366689 RCV003761942
NM_000245.4(MET):c.1693A>G (p.Ile565Val)	SNV Germline	Chr7:116741017	Conflicting classifications of pathogenicity	Papillary renal cell carcinoma type 1 Hereditary cancer-predisposing syndrome Renal cell carcinoma	Criteria Provided Conflicting Classifications	CA4448221	rs_745479104	3 SubmittersRCV000313310 RCV002411253 RCV001328510
NM_000245.4(MET):c.4074C>T (p.Asn1358=)	SNV Germline	Chr7:116796025	Conflicting classifications of pathogenicity	Papillary renal cell carcinoma type 1 Condition: not provided Renal cell carcinoma Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA4448823	rs_772860611	5 SubmittersRCV000288231 RCV000840849 RCV001420985 RCV002328874
NM_000245.4(MET):c.1174C>A (p.Pro392Thr)	SNV Germline	Chr7:116700258	Conflicting classifications of pathogenicity	Papillary renal cell carcinoma type 1 Hereditary cancer-predisposing syndrome Osteofibrous dysplasia Papillary renal cell carcinoma type 1 Autosomal recessive nonsyndromic hearing loss 97 Hepatocellular carcinoma Renal cell carcinoma Autosomal recessive nonsyndromic hearing loss 97 not specified	Criteria Provided Conflicting Classifications	CA10628009	rs_886061943	6 SubmittersRCV000335138 RCV000570504 RCV000765918 RCV001312205 RCV003470320 RCV003320637
NM_000245.4(MET):c.1011G>A (p.Leu337=)	SNV Germline	Chr7:116700095	Conflicting classifications of pathogenicity	Papillary renal cell carcinoma type 1 Renal cell carcinoma not specified	Criteria Provided Conflicting Classifications	CA10628122	rs_886061942	4 SubmittersRCV000327973 RCV001485226 RCV004596169
NM_144997.7(FLCN):c.1430G>A (p.Arg477Gln)	SNV Germline	Chr17:17215187	Conflicting classifications of pathogenicity	Birt-Hogg-Dube syndrome Condition: not provided Spontaneous pneumothorax Birt-Hogg-Dube syndrome Familial spontaneous pneumothorax 17p11.2 microduplication syndrome Carcinoma of colon Nonpapillary renal cell carcinoma Hereditary cancer-predisposing syndrome Birt-Hogg-Dube syndrome 1	Criteria Provided Conflicting Classifications	CA8416005	rs_748878853	9 SubmittersRCV000266163 RCV000414396 RCV000379332 RCV000765332 RCV001011546 RCV005246927
NM_144997.7(FLCN):c.-487G>C	SNV Germline	Chr17:17237171	Conflicting classifications of pathogenicity	Familial spontaneous pneumothorax Birt-Hogg-Dube syndrome Condition: not provided Familial spontaneous pneumothorax Nonpapillary renal cell carcinoma Colorectal cancer Birt-Hogg-Dube syndrome 1 FLCN-related disorder	Criteria Provided Conflicting Classifications	CA10644979	rs_1736209	5 SubmittersRCV000301565 RCV000359232 RCV001712042 RCV005365247 RCV004745341
NM_144997.7(FLCN):c.-299C>T	SNV Germline	Chr17:17236983	Conflicting classifications of pathogenicity	Birt-Hogg-Dube syndrome Familial spontaneous pneumothorax Colorectal cancer Nonpapillary renal cell carcinoma Birt-Hogg-Dube syndrome 1 Familial spontaneous pneumothorax Condition: not provided FLCN-related disorder	Criteria Provided Conflicting Classifications	CA10648714	rs_1708629	5 SubmittersRCV000296363 RCV000408011 RCV005355642 RCV001683291 RCV004745340
NM_000458.4(HNF1B):c.541C>T (p.Arg181Ter)	SNV Germline	Chr17:37739443	Pathogenic	Condition: not provided Renal cysts and diabetes syndrome See cases Maturity onset diabetes mellitus in young Type 2 diabetes mellitus Renal cysts and diabetes syndrome Nonpapillary renal cell carcinoma	Criteria Provided Multiple Submitters No Conflicts	CA16043028	rs_1057517744	11 SubmittersRCV000413356 RCV000787179 RCV004797807 RCV002348127 RCV005010306
NM_000551.4(VHL):c.28G>A (p.Glu10Lys)	SNV Germline	Chr3:10141875	Conflicting classifications of pathogenicity	Von Hippel-Lindau syndrome Von Hippel-Lindau syndrome Chuvash polycythemia Hereditary cancer-predisposing syndrome Condition: not provided Chuvash polycythemia Pheochromocytoma Von Hippel-Lindau syndrome Nonpapillary renal cell carcinoma Chuvash polycythemia	Criteria Provided Conflicting Classifications	CA16043991	rs_1057519261	9 SubmittersRCV000415643 RCV000476548 RCV001016912 RCV001584111 RCV003463824 RCV002488864
NM_000551.4(VHL):c.1A>T (p.Met1Leu)	SNV Germline	Chr3:10141848	Conflicting classifications of pathogenicity	Von Hippel-Lindau syndrome Chuvash polycythemia Condition: not provided Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome Chuvash polycythemia Nonpapillary renal cell carcinoma Pheochromocytoma	Criteria Provided Conflicting Classifications	CA16611052	rs_1060503557	6 SubmittersRCV000458939 RCV000579235 RCV000663055 RCV002418424 RCV005027533
NM_000551.4(VHL):c.235C>G (p.Arg79Gly)	SNV Germline	Chr3:10142082	Conflicting classifications of pathogenicity	Von Hippel-Lindau syndrome Chuvash polycythemia Pheochromocytoma Von Hippel-Lindau syndrome Chuvash polycythemia Nonpapillary renal cell carcinoma Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA16611065	rs_200885420	4 SubmittersRCV000475786 RCV002475891 RCV004022892 RCV004722797
NM_000551.4(VHL):c.429C>T (p.Asp143=)	SNV Germline	Chr3:10146602	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome not specified Von Hippel-Lindau syndrome Condition: not provided Pheochromocytoma Nonpapillary renal cell carcinoma Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA040956	rs_773556807	6 SubmittersRCV000470382 RCV000564320 RCV000613763 RCV004002229 RCV002056727 RCV005027539
NM_000551.4(VHL):c.620C>T (p.Ala207Val)	SNV Germline	Chr3:10149943	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Chuvash polycythemia Pheochromocytoma Nonpapillary renal cell carcinoma Von Hippel-Lindau syndrome Condition: not provided Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA16611076	rs_1060503549	5 SubmittersRCV000461637 RCV002365666 RCV005027532 RCV003317228 RCV004802021
NM_000551.4(VHL):c.323G>A (p.Arg108His)	SNV Germline	Chr3:10142170	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Condition: not provided Von Hippel-Lindau syndrome Chuvash polycythemia Pheochromocytoma Nonpapillary renal cell carcinoma Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA040275	rs_367594943	6 SubmittersRCV000458083 RCV001019385 RCV002269278 RCV004001987 RCV002489087
NM_000551.4(VHL):c.373C>T (p.His125Tyr)	SNV Germline	Chr3:10146546	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome Condition: not provided Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome Pheochromocytoma Nonpapillary renal cell carcinoma Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA040676	rs_375401722	8 SubmittersRCV000462284 RCV000479517 RCV000708764 RCV002272247 RCV002489086
NM_000551.4(VHL):c.548C>T (p.Ser183Leu)	SNV Germline	Chr3:10149871	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome Chuvash polycythemia Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome Condition: not provided Pheochromocytoma Nonpapillary renal cell carcinoma Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA041537	rs_5030823	9 SubmittersRCV000476376 RCV001007624 RCV002349982 RCV004001991 RCV003237874 RCV005027537
NM_000551.4(VHL):c.21C>A (p.Asn7Lys)	SNV Germline	Chr3:10141868	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Condition: not provided Chuvash polycythemia Pheochromocytoma Nonpapillary renal cell carcinoma Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA16611156	rs_1060503561	5 SubmittersRCV000462197 RCV000574549 RCV001356021 RCV005027534
NM_000551.4(VHL):c.613C>T (p.Arg205Cys)	SNV Germline	Chr3:10149936	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome Condition: not provided Chuvash polycythemia Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome Chuvash polycythemia Pheochromocytoma Nonpapillary renal cell carcinoma Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA041940	rs_199926195	7 SubmittersRCV000471333 RCV000481600 RCV004568086 RCV002356704 RCV004787738 RCV005027535
NM_000245.4(MET):c.37G>A (p.Val13Met)	SNV Germline	Chr7:116699121	Conflicting classifications of pathogenicity	Renal cell carcinoma Hereditary cancer-predisposing syndrome Condition: not provided Papillary renal cell carcinoma type 1	Criteria Provided Conflicting Classifications	CA4447934	rs_781777052	4 SubmittersRCV000476283 RCV000572036 RCV001591102 RCV005055117
NM_000245.4(MET):c.2755G>A (p.Val919Ile)	SNV Germline	Chr7:116771522	Conflicting classifications of pathogenicity	Renal cell carcinoma Hereditary cancer-predisposing syndrome Condition: not provided not specified Papillary renal cell carcinoma type 1 Autosomal recessive nonsyndromic hearing loss 97	Criteria Provided Conflicting Classifications	CA4448584	rs_759522148	6 SubmittersRCV000459574 RCV000574997 RCV001584167 RCV003493586 RCV003153641 RCV003470496
NM_000245.4(MET):c.2971C>T (p.Pro991Ser)	SNV Germline	Chr7:116771932	Conflicting classifications of pathogenicity	Papillary renal cell carcinoma type 1 Condition: not provided Osteofibrous dysplasia Hereditary cancer-predisposing syndrome Renal cell carcinoma	Criteria Provided Conflicting Classifications	CA4448619	rs_768678989	5 SubmittersRCV000476062 RCV001755706 RCV001788226 RCV001018130 RCV001312218
NM_000245.4(MET):c.3864C>T (p.Asn1288=)	SNV Germline	Chr7:116795720	Conflicting classifications of pathogenicity	Renal cell carcinoma Condition: not provided Hereditary cancer-predisposing syndrome Papillary renal cell carcinoma type 1 MET-related disorder	Criteria Provided Conflicting Classifications	CA4448792	rs_768627036	6 SubmittersRCV000461403 RCV002051857 RCV002257756 RCV005248042 RCV003401505
NM_000245.4(MET):c.143C>G (p.Ala48Gly)	SNV Germline	Chr7:116699227	Conflicting classifications of pathogenicity	Renal cell carcinoma Hepatocellular carcinoma Autosomal recessive nonsyndromic hearing loss 97 Osteofibrous dysplasia Papillary renal cell carcinoma type 1 Hereditary cancer-predisposing syndrome Autosomal recessive nonsyndromic hearing loss 97	Criteria Provided Conflicting Classifications	CA4447947	rs_80256822	4 SubmittersRCV000458343 RCV000765914 RCV002393162 RCV003463962
NM_000245.4(MET):c.4150G>A (p.Ala1384Thr)	SNV Germline	Chr7:116796101	Conflicting classifications of pathogenicity	Renal cell carcinoma Hereditary cancer-predisposing syndrome Condition: not provided Hepatocellular carcinoma Autosomal recessive nonsyndromic hearing loss 97 Osteofibrous dysplasia Papillary renal cell carcinoma type 1 Arthrogryposis, distal, IIa 11 Autosomal recessive nonsyndromic hearing loss 97	Criteria Provided Conflicting Classifications	CA4448838	rs_758486336	6 SubmittersRCV000472109 RCV001022049 RCV003223643 RCV005034001 RCV003463961
NM_144997.7(FLCN):c.1022G>A (p.Arg341Gln)	SNV Germline	Chr17:17219059	Conflicting classifications of pathogenicity	Birt-Hogg-Dube syndrome Hereditary cancer-predisposing syndrome Condition: not provided Birt-Hogg-Dube syndrome 1 Colorectal cancer Familial spontaneous pneumothorax Birt-Hogg-Dube syndrome 1 Nonpapillary renal cell carcinoma	Criteria Provided Conflicting Classifications	CA8416172	rs_375352888	9 SubmittersRCV000475669 RCV001017036 RCV001528486 RCV004568037 RCV005018784
NM_144997.7(FLCN):c.257G>A (p.Arg86Gln)	SNV Germline	Chr17:17226315	Conflicting classifications of pathogenicity	Birt-Hogg-Dube syndrome Condition: not provided Hereditary cancer-predisposing syndrome Colorectal cancer Familial spontaneous pneumothorax Birt-Hogg-Dube syndrome 1 Nonpapillary renal cell carcinoma	Criteria Provided Conflicting Classifications	CA8416463	rs_765550303	6 SubmittersRCV000468705 RCV002282153 RCV001016003 RCV005010361
NM_144997.7(FLCN):c.748C>A (p.Leu250Met)	SNV Germline	Chr17:17222532	Conflicting classifications of pathogenicity	Birt-Hogg-Dube syndrome Hereditary cancer-predisposing syndrome Nonpapillary renal cell carcinoma 17p11.2 microduplication syndrome Birt-Hogg-Dube syndrome Colorectal cancer Familial spontaneous pneumothorax Condition: not provided	Criteria Provided Conflicting Classifications	CA16615122	rs_898441209	5 SubmittersRCV000462755 RCV000492271 RCV002481438 RCV002480409
NM_144997.7(FLCN):c.249+2C>T	SNV Germline	Chr17:17227887	Conflicting classifications of pathogenicity	Birt-Hogg-Dube syndrome Nonpapillary renal cell carcinoma 17p11.2 microduplication syndrome Birt-Hogg-Dube syndrome Colorectal cancer Familial spontaneous pneumothorax Hereditary cancer-predisposing syndrome Birt-Hogg-Dube syndrome 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA16615123	rs_939223011	6 SubmittersRCV000456150 RCV002489055 RCV003298490 RCV004022725 RCV003477973
NM_144997.7(FLCN):c.113G>T (p.Ser38Ile)	SNV Germline	Chr17:17228025	Conflicting classifications of pathogenicity	Birt-Hogg-Dube syndrome Hereditary cancer-predisposing syndrome Condition: not provided FLCN-related disorder not specified Birt-Hogg-Dube syndrome 1 Nonpapillary renal cell carcinoma 17p11.2 microduplication syndrome Birt-Hogg-Dube syndrome Colorectal cancer Familial spontaneous pneumothorax	Criteria Provided Conflicting Classifications	CA8416514	rs_139418842	8 SubmittersRCV000469363 RCV001017432 RCV001558005 RCV003409629 RCV001844165 RCV004787729 RCV002489056
NM_144997.7(FLCN):c.535C>T (p.Arg179Trp)	SNV Germline	Chr17:17224005	Conflicting classifications of pathogenicity	Birt-Hogg-Dube syndrome Hereditary cancer-predisposing syndrome 17p11.2 microduplication syndrome Condition: not provided Familial spontaneous pneumothorax 17p11.2 microduplication syndrome Nonpapillary renal cell carcinoma Birt-Hogg-Dube syndrome Colorectal cancer not specified Birt-Hogg-Dube syndrome 1	Criteria Provided Conflicting Classifications	CA8416388	rs_774358971	9 SubmittersRCV000467918 RCV001023971 RCV001198849 RCV001568283 RCV002480410 RCV003321612 RCV005247044
NM_000551.4(VHL):c.221T>C (p.Val74Ala)	SNV Germline	Chr3:10142068	Conflicting classifications of pathogenicity	Condition: not provided Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Pheochromocytoma Nonpapillary renal cell carcinoma Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA16617786	rs_5030803	4 SubmittersRCV000484327 RCV000698497 RCV005298500 RCV002475938
NM_000551.4(VHL):c.614G>A (p.Arg205His)	SNV Germline	Chr3:10149937	Conflicting classifications of pathogenicity	Condition: not provided Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Pheochromocytoma Nonpapillary renal cell carcinoma Chuvash polycythemia Von Hippel-Lindau syndrome Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA041951	rs_777130107	8 SubmittersRCV000481472 RCV000631259 RCV001024946 RCV000764460 RCV004787783
NM_000551.4(VHL):c.581T>G (p.Val194Gly)	SNV Germline	Chr3:10149904	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome Chuvash polycythemia Von Hippel-Lindau syndrome Pheochromocytoma Von Hippel-Lindau syndrome Chuvash polycythemia Nonpapillary renal cell carcinoma	Criteria Provided Conflicting Classifications	CA351756475	rs_1131690963	4 SubmittersRCV000492180 RCV000547627 RCV005056071 RCV005398712
NM_144997.7(FLCN):c.1657T>C (p.Trp553Arg)	SNV Germline	Chr17:17213738	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Birt-Hogg-Dube syndrome Condition: not provided Birt-Hogg-Dube syndrome Familial spontaneous pneumothorax Colorectal cancer 17p11.2 microduplication syndrome Nonpapillary renal cell carcinoma	Criteria Provided Multiple Submitters No Conflicts	CA398529920	rs_1131690833	4 SubmittersRCV000492176 RCV000690635 RCV001584204 RCV002496889
NM_000551.4(VHL):c.31G>C (p.Ala11Pro)	SNV Germline	Chr3:10141878	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome Pheochromocytoma Nonpapillary renal cell carcinoma Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA351747101	rs_1236604706	4 SubmittersRCV000554589 RCV000764457 RCV001019152 RCV004791523
NM_000551.4(VHL):c.312C>T (p.Gly104=)	SNV Germline	Chr3:10142159	Conflicting classifications of pathogenicity	Von Hippel-Lindau syndrome Chuvash polycythemia Condition: not provided Hereditary cancer-predisposing syndrome VHL-related disorder Von Hippel-Lindau syndrome Nonpapillary renal cell carcinoma Chuvash polycythemia Pheochromocytoma Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA70046276	rs_946898891	6 SubmittersRCV000539418 RCV001545850 RCV001018749 RCV003392366 RCV005034085 RCV005620961
NM_000245.4(MET):c.142G>A (p.Ala48Thr)	SNV Germline	Chr7:116699226	Conflicting classifications of pathogenicity	Renal cell carcinoma Hereditary cancer-predisposing syndrome Osteofibrous dysplasia Hepatocellular carcinoma Papillary renal cell carcinoma type 1 Autosomal recessive nonsyndromic hearing loss 97 Condition: not provided Autosomal recessive nonsyndromic hearing loss 97 MET-related disorder Papillary renal cell carcinoma type 1	Criteria Provided Conflicting Classifications	CA4447946	rs_374050750	8 SubmittersRCV000532694 RCV000569043 RCV000764682 RCV001547448 RCV003470697 RCV004745439 RCV005248095
NM_000245.4(MET):c.341A>T (p.Asp114Val)	SNV Germline	Chr7:116699425	Conflicting classifications of pathogenicity	Papillary renal cell carcinoma type 1 Renal cell carcinoma Hereditary cancer-predisposing syndrome Condition: not provided MET-related disorder Autosomal recessive nonsyndromic hearing loss 97	Criteria Provided Conflicting Classifications	CA4447978	rs_773659883	6 SubmittersRCV000540846 RCV001293431 RCV002456035 RCV003151783 RCV003409759 RCV003459165
NM_000245.4(MET):c.1988C>T (p.Ser663Leu)	SNV Germline	Chr7:116757660	Conflicting classifications of pathogenicity	Papillary renal cell carcinoma type 1 Condition: not provided Hereditary cancer-predisposing syndrome Renal cell carcinoma Ovarian cancer Autosomal recessive nonsyndromic hearing loss 97 not specified	Criteria Provided Conflicting Classifications	CA4448351	rs_376459715	10 SubmittersRCV000532305 RCV000592240 RCV001013919 RCV001328521 RCV003153672 RCV003459163 RCV005434994
NM_000245.4(MET):c.2684C>T (p.Thr895Met)	SNV Germline	Chr7:116769745	Conflicting classifications of pathogenicity	Renal cell carcinoma Hereditary cancer-predisposing syndrome Condition: not provided Osteofibrous dysplasia Hepatocellular carcinoma Papillary renal cell carcinoma type 1 Autosomal recessive nonsyndromic hearing loss 97 MET-related disorder Papillary renal cell carcinoma type 1	Criteria Provided Conflicting Classifications	CA4448549	rs_199502137	7 SubmittersRCV000541456 RCV001016448 RCV001591188 RCV002476079 RCV003392361 RCV003444568
NM_000245.4(MET):c.1101C>A (p.Ile367=)	SNV Germline	Chr7:116700185	Conflicting classifications of pathogenicity	Renal cell carcinoma Hereditary cancer-predisposing syndrome Condition: not provided Papillary renal cell carcinoma type 1	Criteria Provided Conflicting Classifications	CA4448070	rs_747940150	4 SubmittersRCV000528861 RCV000561781 RCV004772952 RCV005248092
NM_000245.4(MET):c.1238G>A (p.Arg413His)	SNV Germline	Chr7:116731705	Conflicting classifications of pathogenicity	Papillary renal cell carcinoma type 1 Hereditary cancer-predisposing syndrome Renal cell carcinoma Condition: not provided	Criteria Provided Conflicting Classifications	CA4448120	rs_375391602	4 SubmittersRCV000527361 RCV000570024 RCV001312224 RCV001576084
NM_000245.4(MET):c.2103-4T>C	SNV Germline	Chr7:116758455	Conflicting classifications of pathogenicity	Renal cell carcinoma Hereditary cancer-predisposing syndrome Condition: not provided MET-related disorder Papillary renal cell carcinoma type 1	Criteria Provided Conflicting Classifications	CA4448410	rs_753740913	6 SubmittersRCV000547032 RCV000562566 RCV001591187 RCV004745440 RCV005248098
NM_000245.4(MET):c.3352A>G (p.Ile1118Val)	SNV Germline	Chr7:116778787	Conflicting classifications of pathogenicity	Papillary renal cell carcinoma type 1 Hereditary cancer-predisposing syndrome Renal cell carcinoma Condition: not provided Autosomal recessive nonsyndromic hearing loss 97	Criteria Provided Conflicting Classifications	CA4448713	rs_755234697	6 SubmittersRCV000526482 RCV000570458 RCV001293430 RCV001775839 RCV003470699
NM_144997.7(FLCN):c.1432+8C>T	SNV Germline	Chr17:17215177	Conflicting classifications of pathogenicity	Birt-Hogg-Dube syndrome Birt-Hogg-Dube syndrome Colorectal cancer Nonpapillary renal cell carcinoma 17p11.2 microduplication syndrome Familial spontaneous pneumothorax Condition: not provided Birt-Hogg-Dube syndrome 1	Criteria Provided Conflicting Classifications	CA8416000	rs_201898226	4 SubmittersRCV000535879 RCV002506320 RCV003478136 RCV005248194
NM_144997.7(FLCN):c.604G>A (p.Gly202Ser)	SNV Germline	Chr17:17223936	Conflicting classifications of pathogenicity	Birt-Hogg-Dube syndrome Hereditary cancer-predisposing syndrome Birt-Hogg-Dube syndrome Colorectal cancer Nonpapillary renal cell carcinoma 17p11.2 microduplication syndrome Familial spontaneous pneumothorax Birt-Hogg-Dube syndrome 1	Criteria Provided Conflicting Classifications	CA8416374	rs_774491699	4 SubmittersRCV000545339 RCV000565519 RCV002476128 RCV004568773
NM_144997.7(FLCN):c.1580G>A (p.Arg527Gln)	SNV Germline	Chr17:17213815	Conflicting classifications of pathogenicity	Birt-Hogg-Dube syndrome Hereditary cancer-predisposing syndrome Familial spontaneous pneumothorax Condition: not provided Birt-Hogg-Dube syndrome 1 Colorectal cancer Nonpapillary renal cell carcinoma Familial spontaneous pneumothorax Birt-Hogg-Dube syndrome 1	Criteria Provided Conflicting Classifications	CA8415934	rs_777826268	8 SubmittersRCV000560552 RCV000565191 RCV001121961 RCV002527743 RCV004787856 RCV005010495
NM_144997.7(FLCN):c.1373A>G (p.Gln458Arg)	SNV Germline	Chr17:17215244	Conflicting classifications of pathogenicity	Birt-Hogg-Dube syndrome Hereditary cancer-predisposing syndrome Condition: not provided Colorectal cancer Nonpapillary renal cell carcinoma Familial spontaneous pneumothorax Birt-Hogg-Dube syndrome 1	Criteria Provided Conflicting Classifications	CA8416015	rs_150439088	6 SubmittersRCV000558097 RCV001011243 RCV001775852 RCV005004223
NM_144997.7(FLCN):c.1193G>C (p.Gly398Ala)	SNV Germline	Chr17:17216487	Conflicting classifications of pathogenicity	Birt-Hogg-Dube syndrome Hereditary cancer-predisposing syndrome Birt-Hogg-Dube syndrome 1 Colorectal cancer Nonpapillary renal cell carcinoma Familial spontaneous pneumothorax Birt-Hogg-Dube syndrome 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA8416100	rs_766801011	6 SubmittersRCV000530248 RCV002350218 RCV004787855 RCV005004222 RCV005000150
NM_144997.7(FLCN):c.1160C>T (p.Ala387Val)	SNV Germline	Chr17:17217085	Conflicting classifications of pathogenicity	Birt-Hogg-Dube syndrome Hereditary cancer-predisposing syndrome Colorectal cancer Nonpapillary renal cell carcinoma Familial spontaneous pneumothorax Birt-Hogg-Dube syndrome 1	Criteria Provided Conflicting Classifications	CA398532150	rs_1431737113	4 SubmittersRCV000541483 RCV001010029 RCV005010494
NM_144997.7(FLCN):c.498C>G (p.Phe166Leu)	SNV Germline	Chr17:17224042	Conflicting classifications of pathogenicity	Birt-Hogg-Dube syndrome Hereditary cancer-predisposing syndrome Condition: not provided Birt-Hogg-Dube syndrome Colorectal cancer Nonpapillary renal cell carcinoma 17p11.2 microduplication syndrome Familial spontaneous pneumothorax	Criteria Provided Conflicting Classifications	CA288317129	rs_1040675580	5 SubmittersRCV000553117 RCV001023371 RCV001574889 RCV002483392
NM_144997.7(FLCN):c.1133G>A (p.Ser378Asn)	SNV Germline	Chr17:17217112	Conflicting classifications of pathogenicity	Birt-Hogg-Dube syndrome Hereditary cancer-predisposing syndrome Condition: not provided Ovarian cancer Birt-Hogg-Dube syndrome 1 Colorectal cancer Nonpapillary renal cell carcinoma Familial spontaneous pneumothorax Birt-Hogg-Dube syndrome 1	Criteria Provided Conflicting Classifications	CA8416136	rs_769489773	7 SubmittersRCV000542554 RCV000568232 RCV002293449 RCV003153696 RCV004787854 RCV005018920
NM_144997.7(FLCN):c.634C>A (p.Gln212Lys)	SNV Germline	Chr17:17222646	Conflicting classifications of pathogenicity	Birt-Hogg-Dube syndrome Hereditary cancer-predisposing syndrome Birt-Hogg-Dube syndrome Colorectal cancer Nonpapillary renal cell carcinoma 17p11.2 microduplication syndrome Familial spontaneous pneumothorax Condition: not provided Birt-Hogg-Dube syndrome 1	Criteria Provided Conflicting Classifications	CA8416347	rs_558699420	7 SubmittersRCV000527374 RCV001025165 RCV002490994 RCV003126810 RCV004787857
NM_144997.7(FLCN):c.451G>A (p.Val151Met)	SNV Germline	Chr17:17224089	Conflicting classifications of pathogenicity	Birt-Hogg-Dube syndrome Condition: not provided Nonpapillary renal cell carcinoma Carcinoma of colon 17p11.2 microduplication syndrome Birt-Hogg-Dube syndrome Familial spontaneous pneumothorax Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA8416395	rs_147164515	7 SubmittersRCV000532463 RCV000658774 RCV000765334 RCV001022629
NM_144997.7(FLCN):c.396+6C>T	SNV Germline	Chr17:17226170	Conflicting classifications of pathogenicity	Birt-Hogg-Dube syndrome Birt-Hogg-Dube syndrome Colorectal cancer Nonpapillary renal cell carcinoma 17p11.2 microduplication syndrome Familial spontaneous pneumothorax Birt-Hogg-Dube syndrome 1	Criteria Provided Conflicting Classifications	CA8416444	rs_747922795	3 SubmittersRCV000538911 RCV002483391 RCV004023834
NM_000551.4(VHL):c.508G>A (p.Val170Ile)	SNV Germline	Chr3:10149831	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome Chuvash polycythemia Von Hippel-Lindau syndrome Nonpapillary renal cell carcinoma Chuvash polycythemia Pheochromocytoma Chuvash polycythemia Condition: not provided	Criteria Provided Conflicting Classifications	CA351756194	rs_1553620326	7 SubmittersRCV000569840 RCV001210329 RCV002483543 RCV004568224 RCV003322793
NM_000245.4(MET):c.1099A>G (p.Ile367Val)	SNV Germline	Chr7:116700183	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Renal cell carcinoma Condition: not provided Papillary renal cell carcinoma type 1	Criteria Provided Conflicting Classifications	CA4448069	rs_774146015	6 SubmittersRCV000574339 RCV000628727 RCV002509445 RCV001788290
NM_000245.4(MET):c.1125C>G (p.Asn375Lys)	SNV Germline	Chr7:116700209	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Papillary renal cell carcinoma type 1 Renal cell carcinoma Condition: not provided	Criteria Provided Conflicting Classifications	CA4448074	rs_776693512	4 SubmittersRCV000564467 RCV000709031 RCV001293434 RCV003317290
NM_000245.4(MET):c.2887+5A>T	SNV Germline	Chr7:116771659	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Papillary renal cell carcinoma type 1 Renal cell carcinoma not specified	Criteria Provided Conflicting Classifications	CA4448594	rs_752292538	4 SubmittersRCV000569128 RCV000987954 RCV001320954 RCV004596283
NM_000245.4(MET):c.2496T>C (p.Asp832=)	SNV Germline	Chr7:116763181	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Renal cell carcinoma Condition: not provided Papillary renal cell carcinoma type 1	Criteria Provided Conflicting Classifications	CA4448495	rs_769035394	4 SubmittersRCV000567708 RCV000875618 RCV005000313 RCV005248318
NM_000245.4(MET):c.1702-3T>C	SNV Germline	Chr7:116755352	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Renal cell carcinoma Papillary renal cell carcinoma type 1	Criteria Provided Conflicting Classifications	CA4448273	rs_754686930	3 SubmittersRCV000567728 RCV000703238 RCV005248321
NM_000245.4(MET):c.4090C>T (p.Pro1364Ser)	SNV Germline	Chr7:116796041	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Renal cell carcinoma Condition: not provided Papillary renal cell carcinoma type 1 Autosomal recessive nonsyndromic hearing loss 97 Hepatocellular carcinoma Osteofibrous dysplasia	Criteria Provided Conflicting Classifications	CA4448826	rs_765332671	4 SubmittersRCV000572542 RCV000704365 RCV001775899 RCV002491137
NM_000245.4(MET):c.803C>T (p.Thr268Ile)	SNV Germline	Chr7:116699887	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Papillary renal cell carcinoma type 1 Renal cell carcinoma Osteofibrous dysplasia Hepatocellular carcinoma Arthrogryposis, distal, IIa 11 Autosomal recessive nonsyndromic hearing loss 97 Papillary renal cell carcinoma type 1	Criteria Provided Conflicting Classifications	CA4448031	rs_757427533	4 SubmittersRCV000572749 RCV000628723 RCV001293446 RCV005034131
NM_000245.4(MET):c.818C>A (p.Thr273Asn)	SNV Germline	Chr7:116699902	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Renal cell carcinoma Papillary renal cell carcinoma type 1 Autosomal recessive nonsyndromic hearing loss 97 Hepatocellular carcinoma Osteofibrous dysplasia Condition: not provided Autosomal recessive nonsyndromic hearing loss 97	Criteria Provided Conflicting Classifications	CA4448034	rs_368144654	5 SubmittersRCV000564380 RCV000628765 RCV002483539 RCV003237941 RCV003465263
NM_000245.4(MET):c.2547G>C (p.Met849Ile)	SNV Germline	Chr7:116763232	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Renal cell carcinoma Condition: not provided Autosomal recessive nonsyndromic hearing loss 97 Hereditary papillary renal cell carcinoma	Criteria Provided Conflicting Classifications	CA4448500	rs_747989932	5 SubmittersRCV000575287 RCV001204046 RCV002286760 RCV003465262 RCV005601010
NM_144997.7(FLCN):c.955G>C (p.Gly319Arg)	SNV Germline	Chr17:17219126	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Birt-Hogg-Dube syndrome Condition: not provided Nonpapillary renal cell carcinoma Colorectal cancer Familial spontaneous pneumothorax Birt-Hogg-Dube syndrome 1 Birt-Hogg-Dube syndrome 1	Criteria Provided Conflicting Classifications	CA8416188	rs_753491072	6 SubmittersRCV000562286 RCV000687129 RCV003478284 RCV005018991 RCV005248298
NM_144997.7(FLCN):c.673G>A (p.Ala225Thr)	SNV Germline	Chr17:17222607	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Birt-Hogg-Dube syndrome Birt-Hogg-Dube syndrome Colorectal cancer Nonpapillary renal cell carcinoma 17p11.2 microduplication syndrome Familial spontaneous pneumothorax	Criteria Provided Conflicting Classifications	CA8416341	rs_769250170	3 SubmittersRCV000560997 RCV001059272 RCV002491135
NM_144997.7(FLCN):c.134C>T (p.Ala45Val)	SNV Germline	Chr17:17228004	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Birt-Hogg-Dube syndrome Birt-Hogg-Dube syndrome 17p11.2 microduplication syndrome Colorectal cancer Familial spontaneous pneumothorax Nonpapillary renal cell carcinoma Birt-Hogg-Dube syndrome 1	Criteria Provided Conflicting Classifications	CA8416512	rs_556510460	8 SubmittersRCV000564102 RCV001171925 RCV001246934 RCV002483538 RCV004791597
NM_144997.7(FLCN):c.1637A>G (p.Asn546Ser)	SNV Germline	Chr17:17213758	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Birt-Hogg-Dube syndrome not specified Condition: not provided Birt-Hogg-Dube syndrome 1 Nonpapillary renal cell carcinoma Colorectal cancer Familial spontaneous pneumothorax Birt-Hogg-Dube syndrome 1	Criteria Provided Conflicting Classifications	CA8415923	rs_775149348	7 SubmittersRCV000570961 RCV000635566 RCV002268200 RCV002461370 RCV005248297 RCV005004254
NM_144997.7(FLCN):c.1285C>T (p.His429Tyr)	SNV Germline	Chr17:17216395	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Birt-Hogg-Dube syndrome Condition: not provided Birt-Hogg-Dube syndrome Colorectal cancer Nonpapillary renal cell carcinoma 17p11.2 microduplication syndrome Familial spontaneous pneumothorax Birt-Hogg-Dube syndrome 1	Criteria Provided Conflicting Classifications	CA8416073	rs_375082054	5 SubmittersRCV000567009 RCV000812782 RCV001755958 RCV002497214 RCV005248306
NM_144997.7(FLCN):c.707A>G (p.Asn236Ser)	SNV Germline	Chr17:17222573	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Birt-Hogg-Dube syndrome Birt-Hogg-Dube syndrome 1 Birt-Hogg-Dube syndrome Colorectal cancer Nonpapillary renal cell carcinoma 17p11.2 microduplication syndrome Familial spontaneous pneumothorax	Criteria Provided Conflicting Classifications	CA398533958	rs_1194767470	4 SubmittersRCV000570714 RCV000692706 RCV004569267 RCV002491136
NM_144997.7(FLCN):c.278C>T (p.Pro93Leu)	SNV Germline	Chr17:17226294	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Birt-Hogg-Dube syndrome Condition: not provided Nonpapillary renal cell carcinoma Colorectal cancer Familial spontaneous pneumothorax Birt-Hogg-Dube syndrome 1 Birt-Hogg-Dube syndrome 1	Criteria Provided Conflicting Classifications	CA8416459	rs_766548696	7 SubmittersRCV000566388 RCV000691012 RCV001564751 RCV005010549 RCV004569264
NM_144997.7(FLCN):c.1084C>T (p.Arg362Cys)	SNV Germline	Chr17:17217161	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Birt-Hogg-Dube syndrome Familial spontaneous pneumothorax not specified Condition: not provided FLCN-related disorder Nonpapillary renal cell carcinoma Colorectal cancer Familial spontaneous pneumothorax Birt-Hogg-Dube syndrome 1	Criteria Provided Conflicting Classifications	CA8416141	rs_557336321	9 SubmittersRCV000564803 RCV000691604 RCV001127833 RCV003321681 RCV003478283 RCV003409849 RCV005004253
NM_144997.7(FLCN):c.779+5C>T	SNV Germline	Chr17:17222496	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Birt-Hogg-Dube syndrome Birt-Hogg-Dube syndrome Colorectal cancer Nonpapillary renal cell carcinoma 17p11.2 microduplication syndrome Familial spontaneous pneumothorax	Criteria Provided Conflicting Classifications	CA8416320	rs_745645385	4 SubmittersRCV000561400 RCV000635571 RCV002506383
NM_144997.7(FLCN):c.346C>A (p.Gln116Lys)	SNV Germline	Chr17:17226226	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Birt-Hogg-Dube syndrome FLCN-related disorder Nonpapillary renal cell carcinoma Birt-Hogg-Dube syndrome 1 Familial spontaneous pneumothorax Colorectal cancer Condition: not provided Birt-Hogg-Dube syndrome 1	Criteria Provided Conflicting Classifications	CA8416449	rs_398124536	10 SubmittersRCV000563415 RCV003321682 RCV000635549 RCV003945353 RCV005010550 RCV003237940 RCV005248301
NM_000551.4(VHL):c.-10C>T	SNV Germline	Chr3:10141838	Conflicting classifications of pathogenicity	not specified Von Hippel-Lindau syndrome Nonpapillary renal cell carcinoma Pheochromocytoma Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA541213514	rs_1192379474	3 SubmittersRCV000609650 RCV002498924 RCV004802290
NM_000551.4(VHL):c.298A>G (p.Thr100Ala)	SNV Germline	Chr3:10142145	Conflicting classifications of pathogenicity	Von Hippel-Lindau syndrome Chuvash polycythemia Condition: not provided Hereditary cancer-predisposing syndrome Nonpapillary renal cell carcinoma Von Hippel-Lindau syndrome Chuvash polycythemia Pheochromocytoma Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA040192	rs_745901803	8 SubmittersRCV000631270 RCV000997987 RCV002255483 RCV002477380 RCV004788047
NM_000245.4(MET):c.306C>G (p.Ser102Arg)	SNV Germline	Chr7:116699390	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Renal cell carcinoma Osteofibrous dysplasia Arthrogryposis, distal, IIa 11 Autosomal recessive nonsyndromic hearing loss 97 Papillary renal cell carcinoma type 1 Hepatocellular carcinoma	Criteria Provided Conflicting Classifications	CA4447973	rs_749383450	3 SubmittersRCV001018441 RCV002233914 RCV005034203
NM_000245.4(MET):c.850A>G (p.Ile284Val)	SNV Germline	Chr7:116699934	Conflicting classifications of pathogenicity	Papillary renal cell carcinoma type 1 Renal cell carcinoma Condition: not provided Hereditary cancer-predisposing syndrome Osteofibrous dysplasia Arthrogryposis, distal, IIa 11 Autosomal recessive nonsyndromic hearing loss 97 Papillary renal cell carcinoma type 1 Hepatocellular carcinoma	Criteria Provided Conflicting Classifications	CA4448040	rs_776014448	5 SubmittersRCV000628763 RCV001312226 RCV005000399 RCV002448925 RCV005034202
NM_000245.4(MET):c.4016C>T (p.Ala1339Val)	SNV Germline	Chr7:116795967	Conflicting classifications of pathogenicity	Renal cell carcinoma Condition: not provided Hereditary cancer-predisposing syndrome Papillary renal cell carcinoma type 1 Autosomal recessive nonsyndromic hearing loss 97	Criteria Provided Conflicting Classifications	CA369118216	rs_1453842331	6 SubmittersRCV000628762 RCV003232061 RCV001021803 RCV003153770 RCV003459488
NM_000245.4(MET):c.1306G>A (p.Glu436Lys)	SNV Germline	Chr7:116731773	Conflicting classifications of pathogenicity	Papillary renal cell carcinoma type 1 Hereditary cancer-predisposing syndrome Renal cell carcinoma	Criteria Provided Conflicting Classifications	CA368972893	rs_200740468	3 SubmittersRCV000628755 RCV001010899 RCV001312217
NM_000245.4(MET):c.1862C>T (p.Thr621Ile)	SNV Germline	Chr7:116755515	Conflicting classifications of pathogenicity	Condition: not provided Renal cell carcinoma Hereditary cancer-predisposing syndrome Osteofibrous dysplasia Autosomal recessive nonsyndromic hearing loss 97 Papillary renal cell carcinoma type 1 Hepatocellular carcinoma not specified	Criteria Provided Conflicting Classifications	CA4448286	rs_375951814	7 SubmittersRCV001756034 RCV000628759 RCV001013433 RCV002483765 RCV004596305
NM_000245.4(MET):c.2375A>G (p.His792Arg)	SNV Germline	Chr7:116763060	Conflicting classifications of pathogenicity	Renal cell carcinoma Hereditary cancer-predisposing syndrome Osteofibrous dysplasia Autosomal recessive nonsyndromic hearing loss 97 Papillary renal cell carcinoma type 1 Hepatocellular carcinoma	Criteria Provided Conflicting Classifications	CA164897661	rs_980467681	3 SubmittersRCV000628747 RCV001015499 RCV002477372
NM_000245.4(MET):c.2073A>G (p.Ser691=)	SNV Germline	Chr7:116757745	Conflicting classifications of pathogenicity	Renal cell carcinoma Hereditary cancer-predisposing syndrome Condition: not provided Papillary renal cell carcinoma type 1	Criteria Provided Conflicting Classifications	CA4448369	rs_765318603	4 SubmittersRCV002232780 RCV003162780 RCV005000400 RCV005248455
NM_000245.4(MET):c.4034T>C (p.Ile1345Thr)	SNV Germline	Chr7:116795985	Conflicting classifications of pathogenicity	Renal cell carcinoma Condition: not provided Osteofibrous dysplasia Autosomal recessive nonsyndromic hearing loss 97 Papillary renal cell carcinoma type 1 Hepatocellular carcinoma Hereditary cancer-predisposing syndrome not specified Autosomal recessive nonsyndromic hearing loss 97 MET-related disorder	Criteria Provided Conflicting Classifications	CA4448820	rs_768188910	7 SubmittersRCV000628769 RCV001766335 RCV000765921 RCV001021839 RCV002268220 RCV003459489 RCV004745512
NM_144997.7(FLCN):c.175C>T (p.Arg59Cys)	SNV Germline	Chr17:17227963	Conflicting classifications of pathogenicity	Birt-Hogg-Dube syndrome Hereditary cancer-predisposing syndrome Condition: not provided Nonpapillary renal cell carcinoma Birt-Hogg-Dube syndrome 1 Colorectal cancer Familial spontaneous pneumothorax FLCN-related disorder Birt-Hogg-Dube syndrome 1	Criteria Provided Conflicting Classifications	CA8416508	rs_778275358	8 SubmittersRCV000635534 RCV001012999 RCV003223660 RCV005004290 RCV004745521 RCV004788052
NM_144997.7(FLCN):c.952G>A (p.Glu318Lys)	SNV Germline	Chr17:17219129	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Birt-Hogg-Dube syndrome Condition: not provided Birt-Hogg-Dube syndrome 1 Nonpapillary renal cell carcinoma Birt-Hogg-Dube syndrome 1 Colorectal cancer Familial spontaneous pneumothorax	Criteria Provided Conflicting Classifications	CA8416189	rs_756787389	5 SubmittersRCV001019466 RCV000635565 RCV003238793 RCV004788054 RCV005004291
NM_000551.4(VHL):c.-73C>T	SNV Germline	Chr3:10141775	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome Pheochromocytoma Nonpapillary renal cell carcinoma Von Hippel-Lindau syndrome not specified	Criteria Provided Conflicting Classifications	CA70041962	rs_1034934219	5 SubmittersRCV000764456 RCV001148529 RCV001796976
NM_000245.4(MET):c.2674G>A (p.Val892Ile)	SNV Germline	Chr7:116769735	Conflicting classifications of pathogenicity	Renal cell carcinoma Hereditary cancer-predisposing syndrome Condition: not provided Papillary renal cell carcinoma type 1 Autosomal recessive nonsyndromic hearing loss 97	Criteria Provided Conflicting Classifications	CA4448547	rs_761243391	5 SubmittersRCV000688057 RCV001016409 RCV001766471 RCV002291687 RCV003465564
NM_000245.4(MET):c.762A>C (p.Glu254Asp)	SNV Germline	Chr7:116699846	Conflicting classifications of pathogenicity	Renal cell carcinoma Hepatocellular carcinoma Autosomal recessive nonsyndromic hearing loss 97 Osteofibrous dysplasia Papillary renal cell carcinoma type 1 Hereditary cancer-predisposing syndrome Condition: not provided Autosomal recessive nonsyndromic hearing loss 97 Papillary renal cell carcinoma type 1 MET-related disorder not specified	Criteria Provided Conflicting Classifications	CA4448024	rs_760278126	10 SubmittersRCV000688808 RCV000765915 RCV001026638 RCV001797126 RCV003465566 RCV002291688 RCV003953235 RCV005231270
NM_000245.4(MET):c.2554A>G (p.Met852Val)	SNV Germline	Chr7:116763239	Conflicting classifications of pathogenicity	Renal cell carcinoma Condition: not provided Hereditary cancer-predisposing syndrome Hereditary papillary renal cell carcinoma	Criteria Provided Conflicting Classifications	CA4448502	rs_762863861	4 SubmittersRCV000706073 RCV001592908 RCV002440541 RCV005601084
NM_144997.7(FLCN):c.86T>C (p.Leu29Pro)	SNV Germline	Chr17:17228052	Conflicting classifications of pathogenicity	Birt-Hogg-Dube syndrome Hereditary cancer-predisposing syndrome Condition: not provided Nonpapillary renal cell carcinoma 17p11.2 microduplication syndrome Familial spontaneous pneumothorax Birt-Hogg-Dube syndrome Colorectal cancer Birt-Hogg-Dube syndrome 1	Criteria Provided Conflicting Classifications	CA8416519	rs_150051278	5 SubmittersRCV000687044 RCV002369833 RCV001556472 RCV002485606 RCV004788117
NM_144997.7(FLCN):c.1382G>A (p.Ser461Asn)	SNV Germline	Chr17:17215235	Conflicting classifications of pathogenicity	Birt-Hogg-Dube syndrome Hereditary cancer-predisposing syndrome Condition: not provided Colorectal cancer Familial spontaneous pneumothorax Nonpapillary renal cell carcinoma Birt-Hogg-Dube syndrome 1	Criteria Provided Conflicting Classifications	CA398531270	rs_1397579538	4 SubmittersRCV000692977 RCV003163163 RCV004997166 RCV005010692
NM_000245.4(MET):c.215T>C (p.Val72Ala)	SNV Germline	Chr7:116699299	Conflicting classifications of pathogenicity	Papillary renal cell carcinoma type 1 Hereditary cancer-predisposing syndrome Renal cell carcinoma Autosomal recessive nonsyndromic hearing loss 97	Criteria Provided Conflicting Classifications	CA164887979	rs_973796037	4 SubmittersRCV000709025 RCV001014489 RCV001358790 RCV003465645
NM_000245.4(MET):c.569A>G (p.Asp190Gly)	SNV Germline	Chr7:116699653	Conflicting classifications of pathogenicity	Papillary renal cell carcinoma type 1 Renal cell carcinoma Papillary renal cell carcinoma type 1 Hepatocellular carcinoma Arthrogryposis, distal, IIa 11 Osteofibrous dysplasia Autosomal recessive nonsyndromic hearing loss 97 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA164888564	rs_1028165414	4 SubmittersRCV000709028 RCV001339744 RCV005034330 RCV002343581
NM_000245.4(MET):c.925A>C (p.Thr309Pro)	SNV Germline	Chr7:116700009	Conflicting classifications of pathogenicity	Papillary renal cell carcinoma type 1 Renal cell carcinoma Hereditary cancer-predisposing syndrome Autosomal recessive nonsyndromic hearing loss 97	Criteria Provided Conflicting Classifications	CA164889217	rs_35601148	4 SubmittersRCV000709030 RCV001293443 RCV002369977 RCV004569399
NM_000245.4(MET):c.1496A>G (p.Asn499Ser)	SNV Germline	Chr7:116740053	Conflicting classifications of pathogenicity	Papillary renal cell carcinoma type 1 Renal cell carcinoma Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA368974257	rs_1253878709	3 SubmittersRCV000709032 RCV001312214 RCV004026761
NM_000245.4(MET):c.1640G>A (p.Arg547Gln)	SNV Germline	Chr7:116740964	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Renal cell carcinoma Hereditary cancer Condition: not provided Papillary renal cell carcinoma type 1 Hepatocellular carcinoma Arthrogryposis, distal, IIa 11 Osteofibrous dysplasia Autosomal recessive nonsyndromic hearing loss 97	Criteria Provided Conflicting Classifications	CA4448214	rs_761951444	8 SubmittersRCV001012533 RCV001328501 RCV003492139 RCV003238200 RCV005034331
NM_000245.4(MET):c.2584-3C>T	SNV Germline	Chr7:116769642	Conflicting classifications of pathogenicity	Papillary renal cell carcinoma type 1 Renal cell carcinoma	Criteria Provided Conflicting Classifications	CA577680501	rs_1337305891	2 SubmittersRCV000709037 RCV003762862
NM_000458.4(HNF1B):c.544C>T (p.Gln182Ter)	SNV Germline	Chr17:37739440	Pathogenic	Renal cysts and diabetes syndrome Condition: not provided Maturity onset diabetes mellitus in young Nonpapillary renal cell carcinoma Type 2 diabetes mellitus Renal cysts and diabetes syndrome Type 2 diabetes mellitus HNF1B-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA398751000	rs_1568670481	11 SubmittersRCV001281137 RCV000713802 RCV002343589 RCV002499296 RCV003227842 RCV004753005
NM_000458.4(HNF1B):c.1654-9T>A	SNV Germline	Chr17:37687401	Conflicting classifications of pathogenicity	Condition: not provided not specified Maturity onset diabetes mellitus in young Type 2 diabetes mellitus Nonpapillary renal cell carcinoma Renal cysts and diabetes syndrome	Criteria Provided Conflicting Classifications	CA8518766	rs_200579660	6 SubmittersRCV000729098 RCV001816796 RCV002464300 RCV005021128
NM_000458.4(HNF1B):c.780G>C (p.Glu260Asp)	SNV Germline	Chr17:37733586	Conflicting classifications of pathogenicity	Condition: not provided Renal cysts and diabetes syndrome HNF1B-related disorder not specified Maturity onset diabetes mellitus in young Nonpapillary renal cell carcinoma Renal cysts and diabetes syndrome Type 2 diabetes mellitus	Criteria Provided Conflicting Classifications	CA8519011	rs_536638039	8 SubmittersRCV000734628 RCV000787147 RCV003424324 RCV001288507 RCV004027087 RCV005010747
NM_000458.4(HNF1B):c.1024T>C (p.Ser342Pro)	SNV Germline	Chr17:37731616	Conflicting classifications of pathogenicity	Renal cysts and diabetes syndrome not specified Congenital anomaly of kidney and urinary tract Nonpapillary renal cell carcinoma Type 2 diabetes mellitus Renal cysts and diabetes syndrome	Criteria Provided Conflicting Classifications	CA398745993	rs_1282596664	5 SubmittersRCV000787100 RCV003994116 RCV001254704 RCV005012308
NM_000458.4(HNF1B):c.865A>G (p.Asn289Asp)	SNV Germline	Chr17:37731775	Pathogenic/Likely pathogenic	Renal cysts and diabetes syndrome Type 2 diabetes mellitus Renal cysts and diabetes syndrome Nonpapillary renal cell carcinoma Hyperechogenic kidneys	Criteria Provided Multiple Submitters No Conflicts	CA398746927	rs_2511801868	3 SubmittersRCV000787125 RCV002493434 RCV003106062
NM_000458.4(HNF1B):c.827G>A (p.Arg276Gln)	SNV Germline	Chr17:37731813	Pathogenic/Likely pathogenic	Renal cysts and diabetes syndrome Condition: not provided Nonpapillary renal cell carcinoma Renal cysts and diabetes syndrome Type 2 diabetes mellitus	Criteria Provided Multiple Submitters No Conflicts	CA398747064	rs_2511802259	7 SubmittersRCV000787134 RCV002535749 RCV005021177
NM_000458.4(HNF1B):c.542G>A (p.Arg181Gln)	SNV Germline	Chr17:37739442	Conflicting classifications of pathogenicity	Condition: not provided Renal cysts and diabetes syndrome Type 2 diabetes mellitus Renal cysts and diabetes syndrome Nonpapillary renal cell carcinoma	Criteria Provided Conflicting Classifications	CA8519066	rs_776195231	3 SubmittersRCV001869185 RCV000787174 RCV005021178
NM_000458.4(HNF1B):c.443C>T (p.Ser148Leu)	SNV Germline	Chr17:37739541	Pathogenic/Likely pathogenic	Renal cysts and diabetes syndrome Congenital anomaly of kidney and urinary tract Condition: not provided Renal cysts and diabetes syndrome Type 2 diabetes mellitus Nonpapillary renal cell carcinoma	Criteria Provided Multiple Submitters No Conflicts	CA398751429	rs_121918674	9 SubmittersRCV001281300 RCV001328307 RCV001785725 RCV002501024
NM_000458.4(HNF1B):c.232G>T (p.Glu78Ter)	SNV Germline	Chr17:37744653	Pathogenic	Renal cysts and diabetes syndrome Type 2 diabetes mellitus Renal cysts and diabetes syndrome Nonpapillary renal cell carcinoma Type 2 diabetes mellitus	Criteria Provided Multiple Submitters No Conflicts	CA398753654	rs_2511850923	3 SubmittersRCV000787244 RCV002501025 RCV001029833
NM_000458.4(HNF1B):c.107C>T (p.Ser36Phe)	SNV Germline	Chr17:37744778	Conflicting classifications of pathogenicity	Renal cysts and diabetes syndrome Maturity onset diabetes mellitus in young Condition: not provided Nonpapillary renal cell carcinoma Renal cysts and diabetes syndrome Type 2 diabetes mellitus not specified	Criteria Provided Conflicting Classifications	CA8519156	rs_544890850	5 SubmittersRCV000787256 RCV001248883 RCV002535751 RCV002487621 RCV005056548
NM_000458.4(HNF1B):c.34C>T (p.Leu12Phe)	SNV Germline	Chr17:37744851	Conflicting classifications of pathogenicity	Renal cysts and diabetes syndrome Condition: not provided HNF1B-related disorder Maturity onset diabetes mellitus in young Nonpapillary renal cell carcinoma Renal cysts and diabetes syndrome Type 2 diabetes mellitus	Criteria Provided Conflicting Classifications	CA398755124	rs_1285239018	6 SubmittersRCV000787259 RCV002259370 RCV003413581 RCV004629324 RCV005021179
NM_000458.4(HNF1B):c.809+1G>A	SNV Germline	Chr17:37733556	Pathogenic/Likely pathogenic	Renal cysts and diabetes syndrome Condition: not provided Type 2 diabetes mellitus Renal cysts and diabetes syndrome Nonpapillary renal cell carcinoma	Criteria Provided Multiple Submitters No Conflicts	CA398747844	rs_1555830002	3 SubmittersRCV000787142 RCV003546602 RCV002487620
NM_000245.4(MET):c.800A>G (p.Glu267Gly)	SNV Germline	Chr7:116699884	Conflicting classifications of pathogenicity	Renal cell carcinoma Hereditary cancer-predisposing syndrome Papillary renal cell carcinoma type 1 Hepatocellular carcinoma Arthrogryposis, distal, IIa 11 Autosomal recessive nonsyndromic hearing loss 97 Osteofibrous dysplasia	Criteria Provided Conflicting Classifications	CA4448030	rs_751564290	3 SubmittersRCV002234741 RCV002422742 RCV005036166
NM_000245.4(MET):c.1414C>T (p.Pro472Ser)	SNV Germline	Chr7:116739971	Conflicting classifications of pathogenicity	Renal cell carcinoma Hereditary cancer-predisposing syndrome Condition: not provided Papillary renal cell carcinoma type 1 Arthrogryposis, distal, IIa 11 Hepatocellular carcinoma Autosomal recessive nonsyndromic hearing loss 97 Osteofibrous dysplasia	Criteria Provided Conflicting Classifications	CA4448162	rs_376589619	4 SubmittersRCV000823670 RCV002390710 RCV004792541 RCV005036229
NM_000245.4(MET):c.1973T>C (p.Val658Ala)	SNV Germline	Chr7:116757645	Conflicting classifications of pathogenicity	Papillary renal cell carcinoma type 1 Renal cell carcinoma	Criteria Provided Conflicting Classifications	CA368979606	rs_1584941533	2 SubmittersRCV000818405 RCV001358785
NM_000245.4(MET):c.3091A>G (p.Met1031Val)	SNV Germline	Chr7:116774943	Conflicting classifications of pathogenicity	Papillary renal cell carcinoma type 1 Intellectual disability Renal cell carcinoma Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA4448648	rs_45564937	5 SubmittersRCV000815970 RCV001252072 RCV001328511 RCV001018806 RCV003222143
NM_000245.4(MET):c.4118A>G (p.Asp1373Gly)	SNV Germline	Chr7:116796069	Conflicting classifications of pathogenicity	Renal cell carcinoma Papillary renal cell carcinoma type 1 Hereditary cancer-predisposing syndrome Condition: not provided Papillary renal cell carcinoma type 1 Arthrogryposis, distal, IIa 11 Hepatocellular carcinoma Autosomal recessive nonsyndromic hearing loss 97 Osteofibrous dysplasia	Criteria Provided Conflicting Classifications	CA4448832	rs_773898036	5 SubmittersRCV000823281 RCV002254714 RCV002332721 RCV002464330 RCV005036228
NM_144997.7(FLCN):c.1363G>A (p.Glu455Lys)	SNV Germline	Chr17:17215254	Conflicting classifications of pathogenicity	Birt-Hogg-Dube syndrome Condition: not provided Hereditary cancer-predisposing syndrome Birt-Hogg-Dube syndrome 1 FLCN-related disorder Birt-Hogg-Dube syndrome Familial spontaneous pneumothorax Nonpapillary renal cell carcinoma Colorectal cancer 17p11.2 microduplication syndrome	Criteria Provided Conflicting Classifications	CA8416017	rs_759637055	7 SubmittersRCV000802282 RCV002259371 RCV002386430 RCV004569584 RCV003908098 RCV002477837
NM_144997.7(FLCN):c.1337G>A (p.Arg446His)	SNV Germline	Chr17:17215280	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Birt-Hogg-Dube syndrome Condition: not provided Birt-Hogg-Dube syndrome Familial spontaneous pneumothorax Nonpapillary renal cell carcinoma Colorectal cancer 17p11.2 microduplication syndrome	Criteria Provided Conflicting Classifications	CA8416025	rs_750104212	4 SubmittersRCV001010835 RCV000809356 RCV002307624 RCV002501096
NM_144997.7(FLCN):c.1102G>A (p.Val368Ile)	SNV Germline	Chr17:17217143	Conflicting classifications of pathogenicity	Birt-Hogg-Dube syndrome Hereditary cancer-predisposing syndrome Condition: not provided FLCN-related disorder Colorectal cancer Nonpapillary renal cell carcinoma Birt-Hogg-Dube syndrome 1 Familial spontaneous pneumothorax	Criteria Provided Conflicting Classifications	CA8416139	rs_767714543	8 SubmittersRCV000808219 RCV001017316 RCV003313151 RCV003413621 RCV005021224
NM_144997.7(FLCN):c.802C>T (p.Arg268Trp)	SNV Germline	Chr17:17221606	Conflicting classifications of pathogenicity	Birt-Hogg-Dube syndrome Hereditary cancer-predisposing syndrome not specified Condition: not provided Nonpapillary renal cell carcinoma Birt-Hogg-Dube syndrome Familial spontaneous pneumothorax Colorectal cancer 17p11.2 microduplication syndrome FLCN-related disorder Birt-Hogg-Dube syndrome 1	Criteria Provided Conflicting Classifications	CA8416287	rs_762370059	8 SubmittersRCV000819183 RCV001027085 RCV002268311 RCV001824384 RCV002507435 RCV003892754 RCV005249095
NM_144997.7(FLCN):c.190G>A (p.Ala64Thr)	SNV Germline	Chr17:17227948	Conflicting classifications of pathogenicity	Birt-Hogg-Dube syndrome Hereditary cancer-predisposing syndrome Condition: not provided Familial spontaneous pneumothorax Nonpapillary renal cell carcinoma Birt-Hogg-Dube syndrome 1 Colorectal cancer Birt-Hogg-Dube syndrome 1	Criteria Provided Conflicting Classifications	CA8416502	rs_778587763	5 SubmittersRCV000805647 RCV003166248 RCV003144627 RCV005012334 RCV004789206
NM_144997.7(FLCN):c.99T>A (p.Asp33Glu)	SNV Germline	Chr17:17228039	Conflicting classifications of pathogenicity	Birt-Hogg-Dube syndrome Hereditary cancer-predisposing syndrome Familial spontaneous pneumothorax Birt-Hogg-Dube syndrome 1 Nonpapillary renal cell carcinoma Colorectal cancer Condition: not provided	Criteria Provided Conflicting Classifications	CA8416515	rs_375348725	4 SubmittersRCV000816744 RCV001019971 RCV005012365 RCV004723233
NM_144997.7(FLCN):c.1432+3G>T	SNV Germline	Chr17:17215182	Conflicting classifications of pathogenicity	Birt-Hogg-Dube syndrome Hereditary cancer-predisposing syndrome Condition: not provided Familial spontaneous pneumothorax Nonpapillary renal cell carcinoma Birt-Hogg-Dube syndrome 1 Colorectal cancer	Criteria Provided Conflicting Classifications	CA8416002	rs_752730139	4 SubmittersRCV000821798 RCV001011551 RCV004997386 RCV005021254
NM_000245.4(MET):c.546C>A (p.Ala182=)	SNV Germline	Chr7:116699630	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Renal cell carcinoma Papillary renal cell carcinoma type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA4448004	rs_570036369	4 SubmittersRCV001024151 RCV000867801 RCV005249179 RCV002282390
NM_000245.4(MET):c.2118T>C (p.Ile706=)	SNV Germline	Chr7:116758474	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Renal cell carcinoma Papillary renal cell carcinoma type 1	Criteria Provided Conflicting Classifications	CA164894222	rs_958023403	4 SubmittersRCV002416045 RCV002539072 RCV000870309 RCV005249205
NM_000245.4(MET):c.600C>G (p.Thr200=)	SNV Germline	Chr7:116699684	Conflicting classifications of pathogenicity	Papillary renal cell carcinoma type 1 Renal cell carcinoma Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA457447791	rs_1225303075	5 SubmittersRCV000871402 RCV001420969 RCV001585834 RCV002352580
NM_000245.4(MET):c.1719A>G (p.Ala573=)	SNV Germline	Chr7:116755372	Conflicting classifications of pathogenicity	Renal cell carcinoma Hereditary cancer-predisposing syndrome MET-related disorder Papillary renal cell carcinoma type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA4448277	rs_199776656	6 SubmittersRCV000874800 RCV002256577 RCV003895353 RCV005249240 RCV004584817
NM_000245.4(MET):c.3321T>C (p.Cys1107=)	SNV Germline	Chr7:116777450	Conflicting classifications of pathogenicity	Renal cell carcinoma Hereditary cancer-predisposing syndrome Condition: not provided Papillary renal cell carcinoma type 1	Criteria Provided Conflicting Classifications	CA457218603	rs_1584959989	4 SubmittersRCV000875730 RCV002454036 RCV003235428 RCV005249248
NM_004958.4(MTOR):c.3026G>A (p.Arg1009Gln)	SNV Germline	Chr1:11228672	Conflicting classifications of pathogenicity	Papillary renal cell carcinoma type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA590334	rs_778855567	2 SubmittersRCV000986236 RCV005092966
NM_004958.4(MTOR):c.889G>A (p.Asp297Asn)	SNV Germline	Chr1:11248046	Conflicting classifications of pathogenicity	Papillary renal cell carcinoma type 1 Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA590850	rs_141936187	5 SubmittersRCV000986237 RCV001519677 RCV001815014
NM_000458.4(HNF1B):c.578T>C (p.Met193Thr)	SNV Germline	Chr17:37733788	Conflicting classifications of pathogenicity	Condition: not provided not specified Renal cysts and diabetes syndrome Type 2 diabetes mellitus Nonpapillary renal cell carcinoma Renal cysts and diabetes syndrome	Criteria Provided Conflicting Classifications	CA398749868	rs_760079000	5 SubmittersRCV000993279 RCV001819702 RCV002489483 RCV005621058
NM_000458.4(HNF1B):c.314A>G (p.Glu105Gly)	SNV Germline	Chr17:37744571	Conflicting classifications of pathogenicity	Condition: not provided Renal cysts and diabetes syndrome Type 2 diabetes mellitus Nonpapillary renal cell carcinoma HNF1B-related disorder	Criteria Provided Conflicting Classifications	CA8519116	rs_375625110	3 SubmittersRCV000993277 RCV002505508 RCV003413784
NM_000245.4(MET):c.367G>A (p.Asp123Asn)	SNV Germline	Chr7:116699451	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Papillary renal cell carcinoma type 1 Renal cell carcinoma Condition: not provided	Criteria Provided Conflicting Classifications	CA4447982	rs_760106468	4 SubmittersRCV001020864 RCV001047517 RCV001293428 RCV001759707
NM_000245.4(MET):c.1627G>A (p.Asp543Asn)	SNV Germline	Chr7:116740951	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Renal cell carcinoma Papillary renal cell carcinoma type 1 Autosomal recessive nonsyndromic hearing loss 97	Criteria Provided Conflicting Classifications	CA4448212	rs_763991073	4 SubmittersRCV001012479 RCV001860711 RCV003153883 RCV003467603
NM_144997.7(FLCN):c.734C>A (p.Thr245Lys)	SNV Germline	Chr17:17222546	Conflicting classifications of pathogenicity	Condition: not provided Colorectal cancer Familial spontaneous pneumothorax Birt-Hogg-Dube syndrome 1 Nonpapillary renal cell carcinoma Hereditary cancer-predisposing syndrome Birt-Hogg-Dube syndrome Birt-Hogg-Dube syndrome 1	Criteria Provided Conflicting Classifications	CA8416328	rs_371401039	6 SubmittersRCV001759715 RCV005004488 RCV001026310 RCV001247341 RCV004570066
NM_144997.7(FLCN):c.703G>A (p.Gly235Ser)	SNV Germline	Chr17:17222577	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Birt-Hogg-Dube syndrome not specified Birt-Hogg-Dube syndrome 1 Colorectal cancer Familial spontaneous pneumothorax Birt-Hogg-Dube syndrome 1 Nonpapillary renal cell carcinoma	Criteria Provided Conflicting Classifications	CA8416335	rs_200693409	6 SubmittersRCV001025960 RCV001209824 RCV003321779 RCV004789362 RCV005012453
NM_144997.7(FLCN):c.611C>T (p.Ala204Val)	SNV Germline	Chr17:17223929	Conflicting classifications of pathogenicity	Birt-Hogg-Dube syndrome Nonpapillary renal cell carcinoma Familial spontaneous pneumothorax Birt-Hogg-Dube syndrome 1 Colorectal cancer Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA8416373	rs_766401197	4 SubmittersRCV001064258 RCV005021334 RCV005411636 RCV001024911
NM_144997.7(FLCN):c.176G>T (p.Arg59Leu)	SNV Germline	Chr17:17227962	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Birt-Hogg-Dube syndrome Birt-Hogg-Dube syndrome 1 Familial spontaneous pneumothorax Colorectal cancer Nonpapillary renal cell carcinoma Birt-Hogg-Dube syndrome 1	Criteria Provided Conflicting Classifications	CA8416507	rs_374969279	5 SubmittersRCV001013095 RCV001055863 RCV004569916 RCV005021324
NM_000245.4(MET):c.3633-4G>A	SNV Germline	Chr7:116783300	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Renal cell carcinoma Papillary renal cell carcinoma type 1	Criteria Provided Conflicting Classifications	CA832021001	rs_1477354447	3 SubmittersRCV001020880 RCV001402938 RCV005245669
NM_000551.4(VHL):c.151G>C (p.Glu51Gln)	SNV Germline	Chr3:10141998	Conflicting classifications of pathogenicity	Von Hippel-Lindau syndrome Chuvash polycythemia Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome Nonpapillary renal cell carcinoma Chuvash polycythemia Pheochromocytoma	Criteria Provided Conflicting Classifications	CA351748282	rs_1480825246	3 SubmittersRCV001042972 RCV004031308 RCV005029601
NM_000245.4(MET):c.811G>A (p.Ala271Thr)	SNV Germline	Chr7:116699895	Conflicting classifications of pathogenicity	Renal cell carcinoma Hereditary cancer-predisposing syndrome Papillary renal cell carcinoma type 1	Criteria Provided Conflicting Classifications	CA368969903	rs_1162540199	3 SubmittersRCV001037254 RCV002416336 RCV005055146
NM_000245.4(MET):c.1450C>T (p.His484Tyr)	SNV Germline	Chr7:116740007	Conflicting classifications of pathogenicity	Papillary renal cell carcinoma type 1 Renal cell carcinoma Hereditary cancer-predisposing syndrome Autosomal recessive nonsyndromic hearing loss 97 Osteofibrous dysplasia Arthrogryposis, distal, IIa 11 Autosomal recessive nonsyndromic hearing loss 97 Papillary renal cell carcinoma type 1 Hepatocellular carcinoma	Criteria Provided Conflicting Classifications	CA4448163	rs_771272439	4 SubmittersRCV001052826 RCV001358788 RCV002393269 RCV003462554 RCV005036345
NM_144997.7(FLCN):c.1277T>C (p.Ile426Thr)	SNV Germline	Chr17:17216403	Conflicting classifications of pathogenicity	Birt-Hogg-Dube syndrome Hereditary cancer-predisposing syndrome Condition: not provided FLCN-related disorder Familial spontaneous pneumothorax Colorectal cancer Nonpapillary renal cell carcinoma Birt-Hogg-Dube syndrome 1	Criteria Provided Conflicting Classifications	CA8416080	rs_766990565	5 SubmittersRCV001053514 RCV002445285 RCV003128742 RCV004746219 RCV005021381
NM_144997.7(FLCN):c.562T>A (p.Phe188Ile)	SNV Germline	Chr17:17223978	Conflicting classifications of pathogenicity	Birt-Hogg-Dube syndrome Hereditary cancer-predisposing syndrome Nonpapillary renal cell carcinoma Birt-Hogg-Dube syndrome Familial spontaneous pneumothorax 17p11.2 microduplication syndrome Colorectal cancer Ovarian cancer Birt-Hogg-Dube syndrome 1	Criteria Provided Conflicting Classifications	CA398534283	rs_1407566775	5 SubmittersRCV001056721 RCV002348418 RCV002505612 RCV003153913 RCV005245718
NM_144997.7(FLCN):c.319G>A (p.Val107Ile)	SNV Germline	Chr17:17226253	Conflicting classifications of pathogenicity	Birt-Hogg-Dube syndrome Condition: not provided Nonpapillary renal cell carcinoma Birt-Hogg-Dube syndrome 1 Familial spontaneous pneumothorax Colorectal cancer Ovarian cancer Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA398534851	rs_1372666497	5 SubmittersRCV001058910 RCV001776114 RCV005012505 RCV003153916 RCV003346290
NM_144997.7(FLCN):c.179C>T (p.Ala60Val)	SNV Germline	Chr17:17227959	Conflicting classifications of pathogenicity	Birt-Hogg-Dube syndrome Hereditary cancer-predisposing syndrome Colorectal cancer Nonpapillary renal cell carcinoma Familial spontaneous pneumothorax Birt-Hogg-Dube syndrome 17p11.2 microduplication syndrome Condition: not provided FLCN-related disorder Birt-Hogg-Dube syndrome 1	Criteria Provided Conflicting Classifications	CA8416505	rs_779900587	6 SubmittersRCV001048408 RCV002409416 RCV002481942 RCV003442168 RCV003393808 RCV005245715
NM_144997.7(FLCN):c.1300+4C>T	SNV Germline	Chr17:17216376	Conflicting classifications of pathogenicity	Birt-Hogg-Dube syndrome Nonpapillary renal cell carcinoma Birt-Hogg-Dube syndrome Familial spontaneous pneumothorax 17p11.2 microduplication syndrome Colorectal cancer Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA625014948	rs_1207963576	3 SubmittersRCV001063632 RCV002479376 RCV004030499
NM_144997.7(FLCN):c.798C>T (p.Gly266=)	SNV Germline	Chr17:17221610	Conflicting classifications of pathogenicity	Familial spontaneous pneumothorax Birt-Hogg-Dube syndrome Nonpapillary renal cell carcinoma Birt-Hogg-Dube syndrome Familial spontaneous pneumothorax 17p11.2 microduplication syndrome Colorectal cancer	Criteria Provided Conflicting Classifications	CA498163764	rs_2047092959	3 SubmittersRCV001122058 RCV001122059 RCV002491378
NM_000245.4(MET):c.2673C>T (p.Ala891=)	SNV Germline	Chr7:116769734	Conflicting classifications of pathogenicity	not specified Renal cell carcinoma Papillary renal cell carcinoma type 1 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA4448546	rs_561131509	5 SubmittersRCV003320806 RCV001503608 RCV001161417 RCV002429783
NM_000245.4(MET):c.2055G>T (p.Gly685=)	SNV Germline	Chr7:116757727	Conflicting classifications of pathogenicity	Renal cell carcinoma Papillary renal cell carcinoma type 1	Criteria Provided Conflicting Classifications	CA457216557	rs_766401668	2 SubmittersRCV001207167 RCV005245788
NM_000551.4(VHL):c.130G>C (p.Gly44Arg)	SNV Germline	Chr3:10141977	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome Pheochromocytoma Chuvash polycythemia Von Hippel-Lindau syndrome Nonpapillary renal cell carcinoma Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA351748058	rs_1575921446	3 SubmittersRCV001233308 RCV002484277 RCV005512962
NM_000551.4(VHL):c.93G>C (p.Glu31Asp)	SNV Germline	Chr3:10141940	Conflicting classifications of pathogenicity	Von Hippel-Lindau syndrome Chuvash polycythemia Von Hippel-Lindau syndrome Nonpapillary renal cell carcinoma Chuvash polycythemia Pheochromocytoma Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA351747611	rs_1438911242	5 SubmittersRCV001243676 RCV005036526 RCV004034759 RCV004803600
NM_000245.4(MET):c.2265-10G>T	SNV Germline	Chr7:116759381	Conflicting classifications of pathogenicity	Renal cell carcinoma Papillary renal cell carcinoma type 1 Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA368981835	rs_1355716761	4 SubmittersRCV001247152 RCV005245802 RCV005429321 RCV003166554
NM_000245.4(MET):c.4122C>A (p.Asn1374Lys)	SNV Germline	Chr7:116796073	Conflicting classifications of pathogenicity	Renal cell carcinoma Hereditary cancer-predisposing syndrome Autosomal recessive nonsyndromic hearing loss 97 Papillary renal cell carcinoma type 1 Hepatocellular carcinoma Osteofibrous dysplasia Condition: not provided	Criteria Provided Conflicting Classifications	CA369118437	rs_370767911	5 SubmittersRCV001247842 RCV002259098 RCV002480850 RCV004720817
NM_000458.4(HNF1B):c.908G>A (p.Arg303His)	SNV Germline	Chr17:37731732	Conflicting classifications of pathogenicity	Renal cysts and diabetes syndrome Maturity onset diabetes mellitus in young Type 2 diabetes mellitus Nonpapillary renal cell carcinoma Renal cysts and diabetes syndrome	Criteria Provided Conflicting Classifications	CA398746770	rs_2033692404	3 SubmittersRCV001253232 RCV002465858 RCV005014310
NM_000245.4(MET):c.2102+5T>G	SNV Germline	Chr7:116757779	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Renal cell carcinoma Papillary renal cell carcinoma type 1	Criteria Provided Conflicting Classifications	CA1737022662	rs_1794247110	3 SubmittersRCV002418889 RCV001296633 RCV005245810
NM_000245.4(MET):c.3403A>T (p.Ser1135Cys)	SNV Germline	Chr7:116778838	Conflicting classifications of pathogenicity	Renal cell carcinoma Hereditary cancer-predisposing syndrome Arthrogryposis, distal, IIa 11 Hepatocellular carcinoma Osteofibrous dysplasia Papillary renal cell carcinoma type 1 Autosomal recessive nonsyndromic hearing loss 97	Criteria Provided Conflicting Classifications	CA368990081	rs_1394199299	3 SubmittersRCV001321691 RCV002341660 RCV005040180
NM_000551.4(VHL):c.88G>C (p.Gly30Arg)	SNV Germline	Chr3:10141935	Conflicting classifications of pathogenicity	Von Hippel-Lindau syndrome Chuvash polycythemia Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome Pheochromocytoma Nonpapillary renal cell carcinoma Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA351747563	rs_913104799	4 SubmittersRCV001351817 RCV002377495 RCV002486456 RCV004005245
NM_144997.7(FLCN):c.1709G>T (p.Arg570Leu)	SNV Germline	Chr17:17213686	Conflicting classifications of pathogenicity	Birt-Hogg-Dube syndrome Birt-Hogg-Dube syndrome Colorectal cancer Nonpapillary renal cell carcinoma Familial spontaneous pneumothorax 17p11.2 microduplication syndrome Hereditary cancer-predisposing syndrome Birt-Hogg-Dube syndrome 1	Criteria Provided Conflicting Classifications	CA288303537	rs_201056799	4 SubmittersRCV001347686 RCV002493791 RCV002404819 RCV004570844
NM_000245.4(MET):c.255G>A (p.Lys85=)	SNV Germline	Chr7:116699339	Conflicting classifications of pathogenicity	Renal cell carcinoma Condition: not provided Hereditary cancer-predisposing syndrome Papillary renal cell carcinoma type 1	Criteria Provided Conflicting Classifications	CA457448015	rs_1327946446	5 SubmittersRCV001443035 RCV001564400 RCV002456741 RCV005246031
NM_000245.4(MET):c.1863-5T>C	SNV Germline	Chr7:116757432	Conflicting classifications of pathogenicity	Renal cell carcinoma Hereditary cancer-predisposing syndrome Papillary renal cell carcinoma type 1	Criteria Provided Conflicting Classifications	CA4448311	rs_751421114	3 SubmittersRCV001435583 RCV004945142 RCV005246007
NM_000458.4(HNF1B):c.231C>G (p.Asp77Glu)	SNV Germline	Chr17:37744654	Conflicting classifications of pathogenicity	Condition: not provided HNF1B-related disorder Renal cysts and diabetes syndrome Type 2 diabetes mellitus Nonpapillary renal cell carcinoma	Criteria Provided Conflicting Classifications	CA290293155	rs_760448993	3 SubmittersRCV001561691 RCV004753366 RCV005005965
NM_000458.4(HNF1B):c.66C>A (p.Thr22=)	SNV Germline	Chr17:37744819	Conflicting classifications of pathogenicity	Condition: not provided Maturity onset diabetes mellitus in young Renal cysts and diabetes syndrome Nonpapillary renal cell carcinoma Type 2 diabetes mellitus	Criteria Provided Conflicting Classifications	CA290293275	rs_906719754	4 SubmittersRCV001757460 RCV002361043 RCV005014650
NM_000245.4(MET):c.617T>C (p.Phe206Ser)	SNV Germline	Chr7:116699701	Conflicting classifications of pathogenicity	Condition: not provided Renal cell carcinoma Hereditary cancer-predisposing syndrome Ovarian cancer Osteofibrous dysplasia Autosomal recessive nonsyndromic hearing loss 97 Arthrogryposis, distal, IIa 11 Papillary renal cell carcinoma type 1 Hepatocellular carcinoma	Criteria Provided Conflicting Classifications	CA4448009	rs_746295363	6 SubmittersRCV001776321 RCV001885127 RCV002359250 RCV003154195 RCV005397014
NM_000245.4(MET):c.2828C>T (p.Thr943Ile)	SNV Germline	Chr7:116771595	Conflicting classifications of pathogenicity	Papillary renal cell carcinoma type 1 Renal cell carcinoma Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA368986605	rs_2116992551	3 SubmittersRCV001829264 RCV002545205 RCV002440897
NM_144997.7(FLCN):c.970C>T (p.Gln324Ter)	SNV Germline	Chr17:17219111	Pathogenic/Likely pathogenic	Birt-Hogg-Dube syndrome Hereditary cancer-predisposing syndrome Familial spontaneous pneumothorax Nonpapillary renal cell carcinoma Birt-Hogg-Dube syndrome 1 Colorectal cancer	Criteria Provided Multiple Submitters No Conflicts	CA398532899	rs_2144896021	3 SubmittersRCV001897169 RCV002370435 RCV005016733
NM_000245.4(MET):c.2016C>T (p.Gly672=)	SNV Germline	Chr7:116757688	Conflicting classifications of pathogenicity	Renal cell carcinoma Papillary renal cell carcinoma type 1 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA4448360	rs_768149852	4 SubmittersRCV001960337 RCV005247307 RCV005370063 RCV005401879
NM_000458.4(HNF1B):c.634C>T (p.Gln212Ter)	SNV Germline	Chr17:37733732	Pathogenic/Likely pathogenic	Condition: not provided Nonpapillary renal cell carcinoma Renal cysts and diabetes syndrome Type 2 diabetes mellitus	Criteria Provided Multiple Submitters No Conflicts	CA398749422	rs_2147553451	2 SubmittersRCV001953701 RCV002492130
NM_000245.4(MET):c.232C>T (p.Leu78Phe)	SNV Germline	Chr7:116699316	Conflicting classifications of pathogenicity	Renal cell carcinoma Hereditary cancer-predisposing syndrome Hereditary papillary renal cell carcinoma	Criteria Provided Conflicting Classifications	CA4447964	rs_766815155	3 SubmittersRCV001944983 RCV003164177 RCV005601815
NM_000551.4(VHL):c.553T>A (p.Tyr185Asn)	SNV Germline	Chr3:10149876	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome Von Hippel-Lindau syndrome Chuvash polycythemia Chuvash polycythemia Nonpapillary renal cell carcinoma Pheochromocytoma Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA041587	rs_768390987	4 SubmittersRCV001905552 RCV004785360 RCV003470996 RCV005038435
NM_000551.4(VHL):c.67T>G (p.Tyr23Asp)	SNV Germline	Chr3:10141914	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome Chuvash polycythemia Pheochromocytoma Von Hippel-Lindau syndrome Nonpapillary renal cell carcinoma Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA351747388	rs_1696118253	3 SubmittersRCV002001124 RCV005032064 RCV004946996
NM_144997.7(FLCN):c.1539-16T>G	SNV Germline	Chr17:17213872	Conflicting classifications of pathogenicity	Birt-Hogg-Dube syndrome Familial spontaneous pneumothorax Nonpapillary renal cell carcinoma Birt-Hogg-Dube syndrome 1 Colorectal cancer Birt-Hogg-Dube syndrome 1	Criteria Provided Conflicting Classifications	CA8415938	rs_553673947	3 SubmittersRCV002124714 RCV005008463 RCV004785496
NM_000245.4(MET):c.3523-10T>C	SNV Germline	Chr7:116781978	Conflicting classifications of pathogenicity	Renal cell carcinoma not specified Condition: not provided Papillary renal cell carcinoma type 1	Criteria Provided Conflicting Classifications	CA2573141532	rs_2117059286	4 SubmittersRCV002186025 RCV003493923 RCV004779261 RCV005248536
NM_000245.4(MET):c.1149G>A (p.Val383=)	SNV Germline	Chr7:116700233	Conflicting classifications of pathogenicity	Renal cell carcinoma Papillary renal cell carcinoma type 1 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA457448153	rs_1033586067	3 SubmittersRCV002108781 RCV005247549 RCV004945959
NM_144997.7(FLCN):c.1432+13A>C	SNV Germline	Chr17:17215172	Conflicting classifications of pathogenicity	Birt-Hogg-Dube syndrome Familial spontaneous pneumothorax Birt-Hogg-Dube syndrome 1 Colorectal cancer Nonpapillary renal cell carcinoma	Criteria Provided Conflicting Classifications	CA8415996	rs_763241810	2 SubmittersRCV002129459 RCV005017133
NM_144997.7(FLCN):c.688C>T (p.Leu230=)	SNV Germline	Chr17:17222592	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Colorectal cancer Birt-Hogg-Dube syndrome 1 Nonpapillary renal cell carcinoma Familial spontaneous pneumothorax	Criteria Provided Conflicting Classifications	CA498164601	rs_1198336361	2 SubmittersRCV002362267 RCV005008560
NM_000458.4(HNF1B):c.516C>T (p.Tyr172=)	SNV Germline	Chr17:37739468	Conflicting classifications of pathogenicity	Maturity onset diabetes mellitus in young Condition: not provided Type 2 diabetes mellitus Nonpapillary renal cell carcinoma Renal cysts and diabetes syndrome	Criteria Provided Conflicting Classifications	CA8519068	rs_764561297	3 SubmittersRCV002465368 RCV003720643 RCV005008591
NM_144997.7(FLCN):c.871+2T>C	SNV Germline	Chr17:17221535	Likely pathogenic	Birt-Hogg-Dube syndrome Familial spontaneous pneumothorax Birt-Hogg-Dube syndrome 1 Nonpapillary renal cell carcinoma Colorectal cancer	Criteria Provided Multiple Submitters No Conflicts	CA398533604	rs_2544218927	3 SubmittersRCV002616398 RCV005021620
NM_000245.4(MET):c.3028+5A>G	SNV Germline	Chr7:116771994	Conflicting classifications of pathogenicity	Renal cell carcinoma Papillary renal cell carcinoma type 1	Criteria Provided Conflicting Classifications	CA2580076374	rs_2485780102	2 SubmittersRCV002610955 RCV005248955
NM_000245.4(MET):c.2265-18T>C	SNV Germline	Chr7:116759373	Conflicting classifications of pathogenicity	Renal cell carcinoma Hereditary cancer-predisposing syndrome Papillary renal cell carcinoma type 1	Criteria Provided Conflicting Classifications	CA457217165	rs_1794308770	3 SubmittersRCV002801457 RCV003367886 RCV005248849
NM_000458.4(HNF1B):c.345-2A>G	SNV Germline	Chr17:37739641	Likely pathogenic	Renal cysts and diabetes syndrome Renal cysts and diabetes syndrome Type 2 diabetes mellitus Nonpapillary renal cell carcinoma	Criteria Provided Multiple Submitters No Conflicts	CA398751766	rs_2511830105	2 SubmittersRCV003444161 RCV004796809
NM_000458.4(HNF1B):c.544+5G>A	SNV Germline	Chr17:37739435	Conflicting classifications of pathogenicity	Type 2 diabetes mellitus Nonpapillary renal cell carcinoma Renal cysts and diabetes syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA2697559834	rs_2511827891	3 SubmittersRCV005013009 RCV003546383
NM_000245.4(MET):c.1056T>C (p.Asp352=)	SNV Germline	Chr7:116700140	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Papillary renal cell carcinoma type 1	Criteria Provided Conflicting Classifications	CA457448279	rs_2116604421	3 SubmittersRCV004523529 RCV005000520 RCV005249694
NM_144997.7(FLCN):c.1356G>A (p.Val452=)	SNV Germline	Chr17:17215261	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial spontaneous pneumothorax Colorectal cancer Nonpapillary renal cell carcinoma Birt-Hogg-Dube syndrome 1	Criteria Provided Conflicting Classifications	CA8416020	rs_760690745	2 SubmittersRCV004524811 RCV005015171
NM_000458.4(HNF1B):c.1038G>A (p.Lys346=)	SNV Germline	Chr17:37731602	Conflicting classifications of pathogenicity	Nonpapillary renal cell carcinoma Renal cysts and diabetes syndrome Type 2 diabetes mellitus Condition: not provided	Criteria Provided Conflicting Classifications			2 SubmittersRCV005020183 RCV005112671
NM_000458.4(HNF1B):c.891C>A (p.Tyr297Ter)	SNV Germline	Chr17:37731749	Likely pathogenic	Nonpapillary renal cell carcinoma Renal cysts and diabetes syndrome Type 2 diabetes mellitus	Criteria Provided Single Submitter			1 SubmittersRCV005020187
NM_000458.4(HNF1B):c.454C>T (p.Gln152Ter)	SNV Germline	Chr17:37739530	Likely pathogenic	Nonpapillary renal cell carcinoma Renal cysts and diabetes syndrome Type 2 diabetes mellitus	Criteria Provided Single Submitter			1 SubmittersRCV005010235
NM_144997.7(FLCN):c.780-10T>C	SNV Germline	Chr17:17221638	Conflicting classifications of pathogenicity	Familial spontaneous pneumothorax Colorectal cancer Nonpapillary renal cell carcinoma Birt-Hogg-Dube syndrome 1 Birt-Hogg-Dube syndrome 1 Birt-Hogg-Dube syndrome	Criteria Provided Conflicting Classifications			3 SubmittersRCV005010178 RCV005249755 RCV005112645
NM_000245.4(MET):c.1443G>A (p.Leu481=)	SNV Germline	Chr7:116740000	Conflicting classifications of pathogenicity	Renal cell carcinoma Papillary renal cell carcinoma type 1	Criteria Provided Conflicting Classifications			2 SubmittersRCV005186708 RCV005249822

SNV
Germline/somatic

Chr3:10149871

Pathogenic

Papillary renal cell carcinoma type 1
Von Hippel-Lindau syndrome
Von Hippel-Lindau syndrome
Chuvash polycythemia
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA020473

rs_5030823

6 SubmittersRCV000002299 RCV000208867 RCV000703889 RCV003162205

NM_000551.4(VHL):c.499C>T (p.Arg167Trp)

SNV
Germline

Chr3:10149822

Pathogenic/Likely pathogenic

Pheochromocytoma
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Von Hippel-Lindau syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Nonpapillary renal cell carcinoma
Chuvash polycythemia
Pheochromocytoma
Chuvash polycythemia

Criteria Provided
Multiple Submitters
No Conflicts

CA020450

rs_5030820

18 SubmittersRCV000002303 RCV000002302 RCV000132159 RCV000213079 RCV000627746 RCV000763092 RCV003992144

NM_000551.4(VHL):c.598C>T (p.Arg200Trp)

SNV
Germline

Chr3:10149921

Conflicting classifications of pathogenicity

Chuvash polycythemia
not specified
Von Hippel-Lindau syndrome
Condition: not provided
Acute leukemia of ambiguous lineage
Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
Chuvash polycythemia
VHL-related disorder
Nonpapillary renal cell carcinoma
Von Hippel-Lindau syndrome
Pheochromocytoma
Chuvash polycythemia
Nonpapillary renal cell carcinoma

Criteria Provided
Conflicting Classifications

CA020510

rs_28940298

24 SubmittersRCV000002320 RCV000122262 RCV000148922 RCV000161094 RCV000722031 RCV000574264 RCV000627742 RCV004742206 RCV002247239 RCV005024991

NM_000551.4(VHL):c.574C>T (p.Pro192Ser)

SNV
Germline

Chr3:10149897

Conflicting classifications of pathogenicity

Chuvash polycythemia
Condition: not provided
Von Hippel-Lindau syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Nonpapillary renal cell carcinoma
Chuvash polycythemia
Pheochromocytoma
Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome

Criteria Provided
Conflicting Classifications

CA020501

rs_28940300

8 SubmittersRCV000002322 RCV000236065 RCV000704063 RCV002490296 RCV001024480 RCV003996075

NM_144997.7(FLCN):c.1333G>A (p.Ala445Thr)

SNV
Germline/somatic

Chr17:17215284

Conflicting classifications of pathogenicity

Carcinoma of colon
Condition: not provided
not specified
Hereditary cancer-predisposing syndrome
Birt-Hogg-Dube syndrome
Familial spontaneous pneumothorax
Birt-Hogg-Dube syndrome 1
Colorectal cancer
Nonpapillary renal cell carcinoma
17p11.2 microduplication syndrome
Familial spontaneous pneumothorax

Criteria Provided
Conflicting Classifications

CA159795

rs_41419545

27 SubmittersRCV000003537 RCV000034789 RCV000121112 RCV000163302 RCV000232087 RCV000336471 RCV005394109

NM_000458.4(HNF1B):c.529C>T (p.Arg177Ter)

SNV
Germline

Chr17:37739455

Pathogenic

Renal cysts and diabetes syndrome
Condition: not provided
Nonpapillary renal cell carcinoma
Renal cysts and diabetes syndrome
Type 2 diabetes mellitus

Criteria Provided
Multiple Submitters
No Conflicts

CA122597

rs_1800575

7 SubmittersRCV000013470 RCV001851826 RCV002496342

NM_000458.4(HNF1B):c.826C>T (p.Arg276Ter)

SNV
Germline

Chr17:37731814

Pathogenic

Renal cysts and diabetes syndrome
Autosomal dominant medullary cystic kidney disease with or without hyperuricemia
Condition: not provided
Nonpapillary renal cell carcinoma
Type 2 diabetes mellitus
Renal cysts and diabetes syndrome
Maturity onset diabetes mellitus in young

Criteria Provided
Multiple Submitters
No Conflicts

CA122601

rs_121918672

11 SubmittersRCV000013475 RCV001328308 RCV002472930 RCV002496343 RCV004689416

NM_000458.4(HNF1B):c.544+1G>A

SNV
Germline

Chr17:37739439

Pathogenic/Likely pathogenic

Renal cysts and diabetes syndrome
Nonpapillary renal cell carcinoma
Renal cysts and diabetes syndrome
Type 2 diabetes mellitus
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA398750998

rs_1568670479

7 SubmittersRCV000013478 RCV002504781 RCV001794444

NM_000458.4(HNF1B):c.494G>A (p.Arg165His)

SNV
Germline

Chr17:37739490

Pathogenic/Likely pathogenic

Renal cysts and diabetes syndrome
Type 2 diabetes mellitus
Nonpapillary renal cell carcinoma
Renal cysts and diabetes syndrome
Type 2 diabetes mellitus
Condition: not provided
Maturity onset diabetes mellitus in young

Criteria Provided
Multiple Submitters
No Conflicts

CA122605

rs_121918675

14 SubmittersRCV000013482 RCV002482860 RCV002466400 RCV001659694 RCV002051783

NM_000245.4(MET):c.3392T>C (p.Met1131Thr)

SNV
Germline

Chr7:116778827

Pathogenic/Likely pathogenic

Papillary renal cell carcinoma type 1
Hereditary cancer-predisposing syndrome
Renal cell carcinoma
Hereditary papillary renal cell carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA256991

rs_121913668

4 SubmittersRCV000014895 RCV000565834 RCV002228027 RCV005600617

NM_000245.4(MET):c.3562G>T (p.Val1188Leu)

SNV
Germline

Chr7:116782027

Pathogenic

Papillary renal cell carcinoma type 1

No Assertion Criteria Provided

CA256994

rs_121913669

1 SubmittersRCV000014896

NM_000245.4(MET):c.3658G>A (p.Val1220Ile)

SNV
Germline

Chr7:116783329

Pathogenic/Likely pathogenic

Papillary renal cell carcinoma type 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Renal cell carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA256997

rs_121913670

5 SubmittersRCV000014897 RCV000221989 RCV001579843 RCV001376555

NM_000245.4(MET):c.3682G>A (p.Asp1228Asn)

SNV
Germline

Chr7:116783353

Pathogenic

Papillary renal cell carcinoma type 1

No Assertion Criteria Provided

CA257000

rs_121913671

1 SubmittersRCV000014898

NM_000245.4(MET):c.3689A>G (p.Tyr1230Cys)

SNV
Germline

Chr7:116783360

Conflicting classifications of pathogenicity

Papillary renal cell carcinoma type 1
Renal cell carcinoma
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA257003

rs_121913246

4 SubmittersRCV000014899 RCV001851861 RCV002362584

NM_000245.4(MET):c.3281A>G (p.His1094Arg)

SNV
Germline

Chr7:116777410

Pathogenic/Likely pathogenic

Papillary renal cell carcinoma type 1
Condition: not provided
Renal cell carcinoma
Hereditary cancer-predisposing syndrome
MET-related disorder
Hepatocellular carcinoma
Autosomal recessive nonsyndromic hearing loss 97
Osteofibrous dysplasia
Arthrogryposis, distal, IIa 11
Papillary renal cell carcinoma type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA221506

rs_121913243

8 SubmittersRCV000014901 RCV000079490 RCV001376564 RCV002321481 RCV003407332 RCV005394153

NM_000458.4(HNF1B):c.1006C>T (p.His336Tyr)

SNV
Germline

Chr17:37731634

Conflicting classifications of pathogenicity

Renal cysts and diabetes syndrome
Condition: not provided
HNF1B-related disorder
Type 2 diabetes mellitus
Renal cysts and diabetes syndrome
Nonpapillary renal cell carcinoma

Criteria Provided
Conflicting Classifications

CA214343

rs_138986885

6 SubmittersRCV000030518 RCV001852605 RCV003398576 RCV005007901

NM_000458.4(HNF1B):c.73G>T (p.Val25Leu)

SNV
Germline/somatic

Chr17:37744812

Conflicting classifications of pathogenicity

Renal cysts and diabetes syndrome
not specified
Condition: not provided
Maturity onset diabetes mellitus in young
Nonpapillary renal cell carcinoma

Criteria Provided
Conflicting Classifications

CA214365

rs_139107479

10 SubmittersRCV000030533 RCV000345835 RCV002054524 RCV002250467 RCV003315522

NM_000551.4(VHL):c.371C>T (p.Thr124Ile)

SNV
Germline

Chr3:10146544

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Hereditary pheochromocytoma-paraganglioma
Chuvash polycythemia
Von Hippel-Lindau syndrome
Nonpapillary renal cell carcinoma
Pheochromocytoma

Criteria Provided
Multiple Submitters
No Conflicts

CA020308

rs_193922610

5 SubmittersRCV000679036 RCV004678597 RCV005222710 RCV005237435 RCV005394178

NM_000245.4(MET):c.2908C>T (p.Arg970Cys)

SNV
Germline

Chr7:116771869

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Papillary renal cell carcinoma type 1
Hereditary cancer-predisposing syndrome
Renal cell carcinoma
MET-related disorder
Hepatocellular carcinoma
Autosomal recessive nonsyndromic hearing loss 97
Osteofibrous dysplasia
Arthrogryposis, distal, IIa 11
Papillary renal cell carcinoma type 1

Criteria Provided
Conflicting Classifications

CA160413

rs_34589476

26 SubmittersRCV000034528 RCV000121339 RCV000123119 RCV000131706 RCV001507128 RCV003914903 RCV005394192

NM_000245.4(MET):c.2975C>T (p.Thr992Ile)

SNV
Germline/somatic

Chr7:116771936

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Papillary renal cell carcinoma type 1
Hereditary cancer-predisposing syndrome
Congenital diaphragmatic hernia
Renal cell carcinoma
Classic Hodgkin lymphoma
MET-related disorder
Hepatocellular carcinoma
Autosomal recessive nonsyndromic hearing loss 97
Osteofibrous dysplasia
Arthrogryposis, distal, IIa 11
Papillary renal cell carcinoma type 1

Criteria Provided
Conflicting Classifications

CA160417

rs_56391007

28 SubmittersRCV000034529 RCV000121340 RCV000123120 RCV000163261 RCV000203290 RCV001507182 RCV002227927 RCV003891465 RCV005394193

NM_000245.4(MET):c.3356G>C (p.Gly1119Ala)

SNV
Germline

Chr7:116778791

Conflicting classifications of pathogenicity

Condition: not provided
Papillary renal cell carcinoma type 1
Hereditary cancer-predisposing syndrome
Renal cell carcinoma
Autosomal recessive nonsyndromic hearing loss 97
not specified

Criteria Provided
Conflicting Classifications

CA215657

rs_201037977

7 SubmittersRCV000034530 RCV000697527 RCV000569927 RCV001328503 RCV003460544 RCV005055534

NM_000245.4(MET):c.504G>T (p.Glu168Asp)

SNV
Germline

Chr7:116699588

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Papillary renal cell carcinoma type 1
Hereditary cancer-predisposing syndrome
Renal cell carcinoma
Hepatocellular carcinoma
Autosomal recessive nonsyndromic hearing loss 97
Osteofibrous dysplasia
Arthrogryposis, distal, IIa 11
Papillary renal cell carcinoma type 1

Criteria Provided
Conflicting Classifications

CA147098

rs_55985569

23 SubmittersRCV000034532 RCV000079496 RCV000119201 RCV000129671 RCV001507196 RCV005394194

NM_000245.4(MET):c.607T>A (p.Ser203Thr)

SNV
Germline

Chr7:116699691

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Autosomal recessive nonsyndromic hearing loss 97
Papillary renal cell carcinoma type 1
Renal cell carcinoma
Intellectual disability

Criteria Provided
Conflicting Classifications

CA188271

rs_200861145

13 SubmittersRCV000034533 RCV000163435 RCV000485340 RCV001333795 RCV005246596 RCV001081506 RCV001252075

NM_000245.4(MET):c.967A>G (p.Ser323Gly)

SNV
Germline

Chr7:116700051

Conflicting classifications of pathogenicity

Condition: not provided
Papillary renal cell carcinoma type 1
Hereditary cancer-predisposing syndrome
Renal cell carcinoma
not specified
Autosomal recessive nonsyndromic hearing loss 97
Osteofibrous dysplasia
Papillary renal cell carcinoma type 1
Hepatocellular carcinoma
Arthrogryposis, distal, IIa 11
MET-related disorder

Criteria Provided
Conflicting Classifications

CA215665

rs_201467281

13 SubmittersRCV000034535 RCV000123136 RCV000563453 RCV001507142 RCV000599960 RCV005394196 RCV003944878

NM_144997.7(FLCN):c.268G>T (p.Ala90Ser)

SNV
Germline

Chr17:17226304

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Birt-Hogg-Dube syndrome
Familial spontaneous pneumothorax
Hereditary cancer-predisposing syndrome
Birt-Hogg-Dube syndrome 1
17p11.2 microduplication syndrome
Nonpapillary renal cell carcinoma
Colorectal cancer
Birt-Hogg-Dube syndrome 1
Familial spontaneous pneumothorax

Criteria Provided
Conflicting Classifications

CA159767

rs_141140415

16 SubmittersRCV000034791 RCV000121101 RCV000227232 RCV000332283 RCV000571977 RCV005246599 RCV005394215

NM_000551.4(VHL):c.208G>A (p.Glu70Lys)

SNV
Germline

Chr3:10142055

Pathogenic/Likely pathogenic

Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Nonpapillary renal cell carcinoma
Pheochromocytoma

Criteria Provided
Multiple Submitters
No Conflicts

CA020108

rs_5030802

9 SubmittersRCV000036540 RCV000492137 RCV001379599 RCV005394221

NM_000551.4(VHL):c.319C>G (p.Arg107Gly)

SNV
Germline

Chr3:10142166

Pathogenic/Likely pathogenic

Von Hippel-Lindau syndrome
Nonpapillary renal cell carcinoma
Chuvash polycythemia
Von Hippel-Lindau syndrome
Pheochromocytoma
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA020257

rs_397516440

3 SubmittersRCV000036542 RCV000763091 RCV002321506

NM_000551.4(VHL):c.464-1G>A

SNV
Germline

Chr3:10149786

Pathogenic/Likely pathogenic

Von Hippel-Lindau syndrome
Condition: not provided
Chuvash polycythemia
Von Hippel-Lindau syndrome
Nonpapillary renal cell carcinoma
Chuvash polycythemia
Von Hippel-Lindau syndrome
Pheochromocytoma
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA020389

rs_5030817

6 SubmittersRCV000036546 RCV000724861 RCV001067480 RCV005031474 RCV004948143

NM_000251.3(MSH2):c.1045C>G (p.Pro349Ala)

SNV
Germline/somatic

Chr2:47416398

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Papillary renal cell carcinoma type 1
Condition: not provided
Mismatch repair cancer syndrome 1
Muir-Torré syndrome
Lynch syndrome 1
not specified
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
Lynch syndrome
Hereditary nonpolyposis colon cancer
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA016975

rs_267607939

18 SubmittersRCV000128932 RCV000148635 RCV000588936 RCV000764423 RCV001844030 RCV000986664 RCV001085377 RCV005357481 RCV002279934 RCV004760366

NM_000245.4(MET):c.1076G>A (p.Arg359Gln)

SNV
Germline

Chr7:116700160

Conflicting classifications of pathogenicity

Condition: not provided
Papillary renal cell carcinoma type 1
Hereditary cancer-predisposing syndrome
Renal cell carcinoma
not specified
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA221494

rs_201274041

10 SubmittersRCV000079480 RCV000123109 RCV000567262 RCV001312208 RCV002267846 RCV004700392

NM_000245.4(MET):c.147A>G (p.Glu49=)

SNV
Germline

Chr7:116699231

Conflicting classifications of pathogenicity

Condition: not provided
Renal cell carcinoma
Hereditary cancer-predisposing syndrome
Papillary renal cell carcinoma type 1

Criteria Provided
Conflicting Classifications

CA221497

rs_398123567

4 SubmittersRCV000079485 RCV001415367 RCV002390233 RCV005246636

NM_144997.7(FLCN):c.1533G>A (p.Trp511Ter)

SNV
Germline

Chr17:17214990

Pathogenic/Likely pathogenic

Condition: not provided
Birt-Hogg-Dube syndrome
Hereditary cancer-predisposing syndrome
Familial spontaneous pneumothorax
Nonpapillary renal cell carcinoma
Colorectal cancer
17p11.2 microduplication syndrome
Birt-Hogg-Dube syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA224159

rs_398124530

7 SubmittersRCV000082630 RCV000239664 RCV002399473 RCV002505009

NM_144997.7(FLCN):c.250-2A>G

SNV
Germline

Chr17:17226324

Pathogenic/Likely pathogenic

Condition: not provided
Birt-Hogg-Dube syndrome
Hereditary cancer-predisposing syndrome
FLCN-related disorder
Nonpapillary renal cell carcinoma
Birt-Hogg-Dube syndrome 1
Familial spontaneous pneumothorax
Colorectal cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA224166

rs_398124533

12 SubmittersRCV000082633 RCV000239670 RCV000492149 RCV003421978 RCV005003458

NM_000245.4(MET):c.1039G>A (p.Ala347Thr)

SNV
Germline

Chr7:116700123

Conflicting classifications of pathogenicity

Papillary renal cell carcinoma type 1
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Renal cell carcinoma
Hereditary cancer
Autosomal recessive nonsyndromic hearing loss 97
MET-related disorder

Criteria Provided
Conflicting Classifications

CA160433

rs_200074800

14 SubmittersRCV000119117 RCV000121345 RCV000567774 RCV000657129 RCV001420970 RCV003492511 RCV003467064 RCV003894956

NM_144997.7(FLCN):c.134C>G (p.Ala45Gly)

SNV
Germline

Chr17:17228004

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Familial spontaneous pneumothorax
Carcinoma of colon
Nonpapillary renal cell carcinoma
17p11.2 microduplication syndrome
Birt-Hogg-Dube syndrome
Birt-Hogg-Dube syndrome
FLCN-related disorder

Criteria Provided
Conflicting Classifications

CA159761

rs_556510460

5 SubmittersRCV000121099 RCV000163762 RCV000765335 RCV000543424 RCV003952599

NM_144997.7(FLCN):c.1283C>T (p.Pro428Leu)

SNV
Germline

Chr17:17216397

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Birt-Hogg-Dube syndrome
Familial spontaneous pneumothorax
Nonpapillary renal cell carcinoma
Colorectal cancer
17p11.2 microduplication syndrome
Birt-Hogg-Dube syndrome
Condition: not provided
Birt-Hogg-Dube syndrome 1

Criteria Provided
Conflicting Classifications

CA159789

rs_199889477

7 SubmittersRCV000121110 RCV000568600 RCV000635530 RCV002483217 RCV004719701 RCV004786380

NM_144997.7(FLCN):c.1049G>A (p.Arg350Gln)

SNV
Germline

Chr17:17219032

Conflicting classifications of pathogenicity

not specified
Birt-Hogg-Dube syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial spontaneous pneumothorax
Nonpapillary renal cell carcinoma
Colorectal cancer
17p11.2 microduplication syndrome
Birt-Hogg-Dube syndrome
Birt-Hogg-Dube syndrome 1

Criteria Provided
Conflicting Classifications

CA159798

rs_190786280

10 SubmittersRCV000121113 RCV000535074 RCV000573718 RCV001562933 RCV002492423 RCV005246656

NM_000245.4(MET):c.71G>A (p.Gly24Glu)

SNV
Germline

Chr7:116699155

Conflicting classifications of pathogenicity

not specified
Lymphedema
Papillary renal cell carcinoma type 1
Renal cell carcinoma
Hereditary cancer-predisposing syndrome
Condition: not provided
MET-related disorder

Criteria Provided
Conflicting Classifications

CA160439

rs_180985111

11 SubmittersRCV000121347 RCV000148614 RCV000167873 RCV001450079 RCV000210818 RCV001560219 RCV003965017

NM_000245.4(MET):c.1771C>T (p.Arg591Trp)

SNV
Germline

Chr7:116755424

Conflicting classifications of pathogenicity

not specified
Papillary renal cell carcinoma type 1
Hereditary cancer-predisposing syndrome
Renal cell carcinoma
Condition: not provided
MET-related disorder
Autosomal recessive nonsyndromic hearing loss 97
Squamous cell lung carcinoma
Breast carcinoma

Criteria Provided
Conflicting Classifications

CA332158

rs_45602940

11 SubmittersRCV000121353 RCV000206655 RCV000210762 RCV001293429 RCV001562214 RCV003945083 RCV004567048 RCV005429001

NM_000245.4(MET):c.1972G>A (p.Val658Ile)

SNV
Germline

Chr7:116757644

Conflicting classifications of pathogenicity

not specified
Papillary renal cell carcinoma type 1
Renal cell carcinoma
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA160456

rs_587778446

6 SubmittersRCV000121354 RCV000303828 RCV001312221 RCV001775598 RCV001013805

NM_000551.4(VHL):c.3G>A (p.Met1Ile)

SNV
Germline

Chr3:10141850

Conflicting classifications of pathogenicity

not specified
Von Hippel-Lindau syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Chuvash polycythemia
Nonpapillary renal cell carcinoma
Pheochromocytoma
Von Hippel-Lindau syndrome

Criteria Provided
Conflicting Classifications

CA020331

rs_578091032

13 SubmittersRCV000122260 RCV000409700 RCV000467198 RCV000657025 RCV000492595 RCV002483231

NM_000551.4(VHL):c.274G>T (p.Asp92Tyr)

SNV
Germline

Chr3:10142121

Conflicting classifications of pathogenicity

Von Hippel-Lindau syndrome
Chuvash polycythemia
Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
Von Hippel-Lindau syndrome
Chuvash polycythemia
Pheochromocytoma
Nonpapillary renal cell carcinoma

Criteria Provided
Conflicting Classifications

CA020217

rs_587780731

5 SubmittersRCV000123105 RCV001016495 RCV004786385 RCV005025201

NM_000245.4(MET):c.1412G>A (p.Gly471Glu)

SNV
Germline

Chr7:116739969

Conflicting classifications of pathogenicity

Papillary renal cell carcinoma type 1
Hereditary cancer-predisposing syndrome
Renal cell carcinoma
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA189064

rs_373312981

9 SubmittersRCV000123113 RCV000163732 RCV001358784 RCV001544764 RCV002267864

NM_000245.4(MET):c.3218C>T (p.Pro1073Leu)

SNV
Germline

Chr7:116775070

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Renal cell carcinoma
Papillary renal cell carcinoma type 1
not specified
Osteofibrous dysplasia
Arthrogryposis, distal, IIa 11
Hepatocellular carcinoma
Autosomal recessive nonsyndromic hearing loss 97
Papillary renal cell carcinoma type 1
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA189948

rs_370529693

11 SubmittersRCV000164064 RCV001534185 RCV001312227 RCV005246658 RCV002228447 RCV005031633 RCV003492548

NM_000245.4(MET):c.4007G>A (p.Arg1336Gln)

SNV
Germline

Chr7:116795958

Conflicting classifications of pathogenicity

Papillary renal cell carcinoma type 1
Hereditary cancer-predisposing syndrome
Autosomal recessive nonsyndromic hearing loss 97
Renal cell carcinoma
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA332674

rs_369312680

7 SubmittersRCV000123123 RCV001021780 RCV004567065 RCV002228636 RCV003318551 RCV002465526

NM_000245.4(MET):c.467C>T (p.Ser156Leu)

SNV
Germline

Chr7:116699551

Conflicting classifications of pathogenicity

Papillary renal cell carcinoma type 1
Hereditary cancer-predisposing syndrome
Renal cell carcinoma
not specified
Condition: not provided
Hereditary cancer
MET-related disorder

Criteria Provided
Conflicting Classifications

CA332680

rs_56311081

8 SubmittersRCV000123126 RCV000572531 RCV001450089 RCV002465527 RCV001557296 RCV003492549 RCV003975093

NM_000245.4(MET):c.689C>T (p.Thr230Met)

SNV
Germline

Chr7:116699773

Conflicting classifications of pathogenicity

Papillary renal cell carcinoma type 1
Renal cell carcinoma
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Autosomal recessive nonsyndromic hearing loss 97

Criteria Provided
Conflicting Classifications

CA332692

rs_587780740

6 SubmittersRCV000123131 RCV002228448 RCV002371957 RCV001753507 RCV002465528 RCV003467092

NM_144997.7(FLCN):c.619-20C>T

SNV
Germline

Chr17:17222681

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Birt-Hogg-Dube syndrome
Familial spontaneous pneumothorax
Nonpapillary renal cell carcinoma
Colorectal cancer
17p11.2 microduplication syndrome
Birt-Hogg-Dube syndrome
Birt-Hogg-Dube syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA290941

rs_202217257

7 SubmittersRCV000253017 RCV001812046 RCV002055543 RCV002505087 RCV005246660 RCV005251075

NM_144997.7(FLCN):c.499C>T (p.Gln167Ter)

SNV
Germline

Chr17:17224041

Pathogenic

Hereditary cancer-predisposing syndrome
Birt-Hogg-Dube syndrome
Condition: not provided
Birt-Hogg-Dube syndrome
Nonpapillary renal cell carcinoma
Familial spontaneous pneumothorax
17p11.2 microduplication syndrome
Colorectal cancer
Birt-Hogg-Dube syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA166645

rs_587782069

7 SubmittersRCV000130556 RCV000239654 RCV000255173 RCV002498642 RCV005437969

NM_000245.4(MET):c.406G>A (p.Val136Ile)

SNV
Germline

Chr7:116699490

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Papillary renal cell carcinoma type 1
Condition: not provided
Osteofibrous dysplasia
Papillary renal cell carcinoma type 1
Autosomal recessive nonsyndromic hearing loss 97
Hepatocellular carcinoma
Breast carcinoma
Renal cell carcinoma
MET-related disorder
not specified
Osteofibrous dysplasia
Papillary renal cell carcinoma type 1
Autosomal recessive nonsyndromic hearing loss 97
Arthrogryposis, distal, IIa 11
Hepatocellular carcinoma
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA167281

rs_199701987

15 SubmittersRCV000130870 RCV000199439 RCV000484898 RCV000515234 RCV001262296 RCV001328509 RCV003415953 RCV003320572 RCV005394482 RCV005235038

NM_000245.4(MET):c.901A>G (p.Thr301Ala)

SNV
Germline

Chr7:116699985

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Renal cell carcinoma
not specified
Autosomal recessive nonsyndromic hearing loss 97
Papillary renal cell carcinoma type 1
Hereditary papillary renal cell carcinoma

Criteria Provided
Conflicting Classifications

CA189854

rs_201687037

12 SubmittersRCV000153491 RCV000164028 RCV000198491 RCV002267890 RCV001333796 RCV005246672 RCV005600749

NM_000551.4(VHL):c.5C>T (p.Pro2Leu)

SNV
Germline

Chr3:10141852

Conflicting classifications of pathogenicity

Condition: not provided
Chuvash polycythemia
Von Hippel-Lindau syndrome
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
not specified
VHL-related disorder
Nonpapillary renal cell carcinoma
Von Hippel-Lindau syndrome
Chuvash polycythemia
Nonpapillary renal cell carcinoma
Pheochromocytoma
Von Hippel-Lindau syndrome

Criteria Provided
Conflicting Classifications

CA020518

rs_111246617

14 SubmittersRCV000161089 RCV000168429 RCV000294881 RCV000492422 RCV000781920 RCV003416030 RCV005359388 RCV005025251

NM_000551.4(VHL):c.482G>A (p.Arg161Gln)

SNV
Germline

Chr3:10149805

Pathogenic

Chuvash polycythemia
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Von Hippel-Lindau syndrome
Chuvash polycythemia
Pheochromocytoma
Nonpapillary renal cell carcinoma
Von Hippel-Lindau syndrome
VHL-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA020413

rs_730882035

11 SubmittersRCV000456958 RCV000563066 RCV000161092 RCV000208848 RCV005394565 RCV004742286

NM_000551.4(VHL):c.209A>G (p.Glu70Gly)

SNV
Germline

Chr3:10142056

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Chuvash polycythemia
Condition: not provided
Nonpapillary renal cell carcinoma
Pheochromocytoma
Chuvash polycythemia
Von Hippel-Lindau syndrome

Criteria Provided
Conflicting Classifications

CA020113

rs_786202857

5 SubmittersRCV000165891 RCV000227354 RCV003462191 RCV001545934 RCV005025264

NM_000551.4(VHL):c.275A>T (p.Asp92Val)

SNV
Germline

Chr3:10142122

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Condition: not provided
Chuvash polycythemia
Nonpapillary renal cell carcinoma
Pheochromocytoma
Von Hippel-Lindau syndrome
VHL-related disorder
Chuvash polycythemia

Criteria Provided
Conflicting Classifications

CA020224

rs_749091984

9 SubmittersRCV000163954 RCV000412307 RCV000525495 RCV000679028 RCV002485013 RCV003389706 RCV003462123

NM_000245.4(MET):c.1081G>T (p.Ala361Ser)

SNV
Germline

Chr7:116700165

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Renal cell carcinoma
Autosomal recessive nonsyndromic hearing loss 97
Condition: not provided
Osteofibrous dysplasia
Hepatocellular carcinoma
Papillary renal cell carcinoma type 1
Autosomal recessive nonsyndromic hearing loss 97

Criteria Provided
Conflicting Classifications

CA192400

rs_786202310

5 SubmittersRCV000165054 RCV001218524 RCV003468731 RCV004777608 RCV002498817

NM_000245.4(MET):c.1669A>G (p.Thr557Ala)

SNV
Germline

Chr7:116740993

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Papillary renal cell carcinoma type 1
Hepatocellular carcinoma
Papillary renal cell carcinoma type 1
Osteofibrous dysplasia
Autosomal recessive nonsyndromic hearing loss 97
Renal cell carcinoma
Hepatocellular carcinoma
Papillary renal cell carcinoma type 1
Osteofibrous dysplasia
Arthrogryposis, distal, IIa 11
Autosomal recessive nonsyndromic hearing loss 97
MET-related disorder
Autosomal recessive nonsyndromic hearing loss 97
Condition: not provided

Criteria Provided
Conflicting Classifications

CA188720

rs_374733251

11 SubmittersRCV000163595 RCV000167933 RCV000765920 RCV001293448 RCV005031678 RCV003398834 RCV003467280 RCV001812140

NM_000245.4(MET):c.2825C>T (p.Ser942Leu)

SNV
Germline

Chr7:116771592

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Autosomal recessive nonsyndromic hearing loss 97
Renal cell carcinoma
Osteofibrous dysplasia
Arthrogryposis, distal, IIa 11
Hepatocellular carcinoma
Papillary renal cell carcinoma type 1
Autosomal recessive nonsyndromic hearing loss 97
Condition: not provided
not specified
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA195544

rs_375576430

7 SubmittersRCV000166311 RCV003462209 RCV001293426 RCV005042337 RCV001589036 RCV004596092 RCV005235073

NM_000245.4(MET):c.3274G>A (p.Val1092Ile)

SNV
Germline

Chr7:116777403

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Papillary renal cell carcinoma type 1
Renal cell carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA193972

rs_786202724

4 SubmittersRCV000165679 RCV000709041 RCV001376633

NM_000245.4(MET):c.3798+5T>C

SNV
Germline

Chr7:116783474

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Renal cell carcinoma
MET-related disorder
Papillary renal cell carcinoma type 1

Criteria Provided
Conflicting Classifications

CA189312

rs_368150874

8 SubmittersRCV000163837 RCV000826579 RCV000196883 RCV003927541 RCV005246700

NM_144997.7(FLCN):c.1635C>G (p.Asp545Glu)

SNV
Germline

Chr17:17213760

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Birt-Hogg-Dube syndrome
not specified
Birt-Hogg-Dube syndrome 1
Condition: not provided
17p11.2 microduplication syndrome
Nonpapillary renal cell carcinoma
Colorectal cancer
Birt-Hogg-Dube syndrome
Familial spontaneous pneumothorax

Criteria Provided
Conflicting Classifications

CA188379

rs_760329266

9 SubmittersRCV000163471 RCV000231877 RCV002267903 RCV005246692 RCV001539507 RCV002485010

NM_144997.7(FLCN):c.1283C>A (p.Pro428His)

SNV
Germline

Chr17:17216397

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Birt-Hogg-Dube syndrome
Condition: not provided
Nonpapillary renal cell carcinoma
Birt-Hogg-Dube syndrome
17p11.2 microduplication syndrome
Familial spontaneous pneumothorax
Colorectal cancer
Birt-Hogg-Dube syndrome 1

Criteria Provided
Conflicting Classifications

CA189480

rs_199889477

7 SubmittersRCV000163906 RCV000529447 RCV001544699 RCV002492651 RCV004567235

NM_144997.7(FLCN):c.139G>C (p.Glu47Gln)

SNV
Germline

Chr17:17227999

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Birt-Hogg-Dube syndrome
Familial spontaneous pneumothorax
Nonpapillary renal cell carcinoma
Birt-Hogg-Dube syndrome
17p11.2 microduplication syndrome
Colorectal cancer
Condition: not provided

Criteria Provided
Conflicting Classifications

CA196505

rs_369115472

6 SubmittersRCV000166697 RCV000465657 RCV002492672 RCV002280106

NM_000245.4(MET):c.40C>T (p.Leu14Phe)

SNV
Germline

Chr7:116699124

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Renal cell carcinoma
Autosomal recessive nonsyndromic hearing loss 97
Condition: not provided
Hereditary cancer
Papillary renal cell carcinoma type 1
Hepatocellular carcinoma
Papillary renal cell carcinoma type 1
MET-related disorder

Criteria Provided
Conflicting Classifications

CA334069

rs_763344951

9 SubmittersRCV000561286 RCV001293449 RCV003468821 RCV001564694 RCV004700517 RCV005361045 RCV005246755 RCV004745246

NM_000245.4(MET):c.1132G>A (p.Val378Ile)

SNV
Germline

Chr7:116700216

Conflicting classifications of pathogenicity

Papillary renal cell carcinoma type 1
Autosomal recessive nonsyndromic hearing loss 97
Renal cell carcinoma
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary papillary renal cell carcinoma
Arthrogryposis, distal, IIa 11
Papillary renal cell carcinoma type 1
Hepatocellular carcinoma
Autosomal recessive nonsyndromic hearing loss 97
Osteofibrous dysplasia

Criteria Provided
Conflicting Classifications

CA334728

rs_749738523

9 SubmittersRCV000168398 RCV003468833 RCV001293437 RCV001562203 RCV001009954 RCV005600798 RCV005396501

NM_000245.4(MET):c.1715G>A (p.Ser572Asn)

SNV
Germline

Chr7:116755368

Conflicting classifications of pathogenicity

Papillary renal cell carcinoma type 1
Hereditary cancer-predisposing syndrome
not specified
Hepatoblastoma
Renal cell carcinoma
MET-related disorder

Criteria Provided
Conflicting Classifications

CA334713

rs_199771406

10 SubmittersRCV000168390 RCV000564000 RCV000610933 RCV001843487 RCV001507175 RCV003927559

NM_000245.4(MET):c.2198C>T (p.Thr733Ile)

SNV
Germline

Chr7:116758554

Conflicting classifications of pathogenicity

Renal cell carcinoma
Hereditary cancer-predisposing syndrome
Condition: not provided
MET-related disorder
Papillary renal cell carcinoma type 1

Criteria Provided
Conflicting Classifications

CA334650

rs_201271860

7 SubmittersRCV000168360 RCV000574096 RCV001823122 RCV003407623 RCV005055084

NM_000245.4(MET):c.2909G>A (p.Arg970His)

SNV
Germline

Chr7:116771870

Conflicting classifications of pathogenicity

Papillary renal cell carcinoma type 1
Renal cell carcinoma
Hereditary cancer-predisposing syndrome
not specified
Autosomal recessive nonsyndromic hearing loss 97
Condition: not provided

Criteria Provided
Conflicting Classifications

CA334261

rs_45607832

7 SubmittersRCV000168093 RCV001293451 RCV001017689 RCV002267924 RCV003468824 RCV002281988

NM_000458.4(HNF1B):c.226G>T (p.Gly76Cys)

SNV
Germline

Chr17:37744659

Conflicting classifications of pathogenicity

not specified
Renal cysts and diabetes syndrome
Condition: not provided
Congenital anomaly of kidney and urinary tract
Nonpapillary renal cell carcinoma
HNF1B-related disorder

Criteria Provided
Conflicting Classifications

CA200314

rs_144425830

14 SubmittersRCV000173138 RCV000369522 RCV000993276 RCV001328309 RCV003316074 RCV003947459

NM_000245.4(MET):c.1932C>T (p.His644=)

SNV
Germline

Chr7:116757506

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Renal cell carcinoma
Papillary renal cell carcinoma type 1
MET-related disorder

Criteria Provided
Conflicting Classifications

CA247119

rs_45520237

6 SubmittersRCV000724818 RCV000561630 RCV001088858 RCV005246757 RCV003955091

NM_000245.4(MET):c.632T>G (p.Leu211Trp)

SNV
Germline

Chr7:116699716

Conflicting classifications of pathogenicity

Papillary renal cell carcinoma type 1
Hereditary cancer-predisposing syndrome
Renal cell carcinoma
Condition: not provided
not specified
Osteofibrous dysplasia
Papillary renal cell carcinoma type 1
Arthrogryposis, distal, IIa 11
Autosomal recessive nonsyndromic hearing loss 97
Hepatocellular carcinoma

Criteria Provided
Conflicting Classifications

CA337368

rs_45483396

7 SubmittersRCV000197671 RCV001025145 RCV001450055 RCV001706186 RCV003320598 RCV005396614

NM_000245.4(MET):c.665C>T (p.Thr222Met)

SNV
Germline

Chr7:116699749

Conflicting classifications of pathogenicity

Renal cell carcinoma
Hereditary cancer-predisposing syndrome
Condition: not provided
MET-related disorder
Papillary renal cell carcinoma type 1
not specified

Criteria Provided
Conflicting Classifications

CA338708

rs_200776610

7 SubmittersRCV000199544 RCV000570390 RCV001555971 RCV004745273 RCV005055087 RCV005406938

NM_000245.4(MET):c.1451A>G (p.His484Arg)

SNV
Germline

Chr7:116740008

Conflicting classifications of pathogenicity

Papillary renal cell carcinoma type 1
Hereditary cancer-predisposing syndrome
Renal cell carcinoma
Condition: not provided
not specified
Autosomal recessive nonsyndromic hearing loss 97
MET-related disorder

Criteria Provided
Conflicting Classifications

CA339400

rs_781545528

7 SubmittersRCV000200572 RCV001011655 RCV001293439 RCV003148673 RCV003320597 RCV003468909 RCV004745271

NM_000245.4(MET):c.3236A>G (p.His1079Arg)

SNV
Germline

Chr7:116775088

Conflicting classifications of pathogenicity

Renal cell carcinoma
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Autosomal recessive nonsyndromic hearing loss 97
Papillary renal cell carcinoma type 1

Criteria Provided
Conflicting Classifications

CA337203

rs_758292223

10 SubmittersRCV000197429 RCV000574985 RCV001529563 RCV003493488 RCV003474959 RCV005246779

NM_000245.4(MET):c.4075G>A (p.Val1359Ile)

SNV
Germline

Chr7:116796026

Conflicting classifications of pathogenicity

Papillary renal cell carcinoma type 1
Hereditary cancer-predisposing syndrome
Renal cell carcinoma
Autosomal recessive nonsyndromic hearing loss 97
Condition: not provided

Criteria Provided
Conflicting Classifications

CA337278

rs_752669237

6 SubmittersRCV000197534 RCV000569392 RCV001358794 RCV004567437 RCV003238734

NM_000551.4(VHL):c.544A>G (p.Arg182Gly)

SNV
Germline

Chr3:10149867

Conflicting classifications of pathogenicity

Chuvash polycythemia
Von Hippel-Lindau syndrome
Condition: not provided
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Chuvash polycythemia
Chuvash polycythemia
Pheochromocytoma
Von Hippel-Lindau syndrome
Nonpapillary renal cell carcinoma

Criteria Provided
Conflicting Classifications

CA041490

rs_778205243

9 SubmittersRCV000204757 RCV000235376 RCV000663322 RCV001024120 RCV004567477 RCV005031779

NM_000551.4(VHL):c.628C>T (p.Arg210Trp)

SNV
Germline

Chr3:10149951

Conflicting classifications of pathogenicity

Von Hippel-Lindau syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Maffucci syndrome
Chuvash polycythemia
not specified
Von Hippel-Lindau syndrome
Pheochromocytoma
Nonpapillary renal cell carcinoma
Chuvash polycythemia

Criteria Provided
Conflicting Classifications

CA041992

rs_774380450

10 SubmittersRCV000204248 RCV000662950 RCV000568942 RCV001582712 RCV002467673 RCV003468958 RCV005230083 RCV005031778

NM_000245.4(MET):c.1063G>A (p.Glu355Lys)

SNV
Germline

Chr7:116700147

Conflicting classifications of pathogenicity

Renal cell carcinoma
Hereditary cancer-predisposing syndrome
Condition: not provided
MET-related disorder
Papillary renal cell carcinoma type 1
Autosomal recessive nonsyndromic hearing loss 97
not specified

Criteria Provided
Conflicting Classifications

CA349838

rs_561295443

8 SubmittersRCV000205721 RCV000568155 RCV003148678 RCV004745278 RCV005055090 RCV003468933 RCV003493498

NM_000245.4(MET):c.2555T>A (p.Met852Lys)

SNV
Germline

Chr7:116763240

Conflicting classifications of pathogenicity

Renal cell carcinoma
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Osteofibrous dysplasia
Hepatocellular carcinoma
Papillary renal cell carcinoma type 1
Autosomal recessive nonsyndromic hearing loss 97

Criteria Provided
Conflicting Classifications

CA349639

rs_369758288

6 SubmittersRCV000205486 RCV001775668 RCV002433900 RCV003493494 RCV002503800

NM_000245.4(MET):c.4100C>G (p.Ser1367Cys)

SNV
Germline

Chr7:116796051

Conflicting classifications of pathogenicity

Papillary renal cell carcinoma type 1
Hereditary cancer-predisposing syndrome
Renal cell carcinoma

Criteria Provided
Conflicting Classifications

CA350109

rs_747239403

3 SubmittersRCV000206041 RCV000573151 RCV002229176

NM_000245.4(MET):c.4145G>A (p.Arg1382Gln)

SNV
Germline

Chr7:116796096

Conflicting classifications of pathogenicity

Renal cell carcinoma
Condition: not provided
not specified
Hereditary cancer-predisposing syndrome
Osteofibrous dysplasia
Hepatocellular carcinoma
Papillary renal cell carcinoma type 1
Autosomal recessive nonsyndromic hearing loss 97
Arthrogryposis, distal, IIa 11

Criteria Provided
Conflicting Classifications

CA349710

rs_752694306

6 SubmittersRCV000205567 RCV001775670 RCV002267939 RCV002256115 RCV005396639

NM_000551.4(VHL):c.554A>G (p.Tyr185Cys)

SNV
Germline

Chr3:10149877

Conflicting classifications of pathogenicity

Von Hippel-Lindau syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Chuvash polycythemia
Pheochromocytoma
Nonpapillary renal cell carcinoma
Von Hippel-Lindau syndrome
VHL-related disorder
Chuvash polycythemia
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA041601

rs_561874453

13 SubmittersRCV000208797 RCV000236099 RCV000565491 RCV000631260 RCV002485365 RCV003422117 RCV003462397 RCV005230091

NM_144997.7(FLCN):c.1709G>A (p.Arg570His)

SNV
Germline

Chr17:17213686

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Birt-Hogg-Dube syndrome
Condition: not provided
Birt-Hogg-Dube syndrome 1
Colorectal cancer
Familial spontaneous pneumothorax
Nonpapillary renal cell carcinoma

Criteria Provided
Conflicting Classifications

CA8415911

rs_201056799

4 SubmittersRCV000213870 RCV000701876 RCV001555199 RCV005003565

NM_144997.7(FLCN):c.1364A>G (p.Glu455Gly)

SNV
Germline

Chr17:17215253

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Birt-Hogg-Dube syndrome
Colorectal cancer
17p11.2 microduplication syndrome
Birt-Hogg-Dube syndrome
Familial spontaneous pneumothorax
Nonpapillary renal cell carcinoma
Condition: not provided
Birt-Hogg-Dube syndrome 1

Criteria Provided
Conflicting Classifications

CA8416016

rs_199786696

6 SubmittersRCV000223022 RCV000687348 RCV002485418 RCV003128597 RCV004786575

NM_144997.7(FLCN):c.1085G>T (p.Arg362Leu)

SNV
Germline

Chr17:17217160

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Birt-Hogg-Dube syndrome
Condition: not provided
Birt-Hogg-Dube syndrome 1
Ovarian cancer
Nonpapillary renal cell carcinoma
Familial spontaneous pneumothorax
Birt-Hogg-Dube syndrome 1
Colorectal cancer

Criteria Provided
Conflicting Classifications

CA8416140

rs_559055296

7 SubmittersRCV000216453 RCV000635561 RCV001753671 RCV004567609 RCV003153506 RCV005016597

NM_144997.7(FLCN):c.779+1G>T

SNV
Germline

Chr17:17222500

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Birt-Hogg-Dube syndrome
Condition: not provided
not specified
17p11.2 microduplication syndrome
Carcinoma of colon
Birt-Hogg-Dube syndrome
Familial spontaneous pneumothorax
Nonpapillary renal cell carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA8416321

rs_758175953

12 SubmittersRCV000218992 RCV000239675 RCV000255322 RCV000506237 RCV000762981

NM_000551.4(VHL):c.3G>T (p.Met1Ile)

SNV
Germline

Chr3:10141850

Conflicting classifications of pathogenicity

Chuvash polycythemia
Von Hippel-Lindau syndrome
Condition: not provided
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Chuvash polycythemia
Pheochromocytoma
Von Hippel-Lindau syndrome
Nonpapillary renal cell carcinoma
not specified

Criteria Provided
Conflicting Classifications

CA040825

rs_578091032

9 SubmittersRCV000228663 RCV000236708 RCV000411808 RCV000562501 RCV002487052 RCV002307459

NM_000551.4(VHL):c.172C>T (p.Arg58Trp)

SNV
Germline

Chr3:10142019

Conflicting classifications of pathogenicity

Chuvash polycythemia
Von Hippel-Lindau syndrome
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Chuvash polycythemia
Pheochromocytoma
Von Hippel-Lindau syndrome
Nonpapillary renal cell carcinoma
Condition: not provided

Criteria Provided
Conflicting Classifications

CA039640

rs_757781272

8 SubmittersRCV000230639 RCV000663291 RCV001012878 RCV002500764 RCV003151759

NM_144997.7(FLCN):c.614T>C (p.Leu205Pro)

SNV
Germline

Chr17:17223926

Conflicting classifications of pathogenicity

Birt-Hogg-Dube syndrome
Hereditary cancer-predisposing syndrome
Nonpapillary renal cell carcinoma
Birt-Hogg-Dube syndrome 1
Colorectal cancer
Familial spontaneous pneumothorax
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10583456

rs_878855219

4 SubmittersRCV000232477 RCV001024947 RCV005003583 RCV004725120

NM_144997.7(FLCN):c.82C>T (p.Pro28Ser)

SNV
Germline

Chr17:17228056

Conflicting classifications of pathogenicity

Birt-Hogg-Dube syndrome
Familial spontaneous pneumothorax
Hereditary cancer-predisposing syndrome
Colorectal cancer
17p11.2 microduplication syndrome
Birt-Hogg-Dube syndrome
Familial spontaneous pneumothorax
Nonpapillary renal cell carcinoma
Condition: not provided
Birt-Hogg-Dube syndrome 1

Criteria Provided
Conflicting Classifications

CA8416522

rs_749758787

7 SubmittersRCV000229497 RCV000380278 RCV001027381 RCV002500821 RCV003151763 RCV005361467

NM_000551.4(VHL):c.463+4C>T

SNV
Germline

Chr3:10146640

Conflicting classifications of pathogenicity

Chuvash polycythemia
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Von Hippel-Lindau syndrome
Chuvash polycythemia
Nonpapillary renal cell carcinoma
Pheochromocytoma
Von Hippel-Lindau syndrome

Criteria Provided
Conflicting Classifications

CA10584230

rs_879253989

6 SubmittersRCV000560865 RCV001022813 RCV000679042 RCV003998905 RCV005025396

NM_000245.4(MET):c.1484C>G (p.Thr495Arg)

SNV
Germline

Chr7:116740041

Conflicting classifications of pathogenicity

Papillary renal cell carcinoma type 1
Hereditary cancer-predisposing syndrome
Renal cell carcinoma
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 97

Criteria Provided
Conflicting Classifications

CA4448168

rs_45585831

5 SubmittersRCV000236379 RCV000568824 RCV001328504 RCV001785527 RCV003463705

NM_000245.4(MET):c.1853C>T (p.Thr618Met)

SNV
Germline

Chr7:116755506

Conflicting classifications of pathogenicity

Renal cell carcinoma
Hereditary cancer-predisposing syndrome
Hepatocellular carcinoma
Autosomal recessive nonsyndromic hearing loss 97
Osteofibrous dysplasia
Arthrogryposis, distal, IIa 11
Papillary renal cell carcinoma type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4448284

rs_753407699

5 SubmittersRCV000235673 RCV000573538 RCV005044500 RCV003225052

NM_000245.4(MET):c.3221G>A (p.Ser1074Asn)

SNV
Germline

Chr7:116775073

Conflicting classifications of pathogenicity

Renal cell carcinoma
Hereditary cancer-predisposing syndrome
Papillary renal cell carcinoma type 1
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 97

Criteria Provided
Conflicting Classifications

CA4448665

rs_752641437

5 SubmittersRCV000236470 RCV000560927 RCV002291612 RCV005621927 RCV004567793

NM_000245.4(MET):c.1336A>G (p.Ile446Val)

SNV
Germline

Chr7:116731803

Conflicting classifications of pathogenicity

Renal cell carcinoma
Hereditary cancer-predisposing syndrome
Condition: not provided
Hepatocellular carcinoma
Autosomal recessive nonsyndromic hearing loss 97
Osteofibrous dysplasia
Papillary renal cell carcinoma type 1

Criteria Provided
Conflicting Classifications

CA4448135

rs_779022887

4 SubmittersRCV000239364 RCV000574879 RCV003114412 RCV002487111

NM_144997.7(FLCN):c.1432+1G>A

SNV
Germline

Chr17:17215184

Pathogenic/Likely pathogenic

Birt-Hogg-Dube syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial spontaneous pneumothorax
Colorectal cancer
Nonpapillary renal cell carcinoma
Birt-Hogg-Dube syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10586251

rs_755959303

7 SubmittersRCV000239711 RCV000492464 RCV000254996 RCV005016650

NM_144997.7(FLCN):c.1429C>T (p.Arg477Ter)

SNV
Germline

Chr17:17215188

Pathogenic

Hereditary cancer-predisposing syndrome
Birt-Hogg-Dube syndrome
Condition: not provided
not specified
17p11.2 microduplication syndrome
Carcinoma of colon
Birt-Hogg-Dube syndrome
Familial spontaneous pneumothorax
Nonpapillary renal cell carcinoma
Colorectal cancer
Familial spontaneous pneumothorax
Nonpapillary renal cell carcinoma
Birt-Hogg-Dube syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10586252

rs_879255678

11 SubmittersRCV000567617 RCV000239684 RCV000256142 RCV000507127 RCV000762980 RCV005008214

NM_144997.7(FLCN):c.716G>A (p.Arg239His)

SNV
Germline

Chr17:17222564

Conflicting classifications of pathogenicity

Birt-Hogg-Dube syndrome
Hereditary cancer-predisposing syndrome
Familial spontaneous pneumothorax
Colorectal cancer
Nonpapillary renal cell carcinoma
Birt-Hogg-Dube syndrome 1
Condition: not provided
Birt-Hogg-Dube syndrome 1

Criteria Provided
Conflicting Classifications

CA8416333

rs_753948488

6 SubmittersRCV000239701 RCV000561577 RCV005003593 RCV001527887 RCV005246920

NM_144997.7(FLCN):c.1062+2T>G

SNV
Germline

Chr17:17219017

Pathogenic

Condition: not provided
Birt-Hogg-Dube syndrome
Hereditary cancer-predisposing syndrome
17p11.2 microduplication syndrome
Colorectal cancer
Birt-Hogg-Dube syndrome
Familial spontaneous pneumothorax
Nonpapillary renal cell carcinoma
Hypoparathyroidism

Criteria Provided
Multiple Submitters
No Conflicts

CA10588640

rs_886039370

7 SubmittersRCV000254745 RCV000812531 RCV001009818 RCV002479990 RCV005625490

NM_000458.4(HNF1B):c.1025C>T (p.Ser342Phe)

SNV
Germline

Chr17:37731615

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Maturity onset diabetes mellitus in young
Renal cysts and diabetes syndrome
Nonpapillary renal cell carcinoma
Type 2 diabetes mellitus
Renal cysts and diabetes syndrome

Criteria Provided
Conflicting Classifications

CA8518947

rs_780035561

6 SubmittersRCV000386201 RCV001820823 RCV002465609 RCV005396888 RCV001125734

NM_000458.4(HNF1B):c.884G>A (p.Arg295His)

SNV
Germline

Chr17:37731756

Conflicting classifications of pathogenicity

Condition: not provided
Renal cysts and diabetes syndrome
Type 2 diabetes mellitus
Nonpapillary renal cell carcinoma
Renal cysts and diabetes syndrome

Criteria Provided
Conflicting Classifications

CA10605981

rs_886043813

8 SubmittersRCV000713806 RCV000787122 RCV001535983

NM_000245.4(MET):c.1320A>G (p.Thr440=)

SNV
Germline

Chr7:116731787

Conflicting classifications of pathogenicity

Papillary renal cell carcinoma type 1
Hereditary cancer-predisposing syndrome
Renal cell carcinoma

Criteria Provided
Conflicting Classifications

CA4448132

rs_763726060

4 SubmittersRCV000393162 RCV002379246 RCV001519329

NM_000245.4(MET):c.1965+11T>G

SNV
Germline

Chr7:116757550

Conflicting classifications of pathogenicity

Papillary renal cell carcinoma type 1
Renal cell carcinoma

Criteria Provided
Conflicting Classifications

CA10623054

rs_780230492

2 SubmittersRCV000366689 RCV003761942

NM_000245.4(MET):c.1693A>G (p.Ile565Val)

SNV
Germline

Chr7:116741017

Conflicting classifications of pathogenicity

Papillary renal cell carcinoma type 1
Hereditary cancer-predisposing syndrome
Renal cell carcinoma

Criteria Provided
Conflicting Classifications

CA4448221

rs_745479104

3 SubmittersRCV000313310 RCV002411253 RCV001328510

NM_000245.4(MET):c.4074C>T (p.Asn1358=)

SNV
Germline

Chr7:116796025

Conflicting classifications of pathogenicity

Papillary renal cell carcinoma type 1
Condition: not provided
Renal cell carcinoma
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA4448823

rs_772860611

5 SubmittersRCV000288231 RCV000840849 RCV001420985 RCV002328874

NM_000245.4(MET):c.1174C>A (p.Pro392Thr)

SNV
Germline

Chr7:116700258

Conflicting classifications of pathogenicity

Papillary renal cell carcinoma type 1
Hereditary cancer-predisposing syndrome
Osteofibrous dysplasia
Papillary renal cell carcinoma type 1
Autosomal recessive nonsyndromic hearing loss 97
Hepatocellular carcinoma
Renal cell carcinoma
Autosomal recessive nonsyndromic hearing loss 97
not specified

Criteria Provided
Conflicting Classifications

CA10628009

rs_886061943

6 SubmittersRCV000335138 RCV000570504 RCV000765918 RCV001312205 RCV003470320 RCV003320637

NM_000245.4(MET):c.1011G>A (p.Leu337=)

SNV
Germline

Chr7:116700095

Conflicting classifications of pathogenicity

Papillary renal cell carcinoma type 1
Renal cell carcinoma
not specified

Criteria Provided
Conflicting Classifications

CA10628122

rs_886061942

4 SubmittersRCV000327973 RCV001485226 RCV004596169

NM_144997.7(FLCN):c.1430G>A (p.Arg477Gln)

SNV
Germline

Chr17:17215187

Conflicting classifications of pathogenicity

Birt-Hogg-Dube syndrome
Condition: not provided
Spontaneous pneumothorax
Birt-Hogg-Dube syndrome
Familial spontaneous pneumothorax
17p11.2 microduplication syndrome
Carcinoma of colon
Nonpapillary renal cell carcinoma
Hereditary cancer-predisposing syndrome
Birt-Hogg-Dube syndrome 1

Criteria Provided
Conflicting Classifications

CA8416005

rs_748878853

9 SubmittersRCV000266163 RCV000414396 RCV000379332 RCV000765332 RCV001011546 RCV005246927

NM_144997.7(FLCN):c.-487G>C

SNV
Germline

Chr17:17237171

Conflicting classifications of pathogenicity

Familial spontaneous pneumothorax
Birt-Hogg-Dube syndrome
Condition: not provided
Familial spontaneous pneumothorax
Nonpapillary renal cell carcinoma
Colorectal cancer
Birt-Hogg-Dube syndrome 1
FLCN-related disorder

Criteria Provided
Conflicting Classifications

CA10644979

rs_1736209

5 SubmittersRCV000301565 RCV000359232 RCV001712042 RCV005365247 RCV004745341

NM_144997.7(FLCN):c.-299C>T

SNV
Germline

Chr17:17236983

Conflicting classifications of pathogenicity

Birt-Hogg-Dube syndrome
Familial spontaneous pneumothorax
Colorectal cancer
Nonpapillary renal cell carcinoma
Birt-Hogg-Dube syndrome 1
Familial spontaneous pneumothorax
Condition: not provided
FLCN-related disorder

Criteria Provided
Conflicting Classifications

CA10648714

rs_1708629

5 SubmittersRCV000296363 RCV000408011 RCV005355642 RCV001683291 RCV004745340

NM_000458.4(HNF1B):c.541C>T (p.Arg181Ter)

SNV
Germline

Chr17:37739443

Pathogenic

Condition: not provided
Renal cysts and diabetes syndrome
See cases
Maturity onset diabetes mellitus in young
Type 2 diabetes mellitus
Renal cysts and diabetes syndrome
Nonpapillary renal cell carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA16043028

rs_1057517744

11 SubmittersRCV000413356 RCV000787179 RCV004797807 RCV002348127 RCV005010306

NM_000551.4(VHL):c.28G>A (p.Glu10Lys)

SNV
Germline

Chr3:10141875

Conflicting classifications of pathogenicity

Von Hippel-Lindau syndrome
Von Hippel-Lindau syndrome
Chuvash polycythemia
Hereditary cancer-predisposing syndrome
Condition: not provided
Chuvash polycythemia
Pheochromocytoma
Von Hippel-Lindau syndrome
Nonpapillary renal cell carcinoma
Chuvash polycythemia

Criteria Provided
Conflicting Classifications

CA16043991

rs_1057519261

9 SubmittersRCV000415643 RCV000476548 RCV001016912 RCV001584111 RCV003463824 RCV002488864

NM_000551.4(VHL):c.1A>T (p.Met1Leu)

SNV
Germline

Chr3:10141848

Conflicting classifications of pathogenicity

Von Hippel-Lindau syndrome
Chuvash polycythemia
Condition: not provided
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
Chuvash polycythemia
Nonpapillary renal cell carcinoma
Pheochromocytoma

Criteria Provided
Conflicting Classifications

CA16611052

rs_1060503557

6 SubmittersRCV000458939 RCV000579235 RCV000663055 RCV002418424 RCV005027533

NM_000551.4(VHL):c.235C>G (p.Arg79Gly)

SNV
Germline

Chr3:10142082

Conflicting classifications of pathogenicity

Von Hippel-Lindau syndrome
Chuvash polycythemia
Pheochromocytoma
Von Hippel-Lindau syndrome
Chuvash polycythemia
Nonpapillary renal cell carcinoma
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16611065

rs_200885420

4 SubmittersRCV000475786 RCV002475891 RCV004022892 RCV004722797

NM_000551.4(VHL):c.429C>T (p.Asp143=)

SNV
Germline

Chr3:10146602

Conflicting classifications of pathogenicity

Chuvash polycythemia
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
not specified
Von Hippel-Lindau syndrome
Condition: not provided
Pheochromocytoma
Nonpapillary renal cell carcinoma
Chuvash polycythemia
Von Hippel-Lindau syndrome

Criteria Provided
Conflicting Classifications

CA040956

rs_773556807

6 SubmittersRCV000470382 RCV000564320 RCV000613763 RCV004002229 RCV002056727 RCV005027539

NM_000551.4(VHL):c.620C>T (p.Ala207Val)

SNV
Germline

Chr3:10149943

Conflicting classifications of pathogenicity

Chuvash polycythemia
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Chuvash polycythemia
Pheochromocytoma
Nonpapillary renal cell carcinoma
Von Hippel-Lindau syndrome
Condition: not provided
Von Hippel-Lindau syndrome

Criteria Provided
Conflicting Classifications

CA16611076

rs_1060503549

5 SubmittersRCV000461637 RCV002365666 RCV005027532 RCV003317228 RCV004802021

NM_000551.4(VHL):c.323G>A (p.Arg108His)

SNV
Germline

Chr3:10142170

Conflicting classifications of pathogenicity

Chuvash polycythemia
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Von Hippel-Lindau syndrome
Chuvash polycythemia
Pheochromocytoma
Nonpapillary renal cell carcinoma
Von Hippel-Lindau syndrome

Criteria Provided
Conflicting Classifications

CA040275

rs_367594943

6 SubmittersRCV000458083 RCV001019385 RCV002269278 RCV004001987 RCV002489087

NM_000551.4(VHL):c.373C>T (p.His125Tyr)

SNV
Germline

Chr3:10146546

Conflicting classifications of pathogenicity

Chuvash polycythemia
Von Hippel-Lindau syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
Pheochromocytoma
Nonpapillary renal cell carcinoma
Chuvash polycythemia
Von Hippel-Lindau syndrome

Criteria Provided
Conflicting Classifications

CA040676

rs_375401722

8 SubmittersRCV000462284 RCV000479517 RCV000708764 RCV002272247 RCV002489086

NM_000551.4(VHL):c.548C>T (p.Ser183Leu)

SNV
Germline

Chr3:10149871

Conflicting classifications of pathogenicity

Chuvash polycythemia
Von Hippel-Lindau syndrome
Chuvash polycythemia
Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
Condition: not provided
Pheochromocytoma
Nonpapillary renal cell carcinoma
Chuvash polycythemia
Von Hippel-Lindau syndrome

Criteria Provided
Conflicting Classifications

CA041537

rs_5030823

9 SubmittersRCV000476376 RCV001007624 RCV002349982 RCV004001991 RCV003237874 RCV005027537

NM_000551.4(VHL):c.21C>A (p.Asn7Lys)

SNV
Germline

Chr3:10141868

Conflicting classifications of pathogenicity

Chuvash polycythemia
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Chuvash polycythemia
Pheochromocytoma
Nonpapillary renal cell carcinoma
Von Hippel-Lindau syndrome

Criteria Provided
Conflicting Classifications

CA16611156

rs_1060503561

5 SubmittersRCV000462197 RCV000574549 RCV001356021 RCV005027534

NM_000551.4(VHL):c.613C>T (p.Arg205Cys)

SNV
Germline

Chr3:10149936

Conflicting classifications of pathogenicity

Chuvash polycythemia
Von Hippel-Lindau syndrome
Condition: not provided
Chuvash polycythemia
Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
Chuvash polycythemia
Pheochromocytoma
Nonpapillary renal cell carcinoma
Von Hippel-Lindau syndrome

Criteria Provided
Conflicting Classifications

CA041940

rs_199926195

7 SubmittersRCV000471333 RCV000481600 RCV004568086 RCV002356704 RCV004787738 RCV005027535

NM_000245.4(MET):c.37G>A (p.Val13Met)

SNV
Germline

Chr7:116699121

Conflicting classifications of pathogenicity

Renal cell carcinoma
Hereditary cancer-predisposing syndrome
Condition: not provided
Papillary renal cell carcinoma type 1

Criteria Provided
Conflicting Classifications

CA4447934

rs_781777052

4 SubmittersRCV000476283 RCV000572036 RCV001591102 RCV005055117

NM_000245.4(MET):c.2755G>A (p.Val919Ile)

SNV
Germline

Chr7:116771522

Conflicting classifications of pathogenicity

Renal cell carcinoma
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Papillary renal cell carcinoma type 1
Autosomal recessive nonsyndromic hearing loss 97

Criteria Provided
Conflicting Classifications

CA4448584

rs_759522148

6 SubmittersRCV000459574 RCV000574997 RCV001584167 RCV003493586 RCV003153641 RCV003470496

NM_000245.4(MET):c.2971C>T (p.Pro991Ser)

SNV
Germline

Chr7:116771932

Conflicting classifications of pathogenicity

Papillary renal cell carcinoma type 1
Condition: not provided
Osteofibrous dysplasia
Hereditary cancer-predisposing syndrome
Renal cell carcinoma

Criteria Provided
Conflicting Classifications

CA4448619

rs_768678989

5 SubmittersRCV000476062 RCV001755706 RCV001788226 RCV001018130 RCV001312218

NM_000245.4(MET):c.3864C>T (p.Asn1288=)

SNV
Germline

Chr7:116795720

Conflicting classifications of pathogenicity

Renal cell carcinoma
Condition: not provided
Hereditary cancer-predisposing syndrome
Papillary renal cell carcinoma type 1
MET-related disorder

Criteria Provided
Conflicting Classifications

CA4448792

rs_768627036

6 SubmittersRCV000461403 RCV002051857 RCV002257756 RCV005248042 RCV003401505

NM_000245.4(MET):c.143C>G (p.Ala48Gly)

SNV
Germline

Chr7:116699227

Conflicting classifications of pathogenicity

Renal cell carcinoma
Hepatocellular carcinoma
Autosomal recessive nonsyndromic hearing loss 97
Osteofibrous dysplasia
Papillary renal cell carcinoma type 1
Hereditary cancer-predisposing syndrome
Autosomal recessive nonsyndromic hearing loss 97

Criteria Provided
Conflicting Classifications

CA4447947

rs_80256822

4 SubmittersRCV000458343 RCV000765914 RCV002393162 RCV003463962

NM_000245.4(MET):c.4150G>A (p.Ala1384Thr)

SNV
Germline

Chr7:116796101

Conflicting classifications of pathogenicity

Renal cell carcinoma
Hereditary cancer-predisposing syndrome
Condition: not provided
Hepatocellular carcinoma
Autosomal recessive nonsyndromic hearing loss 97
Osteofibrous dysplasia
Papillary renal cell carcinoma type 1
Arthrogryposis, distal, IIa 11
Autosomal recessive nonsyndromic hearing loss 97

Criteria Provided
Conflicting Classifications

CA4448838

rs_758486336

6 SubmittersRCV000472109 RCV001022049 RCV003223643 RCV005034001 RCV003463961

NM_144997.7(FLCN):c.1022G>A (p.Arg341Gln)

SNV
Germline

Chr17:17219059

Conflicting classifications of pathogenicity

Birt-Hogg-Dube syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Birt-Hogg-Dube syndrome 1
Colorectal cancer
Familial spontaneous pneumothorax
Birt-Hogg-Dube syndrome 1
Nonpapillary renal cell carcinoma

Criteria Provided
Conflicting Classifications

CA8416172

rs_375352888

9 SubmittersRCV000475669 RCV001017036 RCV001528486 RCV004568037 RCV005018784

NM_144997.7(FLCN):c.257G>A (p.Arg86Gln)

SNV
Germline

Chr17:17226315

Conflicting classifications of pathogenicity

Birt-Hogg-Dube syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Colorectal cancer
Familial spontaneous pneumothorax
Birt-Hogg-Dube syndrome 1
Nonpapillary renal cell carcinoma

Criteria Provided
Conflicting Classifications

CA8416463

rs_765550303

6 SubmittersRCV000468705 RCV002282153 RCV001016003 RCV005010361

NM_144997.7(FLCN):c.748C>A (p.Leu250Met)

SNV
Germline

Chr17:17222532

Conflicting classifications of pathogenicity

Birt-Hogg-Dube syndrome
Hereditary cancer-predisposing syndrome
Nonpapillary renal cell carcinoma
17p11.2 microduplication syndrome
Birt-Hogg-Dube syndrome
Colorectal cancer
Familial spontaneous pneumothorax
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16615122

rs_898441209

5 SubmittersRCV000462755 RCV000492271 RCV002481438 RCV002480409

NM_144997.7(FLCN):c.249+2C>T

SNV
Germline

Chr17:17227887

Conflicting classifications of pathogenicity

Birt-Hogg-Dube syndrome
Nonpapillary renal cell carcinoma
17p11.2 microduplication syndrome
Birt-Hogg-Dube syndrome
Colorectal cancer
Familial spontaneous pneumothorax
Hereditary cancer-predisposing syndrome
Birt-Hogg-Dube syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16615123

rs_939223011

6 SubmittersRCV000456150 RCV002489055 RCV003298490 RCV004022725 RCV003477973

NM_144997.7(FLCN):c.113G>T (p.Ser38Ile)

SNV
Germline

Chr17:17228025

Conflicting classifications of pathogenicity

Birt-Hogg-Dube syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
FLCN-related disorder
not specified
Birt-Hogg-Dube syndrome 1
Nonpapillary renal cell carcinoma
17p11.2 microduplication syndrome
Birt-Hogg-Dube syndrome
Colorectal cancer
Familial spontaneous pneumothorax

Criteria Provided
Conflicting Classifications

CA8416514

rs_139418842

8 SubmittersRCV000469363 RCV001017432 RCV001558005 RCV003409629 RCV001844165 RCV004787729 RCV002489056

NM_144997.7(FLCN):c.535C>T (p.Arg179Trp)

SNV
Germline

Chr17:17224005

Conflicting classifications of pathogenicity

Birt-Hogg-Dube syndrome
Hereditary cancer-predisposing syndrome
17p11.2 microduplication syndrome
Condition: not provided
Familial spontaneous pneumothorax
17p11.2 microduplication syndrome
Nonpapillary renal cell carcinoma
Birt-Hogg-Dube syndrome
Colorectal cancer
not specified
Birt-Hogg-Dube syndrome 1

Criteria Provided
Conflicting Classifications

CA8416388

rs_774358971

9 SubmittersRCV000467918 RCV001023971 RCV001198849 RCV001568283 RCV002480410 RCV003321612 RCV005247044

NM_000551.4(VHL):c.221T>C (p.Val74Ala)

SNV
Germline

Chr3:10142068

Conflicting classifications of pathogenicity

Condition: not provided
Chuvash polycythemia
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Pheochromocytoma
Nonpapillary renal cell carcinoma
Chuvash polycythemia
Von Hippel-Lindau syndrome

Criteria Provided
Conflicting Classifications

CA16617786

rs_5030803

4 SubmittersRCV000484327 RCV000698497 RCV005298500 RCV002475938

NM_000551.4(VHL):c.614G>A (p.Arg205His)

SNV
Germline

Chr3:10149937

Conflicting classifications of pathogenicity

Condition: not provided
Chuvash polycythemia
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Pheochromocytoma
Nonpapillary renal cell carcinoma
Chuvash polycythemia
Von Hippel-Lindau syndrome
Von Hippel-Lindau syndrome

Criteria Provided
Conflicting Classifications

CA041951

rs_777130107

8 SubmittersRCV000481472 RCV000631259 RCV001024946 RCV000764460 RCV004787783

NM_000551.4(VHL):c.581T>G (p.Val194Gly)

SNV
Germline

Chr3:10149904

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Pheochromocytoma
Von Hippel-Lindau syndrome
Chuvash polycythemia
Nonpapillary renal cell carcinoma

Criteria Provided
Conflicting Classifications

CA351756475

rs_1131690963

4 SubmittersRCV000492180 RCV000547627 RCV005056071 RCV005398712

NM_144997.7(FLCN):c.1657T>C (p.Trp553Arg)

SNV
Germline

Chr17:17213738

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Birt-Hogg-Dube syndrome
Condition: not provided
Birt-Hogg-Dube syndrome
Familial spontaneous pneumothorax
Colorectal cancer
17p11.2 microduplication syndrome
Nonpapillary renal cell carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA398529920

rs_1131690833

4 SubmittersRCV000492176 RCV000690635 RCV001584204 RCV002496889

NM_000551.4(VHL):c.31G>C (p.Ala11Pro)

SNV
Germline

Chr3:10141878

Conflicting classifications of pathogenicity

Chuvash polycythemia
Von Hippel-Lindau syndrome
Pheochromocytoma
Nonpapillary renal cell carcinoma
Chuvash polycythemia
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome

Criteria Provided
Conflicting Classifications

CA351747101

rs_1236604706

4 SubmittersRCV000554589 RCV000764457 RCV001019152 RCV004791523

NM_000551.4(VHL):c.312C>T (p.Gly104=)

SNV
Germline

Chr3:10142159

Conflicting classifications of pathogenicity

Von Hippel-Lindau syndrome
Chuvash polycythemia
Condition: not provided
Hereditary cancer-predisposing syndrome
VHL-related disorder
Von Hippel-Lindau syndrome
Nonpapillary renal cell carcinoma
Chuvash polycythemia
Pheochromocytoma
Von Hippel-Lindau syndrome

Criteria Provided
Conflicting Classifications

CA70046276

rs_946898891

6 SubmittersRCV000539418 RCV001545850 RCV001018749 RCV003392366 RCV005034085 RCV005620961

NM_000245.4(MET):c.142G>A (p.Ala48Thr)

SNV
Germline

Chr7:116699226

Conflicting classifications of pathogenicity

Renal cell carcinoma
Hereditary cancer-predisposing syndrome
Osteofibrous dysplasia
Hepatocellular carcinoma
Papillary renal cell carcinoma type 1
Autosomal recessive nonsyndromic hearing loss 97
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 97
MET-related disorder
Papillary renal cell carcinoma type 1

Criteria Provided
Conflicting Classifications

CA4447946

rs_374050750

8 SubmittersRCV000532694 RCV000569043 RCV000764682 RCV001547448 RCV003470697 RCV004745439 RCV005248095

NM_000245.4(MET):c.341A>T (p.Asp114Val)

SNV
Germline

Chr7:116699425

Conflicting classifications of pathogenicity

Papillary renal cell carcinoma type 1
Renal cell carcinoma
Hereditary cancer-predisposing syndrome
Condition: not provided
MET-related disorder
Autosomal recessive nonsyndromic hearing loss 97

Criteria Provided
Conflicting Classifications

CA4447978

rs_773659883

6 SubmittersRCV000540846 RCV001293431 RCV002456035 RCV003151783 RCV003409759 RCV003459165

NM_000245.4(MET):c.1988C>T (p.Ser663Leu)

SNV
Germline

Chr7:116757660

Conflicting classifications of pathogenicity

Papillary renal cell carcinoma type 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Renal cell carcinoma
Ovarian cancer
Autosomal recessive nonsyndromic hearing loss 97
not specified

Criteria Provided
Conflicting Classifications

CA4448351

rs_376459715

10 SubmittersRCV000532305 RCV000592240 RCV001013919 RCV001328521 RCV003153672 RCV003459163 RCV005434994

NM_000245.4(MET):c.2684C>T (p.Thr895Met)

SNV
Germline

Chr7:116769745

Conflicting classifications of pathogenicity

Renal cell carcinoma
Hereditary cancer-predisposing syndrome
Condition: not provided
Osteofibrous dysplasia
Hepatocellular carcinoma
Papillary renal cell carcinoma type 1
Autosomal recessive nonsyndromic hearing loss 97
MET-related disorder
Papillary renal cell carcinoma type 1

Criteria Provided
Conflicting Classifications

CA4448549

rs_199502137

7 SubmittersRCV000541456 RCV001016448 RCV001591188 RCV002476079 RCV003392361 RCV003444568

NM_000245.4(MET):c.1101C>A (p.Ile367=)

SNV
Germline

Chr7:116700185

Conflicting classifications of pathogenicity

Renal cell carcinoma
Hereditary cancer-predisposing syndrome
Condition: not provided
Papillary renal cell carcinoma type 1

Criteria Provided
Conflicting Classifications

CA4448070

rs_747940150

4 SubmittersRCV000528861 RCV000561781 RCV004772952 RCV005248092

NM_000245.4(MET):c.1238G>A (p.Arg413His)

SNV
Germline

Chr7:116731705

Conflicting classifications of pathogenicity

Papillary renal cell carcinoma type 1
Hereditary cancer-predisposing syndrome
Renal cell carcinoma
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4448120

rs_375391602

4 SubmittersRCV000527361 RCV000570024 RCV001312224 RCV001576084

NM_000245.4(MET):c.2103-4T>C

SNV
Germline

Chr7:116758455

Conflicting classifications of pathogenicity

Renal cell carcinoma
Hereditary cancer-predisposing syndrome
Condition: not provided
MET-related disorder
Papillary renal cell carcinoma type 1

Criteria Provided
Conflicting Classifications

CA4448410

rs_753740913

6 SubmittersRCV000547032 RCV000562566 RCV001591187 RCV004745440 RCV005248098

NM_000245.4(MET):c.3352A>G (p.Ile1118Val)

SNV
Germline

Chr7:116778787

Conflicting classifications of pathogenicity

Papillary renal cell carcinoma type 1
Hereditary cancer-predisposing syndrome
Renal cell carcinoma
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 97

Criteria Provided
Conflicting Classifications

CA4448713

rs_755234697

6 SubmittersRCV000526482 RCV000570458 RCV001293430 RCV001775839 RCV003470699

NM_144997.7(FLCN):c.1432+8C>T

SNV
Germline

Chr17:17215177

Conflicting classifications of pathogenicity

Birt-Hogg-Dube syndrome
Birt-Hogg-Dube syndrome
Colorectal cancer
Nonpapillary renal cell carcinoma
17p11.2 microduplication syndrome
Familial spontaneous pneumothorax
Condition: not provided
Birt-Hogg-Dube syndrome 1

Criteria Provided
Conflicting Classifications

CA8416000

rs_201898226

4 SubmittersRCV000535879 RCV002506320 RCV003478136 RCV005248194

NM_144997.7(FLCN):c.604G>A (p.Gly202Ser)

SNV
Germline

Chr17:17223936

Conflicting classifications of pathogenicity

Birt-Hogg-Dube syndrome
Hereditary cancer-predisposing syndrome
Birt-Hogg-Dube syndrome
Colorectal cancer
Nonpapillary renal cell carcinoma
17p11.2 microduplication syndrome
Familial spontaneous pneumothorax
Birt-Hogg-Dube syndrome 1

Criteria Provided
Conflicting Classifications

CA8416374

rs_774491699

4 SubmittersRCV000545339 RCV000565519 RCV002476128 RCV004568773

NM_144997.7(FLCN):c.1580G>A (p.Arg527Gln)

SNV
Germline

Chr17:17213815

Conflicting classifications of pathogenicity

Birt-Hogg-Dube syndrome
Hereditary cancer-predisposing syndrome
Familial spontaneous pneumothorax
Condition: not provided
Birt-Hogg-Dube syndrome 1
Colorectal cancer
Nonpapillary renal cell carcinoma
Familial spontaneous pneumothorax
Birt-Hogg-Dube syndrome 1

Criteria Provided
Conflicting Classifications

CA8415934

rs_777826268

8 SubmittersRCV000560552 RCV000565191 RCV001121961 RCV002527743 RCV004787856 RCV005010495

NM_144997.7(FLCN):c.1373A>G (p.Gln458Arg)

SNV
Germline

Chr17:17215244

Conflicting classifications of pathogenicity

Birt-Hogg-Dube syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Colorectal cancer
Nonpapillary renal cell carcinoma
Familial spontaneous pneumothorax
Birt-Hogg-Dube syndrome 1

Criteria Provided
Conflicting Classifications

CA8416015

rs_150439088

6 SubmittersRCV000558097 RCV001011243 RCV001775852 RCV005004223

NM_144997.7(FLCN):c.1193G>C (p.Gly398Ala)

SNV
Germline

Chr17:17216487

Conflicting classifications of pathogenicity

Birt-Hogg-Dube syndrome
Hereditary cancer-predisposing syndrome
Birt-Hogg-Dube syndrome 1
Colorectal cancer
Nonpapillary renal cell carcinoma
Familial spontaneous pneumothorax
Birt-Hogg-Dube syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8416100

rs_766801011

6 SubmittersRCV000530248 RCV002350218 RCV004787855 RCV005004222 RCV005000150

NM_144997.7(FLCN):c.1160C>T (p.Ala387Val)

SNV
Germline

Chr17:17217085

Conflicting classifications of pathogenicity

Birt-Hogg-Dube syndrome
Hereditary cancer-predisposing syndrome
Colorectal cancer
Nonpapillary renal cell carcinoma
Familial spontaneous pneumothorax
Birt-Hogg-Dube syndrome 1

Criteria Provided
Conflicting Classifications

CA398532150

rs_1431737113

4 SubmittersRCV000541483 RCV001010029 RCV005010494

NM_144997.7(FLCN):c.498C>G (p.Phe166Leu)

SNV
Germline

Chr17:17224042

Conflicting classifications of pathogenicity

Birt-Hogg-Dube syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Birt-Hogg-Dube syndrome
Colorectal cancer
Nonpapillary renal cell carcinoma
17p11.2 microduplication syndrome
Familial spontaneous pneumothorax

Criteria Provided
Conflicting Classifications

CA288317129

rs_1040675580

5 SubmittersRCV000553117 RCV001023371 RCV001574889 RCV002483392

NM_144997.7(FLCN):c.1133G>A (p.Ser378Asn)

SNV
Germline

Chr17:17217112

Conflicting classifications of pathogenicity

Birt-Hogg-Dube syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Ovarian cancer
Birt-Hogg-Dube syndrome 1
Colorectal cancer
Nonpapillary renal cell carcinoma
Familial spontaneous pneumothorax
Birt-Hogg-Dube syndrome 1

Criteria Provided
Conflicting Classifications

CA8416136

rs_769489773

7 SubmittersRCV000542554 RCV000568232 RCV002293449 RCV003153696 RCV004787854 RCV005018920

NM_144997.7(FLCN):c.634C>A (p.Gln212Lys)

SNV
Germline

Chr17:17222646

Conflicting classifications of pathogenicity

Birt-Hogg-Dube syndrome
Hereditary cancer-predisposing syndrome
Birt-Hogg-Dube syndrome
Colorectal cancer
Nonpapillary renal cell carcinoma
17p11.2 microduplication syndrome
Familial spontaneous pneumothorax
Condition: not provided
Birt-Hogg-Dube syndrome 1

Criteria Provided
Conflicting Classifications

CA8416347

rs_558699420

7 SubmittersRCV000527374 RCV001025165 RCV002490994 RCV003126810 RCV004787857

NM_144997.7(FLCN):c.451G>A (p.Val151Met)

SNV
Germline

Chr17:17224089

Conflicting classifications of pathogenicity

Birt-Hogg-Dube syndrome
Condition: not provided
Nonpapillary renal cell carcinoma
Carcinoma of colon
17p11.2 microduplication syndrome
Birt-Hogg-Dube syndrome
Familial spontaneous pneumothorax
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA8416395

rs_147164515

7 SubmittersRCV000532463 RCV000658774 RCV000765334 RCV001022629

NM_144997.7(FLCN):c.396+6C>T

SNV
Germline

Chr17:17226170

Conflicting classifications of pathogenicity

Birt-Hogg-Dube syndrome
Birt-Hogg-Dube syndrome
Colorectal cancer
Nonpapillary renal cell carcinoma
17p11.2 microduplication syndrome
Familial spontaneous pneumothorax
Birt-Hogg-Dube syndrome 1

Criteria Provided
Conflicting Classifications

CA8416444

rs_747922795

3 SubmittersRCV000538911 RCV002483391 RCV004023834

NM_000551.4(VHL):c.508G>A (p.Val170Ile)

SNV
Germline

Chr3:10149831

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Nonpapillary renal cell carcinoma
Chuvash polycythemia
Pheochromocytoma
Chuvash polycythemia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA351756194

rs_1553620326

7 SubmittersRCV000569840 RCV001210329 RCV002483543 RCV004568224 RCV003322793

NM_000245.4(MET):c.1099A>G (p.Ile367Val)

SNV
Germline

Chr7:116700183

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Renal cell carcinoma
Condition: not provided
Papillary renal cell carcinoma type 1

Criteria Provided
Conflicting Classifications

CA4448069

rs_774146015

6 SubmittersRCV000574339 RCV000628727 RCV002509445 RCV001788290

NM_000245.4(MET):c.1125C>G (p.Asn375Lys)

SNV
Germline

Chr7:116700209

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Papillary renal cell carcinoma type 1
Renal cell carcinoma
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4448074

rs_776693512

4 SubmittersRCV000564467 RCV000709031 RCV001293434 RCV003317290

NM_000245.4(MET):c.2887+5A>T

SNV
Germline

Chr7:116771659

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Papillary renal cell carcinoma type 1
Renal cell carcinoma
not specified

Criteria Provided
Conflicting Classifications

CA4448594

rs_752292538

4 SubmittersRCV000569128 RCV000987954 RCV001320954 RCV004596283

NM_000245.4(MET):c.2496T>C (p.Asp832=)

SNV
Germline

Chr7:116763181

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Renal cell carcinoma
Condition: not provided
Papillary renal cell carcinoma type 1

Criteria Provided
Conflicting Classifications

CA4448495

rs_769035394

4 SubmittersRCV000567708 RCV000875618 RCV005000313 RCV005248318

NM_000245.4(MET):c.1702-3T>C

SNV
Germline

Chr7:116755352

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Renal cell carcinoma
Papillary renal cell carcinoma type 1

Criteria Provided
Conflicting Classifications

CA4448273

rs_754686930

3 SubmittersRCV000567728 RCV000703238 RCV005248321

NM_000245.4(MET):c.4090C>T (p.Pro1364Ser)

SNV
Germline

Chr7:116796041

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Renal cell carcinoma
Condition: not provided
Papillary renal cell carcinoma type 1
Autosomal recessive nonsyndromic hearing loss 97
Hepatocellular carcinoma
Osteofibrous dysplasia

Criteria Provided
Conflicting Classifications

CA4448826

rs_765332671

4 SubmittersRCV000572542 RCV000704365 RCV001775899 RCV002491137

NM_000245.4(MET):c.803C>T (p.Thr268Ile)

SNV
Germline

Chr7:116699887

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Papillary renal cell carcinoma type 1
Renal cell carcinoma
Osteofibrous dysplasia
Hepatocellular carcinoma
Arthrogryposis, distal, IIa 11
Autosomal recessive nonsyndromic hearing loss 97
Papillary renal cell carcinoma type 1

Criteria Provided
Conflicting Classifications

CA4448031

rs_757427533

4 SubmittersRCV000572749 RCV000628723 RCV001293446 RCV005034131

NM_000245.4(MET):c.818C>A (p.Thr273Asn)

SNV
Germline

Chr7:116699902

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Renal cell carcinoma
Papillary renal cell carcinoma type 1
Autosomal recessive nonsyndromic hearing loss 97
Hepatocellular carcinoma
Osteofibrous dysplasia
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 97

Criteria Provided
Conflicting Classifications

CA4448034

rs_368144654

5 SubmittersRCV000564380 RCV000628765 RCV002483539 RCV003237941 RCV003465263

NM_000245.4(MET):c.2547G>C (p.Met849Ile)

SNV
Germline

Chr7:116763232

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Renal cell carcinoma
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 97
Hereditary papillary renal cell carcinoma

Criteria Provided
Conflicting Classifications

CA4448500

rs_747989932

5 SubmittersRCV000575287 RCV001204046 RCV002286760 RCV003465262 RCV005601010

NM_144997.7(FLCN):c.955G>C (p.Gly319Arg)

SNV
Germline

Chr17:17219126

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Birt-Hogg-Dube syndrome
Condition: not provided
Nonpapillary renal cell carcinoma
Colorectal cancer
Familial spontaneous pneumothorax
Birt-Hogg-Dube syndrome 1
Birt-Hogg-Dube syndrome 1

Criteria Provided
Conflicting Classifications

CA8416188

rs_753491072

6 SubmittersRCV000562286 RCV000687129 RCV003478284 RCV005018991 RCV005248298

NM_144997.7(FLCN):c.673G>A (p.Ala225Thr)

SNV
Germline

Chr17:17222607

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Birt-Hogg-Dube syndrome
Birt-Hogg-Dube syndrome
Colorectal cancer
Nonpapillary renal cell carcinoma
17p11.2 microduplication syndrome
Familial spontaneous pneumothorax

Criteria Provided
Conflicting Classifications

CA8416341

rs_769250170

3 SubmittersRCV000560997 RCV001059272 RCV002491135

NM_144997.7(FLCN):c.134C>T (p.Ala45Val)

SNV
Germline

Chr17:17228004

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Birt-Hogg-Dube syndrome
Birt-Hogg-Dube syndrome
17p11.2 microduplication syndrome
Colorectal cancer
Familial spontaneous pneumothorax
Nonpapillary renal cell carcinoma
Birt-Hogg-Dube syndrome 1

Criteria Provided
Conflicting Classifications

CA8416512

rs_556510460

8 SubmittersRCV000564102 RCV001171925 RCV001246934 RCV002483538 RCV004791597

NM_144997.7(FLCN):c.1637A>G (p.Asn546Ser)

SNV
Germline

Chr17:17213758

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Birt-Hogg-Dube syndrome
not specified
Condition: not provided
Birt-Hogg-Dube syndrome 1
Nonpapillary renal cell carcinoma
Colorectal cancer
Familial spontaneous pneumothorax
Birt-Hogg-Dube syndrome 1

Criteria Provided
Conflicting Classifications

CA8415923

rs_775149348

7 SubmittersRCV000570961 RCV000635566 RCV002268200 RCV002461370 RCV005248297 RCV005004254

NM_144997.7(FLCN):c.1285C>T (p.His429Tyr)

SNV
Germline

Chr17:17216395

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Birt-Hogg-Dube syndrome
Condition: not provided
Birt-Hogg-Dube syndrome
Colorectal cancer
Nonpapillary renal cell carcinoma
17p11.2 microduplication syndrome
Familial spontaneous pneumothorax
Birt-Hogg-Dube syndrome 1

Criteria Provided
Conflicting Classifications

CA8416073

rs_375082054

5 SubmittersRCV000567009 RCV000812782 RCV001755958 RCV002497214 RCV005248306

NM_144997.7(FLCN):c.707A>G (p.Asn236Ser)

SNV
Germline

Chr17:17222573

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Birt-Hogg-Dube syndrome
Birt-Hogg-Dube syndrome 1
Birt-Hogg-Dube syndrome
Colorectal cancer
Nonpapillary renal cell carcinoma
17p11.2 microduplication syndrome
Familial spontaneous pneumothorax

Criteria Provided
Conflicting Classifications

CA398533958

rs_1194767470

4 SubmittersRCV000570714 RCV000692706 RCV004569267 RCV002491136

NM_144997.7(FLCN):c.278C>T (p.Pro93Leu)

SNV
Germline

Chr17:17226294

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Birt-Hogg-Dube syndrome
Condition: not provided
Nonpapillary renal cell carcinoma
Colorectal cancer
Familial spontaneous pneumothorax
Birt-Hogg-Dube syndrome 1
Birt-Hogg-Dube syndrome 1

Criteria Provided
Conflicting Classifications

CA8416459

rs_766548696

7 SubmittersRCV000566388 RCV000691012 RCV001564751 RCV005010549 RCV004569264

NM_144997.7(FLCN):c.1084C>T (p.Arg362Cys)

SNV
Germline

Chr17:17217161

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Birt-Hogg-Dube syndrome
Familial spontaneous pneumothorax
not specified
Condition: not provided
FLCN-related disorder
Nonpapillary renal cell carcinoma
Colorectal cancer
Familial spontaneous pneumothorax
Birt-Hogg-Dube syndrome 1

Criteria Provided
Conflicting Classifications

CA8416141

rs_557336321

9 SubmittersRCV000564803 RCV000691604 RCV001127833 RCV003321681 RCV003478283 RCV003409849 RCV005004253

NM_144997.7(FLCN):c.779+5C>T

SNV
Germline

Chr17:17222496

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Birt-Hogg-Dube syndrome
Birt-Hogg-Dube syndrome
Colorectal cancer
Nonpapillary renal cell carcinoma
17p11.2 microduplication syndrome
Familial spontaneous pneumothorax

Criteria Provided
Conflicting Classifications

CA8416320

rs_745645385

4 SubmittersRCV000561400 RCV000635571 RCV002506383

NM_144997.7(FLCN):c.346C>A (p.Gln116Lys)

SNV
Germline

Chr17:17226226

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Birt-Hogg-Dube syndrome
FLCN-related disorder
Nonpapillary renal cell carcinoma
Birt-Hogg-Dube syndrome 1
Familial spontaneous pneumothorax
Colorectal cancer
Condition: not provided
Birt-Hogg-Dube syndrome 1

Criteria Provided
Conflicting Classifications

CA8416449

rs_398124536

10 SubmittersRCV000563415 RCV003321682 RCV000635549 RCV003945353 RCV005010550 RCV003237940 RCV005248301

NM_000551.4(VHL):c.-10C>T

SNV
Germline

Chr3:10141838

Conflicting classifications of pathogenicity

not specified
Von Hippel-Lindau syndrome
Nonpapillary renal cell carcinoma
Pheochromocytoma
Chuvash polycythemia
Von Hippel-Lindau syndrome

Criteria Provided
Conflicting Classifications

CA541213514

rs_1192379474

3 SubmittersRCV000609650 RCV002498924 RCV004802290

NM_000551.4(VHL):c.298A>G (p.Thr100Ala)

SNV
Germline

Chr3:10142145

Conflicting classifications of pathogenicity

Von Hippel-Lindau syndrome
Chuvash polycythemia
Condition: not provided
Hereditary cancer-predisposing syndrome
Nonpapillary renal cell carcinoma
Von Hippel-Lindau syndrome
Chuvash polycythemia
Pheochromocytoma
Von Hippel-Lindau syndrome

Criteria Provided
Conflicting Classifications

CA040192

rs_745901803

8 SubmittersRCV000631270 RCV000997987 RCV002255483 RCV002477380 RCV004788047

NM_000245.4(MET):c.306C>G (p.Ser102Arg)

SNV
Germline

Chr7:116699390

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Renal cell carcinoma
Osteofibrous dysplasia
Arthrogryposis, distal, IIa 11
Autosomal recessive nonsyndromic hearing loss 97
Papillary renal cell carcinoma type 1
Hepatocellular carcinoma

Criteria Provided
Conflicting Classifications

CA4447973

rs_749383450

3 SubmittersRCV001018441 RCV002233914 RCV005034203

NM_000245.4(MET):c.850A>G (p.Ile284Val)

SNV
Germline

Chr7:116699934

Conflicting classifications of pathogenicity

Papillary renal cell carcinoma type 1
Renal cell carcinoma
Condition: not provided
Hereditary cancer-predisposing syndrome
Osteofibrous dysplasia
Arthrogryposis, distal, IIa 11
Autosomal recessive nonsyndromic hearing loss 97
Papillary renal cell carcinoma type 1
Hepatocellular carcinoma

Criteria Provided
Conflicting Classifications

CA4448040

rs_776014448

5 SubmittersRCV000628763 RCV001312226 RCV005000399 RCV002448925 RCV005034202

NM_000245.4(MET):c.4016C>T (p.Ala1339Val)

SNV
Germline

Chr7:116795967

Conflicting classifications of pathogenicity

Renal cell carcinoma
Condition: not provided
Hereditary cancer-predisposing syndrome
Papillary renal cell carcinoma type 1
Autosomal recessive nonsyndromic hearing loss 97

Criteria Provided
Conflicting Classifications

CA369118216

rs_1453842331

6 SubmittersRCV000628762 RCV003232061 RCV001021803 RCV003153770 RCV003459488

NM_000245.4(MET):c.1306G>A (p.Glu436Lys)

SNV
Germline

Chr7:116731773

Conflicting classifications of pathogenicity

Papillary renal cell carcinoma type 1
Hereditary cancer-predisposing syndrome
Renal cell carcinoma

Criteria Provided
Conflicting Classifications

CA368972893

rs_200740468

3 SubmittersRCV000628755 RCV001010899 RCV001312217

NM_000245.4(MET):c.1862C>T (p.Thr621Ile)

SNV
Germline

Chr7:116755515

Conflicting classifications of pathogenicity

Condition: not provided
Renal cell carcinoma
Hereditary cancer-predisposing syndrome
Osteofibrous dysplasia
Autosomal recessive nonsyndromic hearing loss 97
Papillary renal cell carcinoma type 1
Hepatocellular carcinoma
not specified

Criteria Provided
Conflicting Classifications

CA4448286

rs_375951814

7 SubmittersRCV001756034 RCV000628759 RCV001013433 RCV002483765 RCV004596305

NM_000245.4(MET):c.2375A>G (p.His792Arg)

SNV
Germline

Chr7:116763060

Conflicting classifications of pathogenicity

Renal cell carcinoma
Hereditary cancer-predisposing syndrome
Osteofibrous dysplasia
Autosomal recessive nonsyndromic hearing loss 97
Papillary renal cell carcinoma type 1
Hepatocellular carcinoma

Criteria Provided
Conflicting Classifications

CA164897661

rs_980467681

3 SubmittersRCV000628747 RCV001015499 RCV002477372

NM_000245.4(MET):c.2073A>G (p.Ser691=)

SNV
Germline

Chr7:116757745

Conflicting classifications of pathogenicity

Renal cell carcinoma
Hereditary cancer-predisposing syndrome
Condition: not provided
Papillary renal cell carcinoma type 1

Criteria Provided
Conflicting Classifications

CA4448369

rs_765318603

4 SubmittersRCV002232780 RCV003162780 RCV005000400 RCV005248455

NM_000245.4(MET):c.4034T>C (p.Ile1345Thr)

SNV
Germline

Chr7:116795985

Conflicting classifications of pathogenicity

Renal cell carcinoma
Condition: not provided
Osteofibrous dysplasia
Autosomal recessive nonsyndromic hearing loss 97
Papillary renal cell carcinoma type 1
Hepatocellular carcinoma
Hereditary cancer-predisposing syndrome
not specified
Autosomal recessive nonsyndromic hearing loss 97
MET-related disorder

Criteria Provided
Conflicting Classifications

CA4448820

rs_768188910

7 SubmittersRCV000628769 RCV001766335 RCV000765921 RCV001021839 RCV002268220 RCV003459489 RCV004745512

NM_144997.7(FLCN):c.175C>T (p.Arg59Cys)

SNV
Germline

Chr17:17227963

Conflicting classifications of pathogenicity

Birt-Hogg-Dube syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Nonpapillary renal cell carcinoma
Birt-Hogg-Dube syndrome 1
Colorectal cancer
Familial spontaneous pneumothorax
FLCN-related disorder
Birt-Hogg-Dube syndrome 1

Criteria Provided
Conflicting Classifications

CA8416508

rs_778275358

8 SubmittersRCV000635534 RCV001012999 RCV003223660 RCV005004290 RCV004745521 RCV004788052

NM_144997.7(FLCN):c.952G>A (p.Glu318Lys)

SNV
Germline

Chr17:17219129

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Birt-Hogg-Dube syndrome
Condition: not provided
Birt-Hogg-Dube syndrome 1
Nonpapillary renal cell carcinoma
Birt-Hogg-Dube syndrome 1
Colorectal cancer
Familial spontaneous pneumothorax

Criteria Provided
Conflicting Classifications

CA8416189

rs_756787389

5 SubmittersRCV001019466 RCV000635565 RCV003238793 RCV004788054 RCV005004291

NM_000551.4(VHL):c.-73C>T

SNV
Germline

Chr3:10141775

Conflicting classifications of pathogenicity

Chuvash polycythemia
Von Hippel-Lindau syndrome
Pheochromocytoma
Nonpapillary renal cell carcinoma
Von Hippel-Lindau syndrome
not specified

Criteria Provided
Conflicting Classifications

CA70041962

rs_1034934219

5 SubmittersRCV000764456 RCV001148529 RCV001796976

NM_000245.4(MET):c.2674G>A (p.Val892Ile)

SNV
Germline

Chr7:116769735

Conflicting classifications of pathogenicity

Renal cell carcinoma
Hereditary cancer-predisposing syndrome
Condition: not provided
Papillary renal cell carcinoma type 1
Autosomal recessive nonsyndromic hearing loss 97

Criteria Provided
Conflicting Classifications

CA4448547

rs_761243391

5 SubmittersRCV000688057 RCV001016409 RCV001766471 RCV002291687 RCV003465564

NM_000245.4(MET):c.762A>C (p.Glu254Asp)

SNV
Germline

Chr7:116699846

Conflicting classifications of pathogenicity

Renal cell carcinoma
Hepatocellular carcinoma
Autosomal recessive nonsyndromic hearing loss 97
Osteofibrous dysplasia
Papillary renal cell carcinoma type 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 97
Papillary renal cell carcinoma type 1
MET-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA4448024

rs_760278126

10 SubmittersRCV000688808 RCV000765915 RCV001026638 RCV001797126 RCV003465566 RCV002291688 RCV003953235 RCV005231270

NM_000245.4(MET):c.2554A>G (p.Met852Val)

SNV
Germline

Chr7:116763239

Conflicting classifications of pathogenicity

Renal cell carcinoma
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary papillary renal cell carcinoma

Criteria Provided
Conflicting Classifications

CA4448502

rs_762863861

4 SubmittersRCV000706073 RCV001592908 RCV002440541 RCV005601084

NM_144997.7(FLCN):c.86T>C (p.Leu29Pro)

SNV
Germline

Chr17:17228052

Conflicting classifications of pathogenicity

Birt-Hogg-Dube syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Nonpapillary renal cell carcinoma
17p11.2 microduplication syndrome
Familial spontaneous pneumothorax
Birt-Hogg-Dube syndrome
Colorectal cancer
Birt-Hogg-Dube syndrome 1

Criteria Provided
Conflicting Classifications

CA8416519

rs_150051278

5 SubmittersRCV000687044 RCV002369833 RCV001556472 RCV002485606 RCV004788117

NM_144997.7(FLCN):c.1382G>A (p.Ser461Asn)

SNV
Germline

Chr17:17215235

Conflicting classifications of pathogenicity

Birt-Hogg-Dube syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Colorectal cancer
Familial spontaneous pneumothorax
Nonpapillary renal cell carcinoma
Birt-Hogg-Dube syndrome 1

Criteria Provided
Conflicting Classifications

CA398531270

rs_1397579538

4 SubmittersRCV000692977 RCV003163163 RCV004997166 RCV005010692

NM_000245.4(MET):c.215T>C (p.Val72Ala)

SNV
Germline

Chr7:116699299

Conflicting classifications of pathogenicity

Papillary renal cell carcinoma type 1
Hereditary cancer-predisposing syndrome
Renal cell carcinoma
Autosomal recessive nonsyndromic hearing loss 97

Criteria Provided
Conflicting Classifications

CA164887979

rs_973796037

4 SubmittersRCV000709025 RCV001014489 RCV001358790 RCV003465645

NM_000245.4(MET):c.569A>G (p.Asp190Gly)

SNV
Germline

Chr7:116699653

Conflicting classifications of pathogenicity

Papillary renal cell carcinoma type 1
Renal cell carcinoma
Papillary renal cell carcinoma type 1
Hepatocellular carcinoma
Arthrogryposis, distal, IIa 11
Osteofibrous dysplasia
Autosomal recessive nonsyndromic hearing loss 97
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA164888564

rs_1028165414

4 SubmittersRCV000709028 RCV001339744 RCV005034330 RCV002343581

NM_000245.4(MET):c.925A>C (p.Thr309Pro)

SNV
Germline

Chr7:116700009

Conflicting classifications of pathogenicity

Papillary renal cell carcinoma type 1
Renal cell carcinoma
Hereditary cancer-predisposing syndrome
Autosomal recessive nonsyndromic hearing loss 97

Criteria Provided
Conflicting Classifications

CA164889217

rs_35601148

4 SubmittersRCV000709030 RCV001293443 RCV002369977 RCV004569399

NM_000245.4(MET):c.1496A>G (p.Asn499Ser)

SNV
Germline

Chr7:116740053

Conflicting classifications of pathogenicity

Papillary renal cell carcinoma type 1
Renal cell carcinoma
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA368974257

rs_1253878709

3 SubmittersRCV000709032 RCV001312214 RCV004026761

NM_000245.4(MET):c.1640G>A (p.Arg547Gln)

SNV
Germline

Chr7:116740964

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Renal cell carcinoma
Hereditary cancer
Condition: not provided
Papillary renal cell carcinoma type 1
Hepatocellular carcinoma
Arthrogryposis, distal, IIa 11
Osteofibrous dysplasia
Autosomal recessive nonsyndromic hearing loss 97

Criteria Provided
Conflicting Classifications

CA4448214

rs_761951444

8 SubmittersRCV001012533 RCV001328501 RCV003492139 RCV003238200 RCV005034331

NM_000245.4(MET):c.2584-3C>T

SNV
Germline

Chr7:116769642

Conflicting classifications of pathogenicity

Papillary renal cell carcinoma type 1
Renal cell carcinoma

Criteria Provided
Conflicting Classifications

CA577680501

rs_1337305891

2 SubmittersRCV000709037 RCV003762862

NM_000458.4(HNF1B):c.544C>T (p.Gln182Ter)

SNV
Germline

Chr17:37739440

Pathogenic

Renal cysts and diabetes syndrome
Condition: not provided
Maturity onset diabetes mellitus in young
Nonpapillary renal cell carcinoma
Type 2 diabetes mellitus
Renal cysts and diabetes syndrome
Type 2 diabetes mellitus
HNF1B-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA398751000

rs_1568670481

11 SubmittersRCV001281137 RCV000713802 RCV002343589 RCV002499296 RCV003227842 RCV004753005

NM_000458.4(HNF1B):c.1654-9T>A

SNV
Germline

Chr17:37687401

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Maturity onset diabetes mellitus in young
Type 2 diabetes mellitus
Nonpapillary renal cell carcinoma
Renal cysts and diabetes syndrome

Criteria Provided
Conflicting Classifications

CA8518766

rs_200579660

6 SubmittersRCV000729098 RCV001816796 RCV002464300 RCV005021128

NM_000458.4(HNF1B):c.780G>C (p.Glu260Asp)

SNV
Germline

Chr17:37733586

Conflicting classifications of pathogenicity

Condition: not provided
Renal cysts and diabetes syndrome
HNF1B-related disorder
not specified
Maturity onset diabetes mellitus in young
Nonpapillary renal cell carcinoma
Renal cysts and diabetes syndrome
Type 2 diabetes mellitus

Criteria Provided
Conflicting Classifications

CA8519011

rs_536638039

8 SubmittersRCV000734628 RCV000787147 RCV003424324 RCV001288507 RCV004027087 RCV005010747

NM_000458.4(HNF1B):c.1024T>C (p.Ser342Pro)

SNV
Germline

Chr17:37731616

Conflicting classifications of pathogenicity

Renal cysts and diabetes syndrome
not specified
Congenital anomaly of kidney and urinary tract
Nonpapillary renal cell carcinoma
Type 2 diabetes mellitus
Renal cysts and diabetes syndrome

Criteria Provided
Conflicting Classifications

CA398745993

rs_1282596664

5 SubmittersRCV000787100 RCV003994116 RCV001254704 RCV005012308

NM_000458.4(HNF1B):c.865A>G (p.Asn289Asp)

SNV
Germline

Chr17:37731775

Pathogenic/Likely pathogenic

Renal cysts and diabetes syndrome
Type 2 diabetes mellitus
Renal cysts and diabetes syndrome
Nonpapillary renal cell carcinoma
Hyperechogenic kidneys

Criteria Provided
Multiple Submitters
No Conflicts

CA398746927

rs_2511801868

3 SubmittersRCV000787125 RCV002493434 RCV003106062

NM_000458.4(HNF1B):c.827G>A (p.Arg276Gln)

SNV
Germline

Chr17:37731813

Pathogenic/Likely pathogenic

Renal cysts and diabetes syndrome
Condition: not provided
Nonpapillary renal cell carcinoma
Renal cysts and diabetes syndrome
Type 2 diabetes mellitus

Criteria Provided
Multiple Submitters
No Conflicts

CA398747064

rs_2511802259

7 SubmittersRCV000787134 RCV002535749 RCV005021177

NM_000458.4(HNF1B):c.542G>A (p.Arg181Gln)

SNV
Germline

Chr17:37739442

Conflicting classifications of pathogenicity

Condition: not provided
Renal cysts and diabetes syndrome
Type 2 diabetes mellitus
Renal cysts and diabetes syndrome
Nonpapillary renal cell carcinoma

Criteria Provided
Conflicting Classifications

CA8519066

rs_776195231

3 SubmittersRCV001869185 RCV000787174 RCV005021178

NM_000458.4(HNF1B):c.443C>T (p.Ser148Leu)

SNV
Germline

Chr17:37739541

Pathogenic/Likely pathogenic

Renal cysts and diabetes syndrome
Congenital anomaly of kidney and urinary tract
Condition: not provided
Renal cysts and diabetes syndrome
Type 2 diabetes mellitus
Nonpapillary renal cell carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA398751429

rs_121918674

9 SubmittersRCV001281300 RCV001328307 RCV001785725 RCV002501024

NM_000458.4(HNF1B):c.232G>T (p.Glu78Ter)

SNV
Germline

Chr17:37744653

Pathogenic

Renal cysts and diabetes syndrome
Type 2 diabetes mellitus
Renal cysts and diabetes syndrome
Nonpapillary renal cell carcinoma
Type 2 diabetes mellitus

Criteria Provided
Multiple Submitters
No Conflicts

CA398753654

rs_2511850923

3 SubmittersRCV000787244 RCV002501025 RCV001029833

NM_000458.4(HNF1B):c.107C>T (p.Ser36Phe)

SNV
Germline

Chr17:37744778

Conflicting classifications of pathogenicity

Renal cysts and diabetes syndrome
Maturity onset diabetes mellitus in young
Condition: not provided
Nonpapillary renal cell carcinoma
Renal cysts and diabetes syndrome
Type 2 diabetes mellitus
not specified

Criteria Provided
Conflicting Classifications

CA8519156

rs_544890850

5 SubmittersRCV000787256 RCV001248883 RCV002535751 RCV002487621 RCV005056548

NM_000458.4(HNF1B):c.34C>T (p.Leu12Phe)

SNV
Germline

Chr17:37744851

Conflicting classifications of pathogenicity

Renal cysts and diabetes syndrome
Condition: not provided
HNF1B-related disorder
Maturity onset diabetes mellitus in young
Nonpapillary renal cell carcinoma
Renal cysts and diabetes syndrome
Type 2 diabetes mellitus

Criteria Provided
Conflicting Classifications

CA398755124

rs_1285239018

6 SubmittersRCV000787259 RCV002259370 RCV003413581 RCV004629324 RCV005021179

NM_000458.4(HNF1B):c.809+1G>A

SNV
Germline

Chr17:37733556

Pathogenic/Likely pathogenic

Renal cysts and diabetes syndrome
Condition: not provided
Type 2 diabetes mellitus
Renal cysts and diabetes syndrome
Nonpapillary renal cell carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA398747844

rs_1555830002

3 SubmittersRCV000787142 RCV003546602 RCV002487620

NM_000245.4(MET):c.800A>G (p.Glu267Gly)

SNV
Germline

Chr7:116699884

Conflicting classifications of pathogenicity

Renal cell carcinoma
Hereditary cancer-predisposing syndrome
Papillary renal cell carcinoma type 1
Hepatocellular carcinoma
Arthrogryposis, distal, IIa 11
Autosomal recessive nonsyndromic hearing loss 97
Osteofibrous dysplasia

Criteria Provided
Conflicting Classifications

CA4448030

rs_751564290

3 SubmittersRCV002234741 RCV002422742 RCV005036166

NM_000245.4(MET):c.1414C>T (p.Pro472Ser)

SNV
Germline

Chr7:116739971

Conflicting classifications of pathogenicity

Renal cell carcinoma
Hereditary cancer-predisposing syndrome
Condition: not provided
Papillary renal cell carcinoma type 1
Arthrogryposis, distal, IIa 11
Hepatocellular carcinoma
Autosomal recessive nonsyndromic hearing loss 97
Osteofibrous dysplasia

Criteria Provided
Conflicting Classifications

CA4448162

rs_376589619

4 SubmittersRCV000823670 RCV002390710 RCV004792541 RCV005036229

NM_000245.4(MET):c.1973T>C (p.Val658Ala)

SNV
Germline

Chr7:116757645

Conflicting classifications of pathogenicity

Papillary renal cell carcinoma type 1
Renal cell carcinoma

Criteria Provided
Conflicting Classifications

CA368979606

rs_1584941533

2 SubmittersRCV000818405 RCV001358785

NM_000245.4(MET):c.3091A>G (p.Met1031Val)

SNV
Germline

Chr7:116774943

Conflicting classifications of pathogenicity

Papillary renal cell carcinoma type 1
Intellectual disability
Renal cell carcinoma
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4448648

rs_45564937

5 SubmittersRCV000815970 RCV001252072 RCV001328511 RCV001018806 RCV003222143

NM_000245.4(MET):c.4118A>G (p.Asp1373Gly)

SNV
Germline

Chr7:116796069

Conflicting classifications of pathogenicity

Renal cell carcinoma
Papillary renal cell carcinoma type 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Papillary renal cell carcinoma type 1
Arthrogryposis, distal, IIa 11
Hepatocellular carcinoma
Autosomal recessive nonsyndromic hearing loss 97
Osteofibrous dysplasia

Criteria Provided
Conflicting Classifications

CA4448832

rs_773898036

5 SubmittersRCV000823281 RCV002254714 RCV002332721 RCV002464330 RCV005036228

NM_144997.7(FLCN):c.1363G>A (p.Glu455Lys)

SNV
Germline

Chr17:17215254

Conflicting classifications of pathogenicity

Birt-Hogg-Dube syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Birt-Hogg-Dube syndrome 1
FLCN-related disorder
Birt-Hogg-Dube syndrome
Familial spontaneous pneumothorax
Nonpapillary renal cell carcinoma
Colorectal cancer
17p11.2 microduplication syndrome

Criteria Provided
Conflicting Classifications

CA8416017

rs_759637055

7 SubmittersRCV000802282 RCV002259371 RCV002386430 RCV004569584 RCV003908098 RCV002477837

NM_144997.7(FLCN):c.1337G>A (p.Arg446His)

SNV
Germline

Chr17:17215280

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Birt-Hogg-Dube syndrome
Condition: not provided
Birt-Hogg-Dube syndrome
Familial spontaneous pneumothorax
Nonpapillary renal cell carcinoma
Colorectal cancer
17p11.2 microduplication syndrome

Criteria Provided
Conflicting Classifications

CA8416025

rs_750104212

4 SubmittersRCV001010835 RCV000809356 RCV002307624 RCV002501096

NM_144997.7(FLCN):c.1102G>A (p.Val368Ile)

SNV
Germline

Chr17:17217143

Conflicting classifications of pathogenicity

Birt-Hogg-Dube syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
FLCN-related disorder
Colorectal cancer
Nonpapillary renal cell carcinoma
Birt-Hogg-Dube syndrome 1
Familial spontaneous pneumothorax

Criteria Provided
Conflicting Classifications

CA8416139

rs_767714543

8 SubmittersRCV000808219 RCV001017316 RCV003313151 RCV003413621 RCV005021224

NM_144997.7(FLCN):c.802C>T (p.Arg268Trp)

SNV
Germline

Chr17:17221606

Conflicting classifications of pathogenicity

Birt-Hogg-Dube syndrome
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Nonpapillary renal cell carcinoma
Birt-Hogg-Dube syndrome
Familial spontaneous pneumothorax
Colorectal cancer
17p11.2 microduplication syndrome
FLCN-related disorder
Birt-Hogg-Dube syndrome 1

Criteria Provided
Conflicting Classifications

CA8416287

rs_762370059

8 SubmittersRCV000819183 RCV001027085 RCV002268311 RCV001824384 RCV002507435 RCV003892754 RCV005249095

NM_144997.7(FLCN):c.190G>A (p.Ala64Thr)

SNV
Germline

Chr17:17227948

Conflicting classifications of pathogenicity

Birt-Hogg-Dube syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial spontaneous pneumothorax
Nonpapillary renal cell carcinoma
Birt-Hogg-Dube syndrome 1
Colorectal cancer
Birt-Hogg-Dube syndrome 1

Criteria Provided
Conflicting Classifications

CA8416502

rs_778587763

5 SubmittersRCV000805647 RCV003166248 RCV003144627 RCV005012334 RCV004789206

NM_144997.7(FLCN):c.99T>A (p.Asp33Glu)

SNV
Germline

Chr17:17228039

Conflicting classifications of pathogenicity

Birt-Hogg-Dube syndrome
Hereditary cancer-predisposing syndrome
Familial spontaneous pneumothorax
Birt-Hogg-Dube syndrome 1
Nonpapillary renal cell carcinoma
Colorectal cancer
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8416515

rs_375348725

4 SubmittersRCV000816744 RCV001019971 RCV005012365 RCV004723233

NM_144997.7(FLCN):c.1432+3G>T

SNV
Germline

Chr17:17215182

Conflicting classifications of pathogenicity

Birt-Hogg-Dube syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial spontaneous pneumothorax
Nonpapillary renal cell carcinoma
Birt-Hogg-Dube syndrome 1
Colorectal cancer

Criteria Provided
Conflicting Classifications

CA8416002

rs_752730139

4 SubmittersRCV000821798 RCV001011551 RCV004997386 RCV005021254

NM_000245.4(MET):c.546C>A (p.Ala182=)

SNV
Germline

Chr7:116699630

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Renal cell carcinoma
Papillary renal cell carcinoma type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4448004

rs_570036369

4 SubmittersRCV001024151 RCV000867801 RCV005249179 RCV002282390

NM_000245.4(MET):c.2118T>C (p.Ile706=)

SNV
Germline

Chr7:116758474

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Renal cell carcinoma
Papillary renal cell carcinoma type 1

Criteria Provided
Conflicting Classifications

CA164894222

rs_958023403

4 SubmittersRCV002416045 RCV002539072 RCV000870309 RCV005249205

NM_000245.4(MET):c.600C>G (p.Thr200=)

SNV
Germline

Chr7:116699684

Conflicting classifications of pathogenicity

Papillary renal cell carcinoma type 1
Renal cell carcinoma
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA457447791

rs_1225303075

5 SubmittersRCV000871402 RCV001420969 RCV001585834 RCV002352580

NM_000245.4(MET):c.1719A>G (p.Ala573=)

SNV
Germline

Chr7:116755372

Conflicting classifications of pathogenicity

Renal cell carcinoma
Hereditary cancer-predisposing syndrome
MET-related disorder
Papillary renal cell carcinoma type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4448277

rs_199776656

6 SubmittersRCV000874800 RCV002256577 RCV003895353 RCV005249240 RCV004584817

NM_000245.4(MET):c.3321T>C (p.Cys1107=)

SNV
Germline

Chr7:116777450

Conflicting classifications of pathogenicity

Renal cell carcinoma
Hereditary cancer-predisposing syndrome
Condition: not provided
Papillary renal cell carcinoma type 1

Criteria Provided
Conflicting Classifications

CA457218603

rs_1584959989

4 SubmittersRCV000875730 RCV002454036 RCV003235428 RCV005249248

NM_004958.4(MTOR):c.3026G>A (p.Arg1009Gln)

SNV
Germline

Chr1:11228672

Conflicting classifications of pathogenicity

Papillary renal cell carcinoma type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA590334

rs_778855567

2 SubmittersRCV000986236 RCV005092966

NM_004958.4(MTOR):c.889G>A (p.Asp297Asn)

SNV
Germline

Chr1:11248046

Conflicting classifications of pathogenicity

Papillary renal cell carcinoma type 1
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA590850

rs_141936187

5 SubmittersRCV000986237 RCV001519677 RCV001815014

NM_000458.4(HNF1B):c.578T>C (p.Met193Thr)

SNV
Germline

Chr17:37733788

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Renal cysts and diabetes syndrome
Type 2 diabetes mellitus
Nonpapillary renal cell carcinoma
Renal cysts and diabetes syndrome

Criteria Provided
Conflicting Classifications

CA398749868

rs_760079000

5 SubmittersRCV000993279 RCV001819702 RCV002489483 RCV005621058

NM_000458.4(HNF1B):c.314A>G (p.Glu105Gly)

SNV
Germline

Chr17:37744571

Conflicting classifications of pathogenicity

Condition: not provided
Renal cysts and diabetes syndrome
Type 2 diabetes mellitus
Nonpapillary renal cell carcinoma
HNF1B-related disorder

Criteria Provided
Conflicting Classifications

CA8519116

rs_375625110

3 SubmittersRCV000993277 RCV002505508 RCV003413784

NM_000245.4(MET):c.367G>A (p.Asp123Asn)

SNV
Germline

Chr7:116699451

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Papillary renal cell carcinoma type 1
Renal cell carcinoma
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4447982

rs_760106468

4 SubmittersRCV001020864 RCV001047517 RCV001293428 RCV001759707

NM_000245.4(MET):c.1627G>A (p.Asp543Asn)

SNV
Germline

Chr7:116740951

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Renal cell carcinoma
Papillary renal cell carcinoma type 1
Autosomal recessive nonsyndromic hearing loss 97

Criteria Provided
Conflicting Classifications

CA4448212

rs_763991073

4 SubmittersRCV001012479 RCV001860711 RCV003153883 RCV003467603

NM_144997.7(FLCN):c.734C>A (p.Thr245Lys)

SNV
Germline

Chr17:17222546

Conflicting classifications of pathogenicity

Condition: not provided
Colorectal cancer
Familial spontaneous pneumothorax
Birt-Hogg-Dube syndrome 1
Nonpapillary renal cell carcinoma
Hereditary cancer-predisposing syndrome
Birt-Hogg-Dube syndrome
Birt-Hogg-Dube syndrome 1

Criteria Provided
Conflicting Classifications

CA8416328

rs_371401039

6 SubmittersRCV001759715 RCV005004488 RCV001026310 RCV001247341 RCV004570066

NM_144997.7(FLCN):c.703G>A (p.Gly235Ser)

SNV
Germline

Chr17:17222577

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Birt-Hogg-Dube syndrome
not specified
Birt-Hogg-Dube syndrome 1
Colorectal cancer
Familial spontaneous pneumothorax
Birt-Hogg-Dube syndrome 1
Nonpapillary renal cell carcinoma

Criteria Provided
Conflicting Classifications

CA8416335

rs_200693409

6 SubmittersRCV001025960 RCV001209824 RCV003321779 RCV004789362 RCV005012453

NM_144997.7(FLCN):c.611C>T (p.Ala204Val)

SNV
Germline

Chr17:17223929

Conflicting classifications of pathogenicity

Birt-Hogg-Dube syndrome
Nonpapillary renal cell carcinoma
Familial spontaneous pneumothorax
Birt-Hogg-Dube syndrome 1
Colorectal cancer
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA8416373

rs_766401197

4 SubmittersRCV001064258 RCV005021334 RCV005411636 RCV001024911

NM_144997.7(FLCN):c.176G>T (p.Arg59Leu)

SNV
Germline

Chr17:17227962

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Birt-Hogg-Dube syndrome
Birt-Hogg-Dube syndrome 1
Familial spontaneous pneumothorax
Colorectal cancer
Nonpapillary renal cell carcinoma
Birt-Hogg-Dube syndrome 1

Criteria Provided
Conflicting Classifications

CA8416507

rs_374969279

5 SubmittersRCV001013095 RCV001055863 RCV004569916 RCV005021324

NM_000245.4(MET):c.3633-4G>A

SNV
Germline

Chr7:116783300

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Renal cell carcinoma
Papillary renal cell carcinoma type 1

Criteria Provided
Conflicting Classifications

CA832021001

rs_1477354447

3 SubmittersRCV001020880 RCV001402938 RCV005245669

NM_000551.4(VHL):c.151G>C (p.Glu51Gln)

SNV
Germline

Chr3:10141998

Conflicting classifications of pathogenicity

Von Hippel-Lindau syndrome
Chuvash polycythemia
Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
Nonpapillary renal cell carcinoma
Chuvash polycythemia
Pheochromocytoma

Criteria Provided
Conflicting Classifications

CA351748282

rs_1480825246

3 SubmittersRCV001042972 RCV004031308 RCV005029601

NM_000245.4(MET):c.811G>A (p.Ala271Thr)

SNV
Germline

Chr7:116699895

Conflicting classifications of pathogenicity

Renal cell carcinoma
Hereditary cancer-predisposing syndrome
Papillary renal cell carcinoma type 1

Criteria Provided
Conflicting Classifications

CA368969903

rs_1162540199

3 SubmittersRCV001037254 RCV002416336 RCV005055146

NM_000245.4(MET):c.1450C>T (p.His484Tyr)

SNV
Germline

Chr7:116740007

Conflicting classifications of pathogenicity

Papillary renal cell carcinoma type 1
Renal cell carcinoma
Hereditary cancer-predisposing syndrome
Autosomal recessive nonsyndromic hearing loss 97
Osteofibrous dysplasia
Arthrogryposis, distal, IIa 11
Autosomal recessive nonsyndromic hearing loss 97
Papillary renal cell carcinoma type 1
Hepatocellular carcinoma

Criteria Provided
Conflicting Classifications

CA4448163

rs_771272439

4 SubmittersRCV001052826 RCV001358788 RCV002393269 RCV003462554 RCV005036345

NM_144997.7(FLCN):c.1277T>C (p.Ile426Thr)

SNV
Germline

Chr17:17216403

Conflicting classifications of pathogenicity

Birt-Hogg-Dube syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
FLCN-related disorder
Familial spontaneous pneumothorax
Colorectal cancer
Nonpapillary renal cell carcinoma
Birt-Hogg-Dube syndrome 1

Criteria Provided
Conflicting Classifications

CA8416080

rs_766990565

5 SubmittersRCV001053514 RCV002445285 RCV003128742 RCV004746219 RCV005021381

NM_144997.7(FLCN):c.562T>A (p.Phe188Ile)

SNV
Germline

Chr17:17223978

Conflicting classifications of pathogenicity

Birt-Hogg-Dube syndrome
Hereditary cancer-predisposing syndrome
Nonpapillary renal cell carcinoma
Birt-Hogg-Dube syndrome
Familial spontaneous pneumothorax
17p11.2 microduplication syndrome
Colorectal cancer
Ovarian cancer
Birt-Hogg-Dube syndrome 1

Criteria Provided
Conflicting Classifications

CA398534283

rs_1407566775

5 SubmittersRCV001056721 RCV002348418 RCV002505612 RCV003153913 RCV005245718

NM_144997.7(FLCN):c.319G>A (p.Val107Ile)

SNV
Germline

Chr17:17226253

Conflicting classifications of pathogenicity

Birt-Hogg-Dube syndrome
Condition: not provided
Nonpapillary renal cell carcinoma
Birt-Hogg-Dube syndrome 1
Familial spontaneous pneumothorax
Colorectal cancer
Ovarian cancer
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA398534851

rs_1372666497

5 SubmittersRCV001058910 RCV001776114 RCV005012505 RCV003153916 RCV003346290

NM_144997.7(FLCN):c.179C>T (p.Ala60Val)

SNV
Germline

Chr17:17227959

Conflicting classifications of pathogenicity

Birt-Hogg-Dube syndrome
Hereditary cancer-predisposing syndrome
Colorectal cancer
Nonpapillary renal cell carcinoma
Familial spontaneous pneumothorax
Birt-Hogg-Dube syndrome
17p11.2 microduplication syndrome
Condition: not provided
FLCN-related disorder
Birt-Hogg-Dube syndrome 1

Criteria Provided
Conflicting Classifications

CA8416505

rs_779900587

6 SubmittersRCV001048408 RCV002409416 RCV002481942 RCV003442168 RCV003393808 RCV005245715

NM_144997.7(FLCN):c.1300+4C>T

SNV
Germline

Chr17:17216376

Conflicting classifications of pathogenicity

Birt-Hogg-Dube syndrome
Nonpapillary renal cell carcinoma
Birt-Hogg-Dube syndrome
Familial spontaneous pneumothorax
17p11.2 microduplication syndrome
Colorectal cancer
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA625014948

rs_1207963576

3 SubmittersRCV001063632 RCV002479376 RCV004030499

NM_144997.7(FLCN):c.798C>T (p.Gly266=)

SNV
Germline

Chr17:17221610

Conflicting classifications of pathogenicity

Familial spontaneous pneumothorax
Birt-Hogg-Dube syndrome
Nonpapillary renal cell carcinoma
Birt-Hogg-Dube syndrome
Familial spontaneous pneumothorax
17p11.2 microduplication syndrome
Colorectal cancer

Criteria Provided
Conflicting Classifications

CA498163764

rs_2047092959

3 SubmittersRCV001122058 RCV001122059 RCV002491378

NM_000245.4(MET):c.2673C>T (p.Ala891=)

SNV
Germline

Chr7:116769734

Conflicting classifications of pathogenicity

not specified
Renal cell carcinoma
Papillary renal cell carcinoma type 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA4448546

rs_561131509

5 SubmittersRCV003320806 RCV001503608 RCV001161417 RCV002429783

NM_000245.4(MET):c.2055G>T (p.Gly685=)

SNV
Germline

Chr7:116757727

Conflicting classifications of pathogenicity

Renal cell carcinoma
Papillary renal cell carcinoma type 1

Criteria Provided
Conflicting Classifications

CA457216557

rs_766401668

2 SubmittersRCV001207167 RCV005245788

NM_000551.4(VHL):c.130G>C (p.Gly44Arg)

SNV
Germline

Chr3:10141977

Conflicting classifications of pathogenicity

Chuvash polycythemia
Von Hippel-Lindau syndrome
Pheochromocytoma
Chuvash polycythemia
Von Hippel-Lindau syndrome
Nonpapillary renal cell carcinoma
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA351748058

rs_1575921446

3 SubmittersRCV001233308 RCV002484277 RCV005512962

NM_000551.4(VHL):c.93G>C (p.Glu31Asp)

SNV
Germline

Chr3:10141940

Conflicting classifications of pathogenicity

Von Hippel-Lindau syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Nonpapillary renal cell carcinoma
Chuvash polycythemia
Pheochromocytoma
Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome

Criteria Provided
Conflicting Classifications

CA351747611

rs_1438911242

5 SubmittersRCV001243676 RCV005036526 RCV004034759 RCV004803600

NM_000245.4(MET):c.2265-10G>T

SNV
Germline

Chr7:116759381

Conflicting classifications of pathogenicity

Renal cell carcinoma
Papillary renal cell carcinoma type 1
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA368981835

rs_1355716761

4 SubmittersRCV001247152 RCV005245802 RCV005429321 RCV003166554

NM_000245.4(MET):c.4122C>A (p.Asn1374Lys)

SNV
Germline

Chr7:116796073

Conflicting classifications of pathogenicity

Renal cell carcinoma
Hereditary cancer-predisposing syndrome
Autosomal recessive nonsyndromic hearing loss 97
Papillary renal cell carcinoma type 1
Hepatocellular carcinoma
Osteofibrous dysplasia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA369118437

rs_370767911

5 SubmittersRCV001247842 RCV002259098 RCV002480850 RCV004720817

NM_000458.4(HNF1B):c.908G>A (p.Arg303His)

SNV
Germline

Chr17:37731732

Conflicting classifications of pathogenicity

Renal cysts and diabetes syndrome
Maturity onset diabetes mellitus in young
Type 2 diabetes mellitus
Nonpapillary renal cell carcinoma
Renal cysts and diabetes syndrome

Criteria Provided
Conflicting Classifications

CA398746770

rs_2033692404

3 SubmittersRCV001253232 RCV002465858 RCV005014310

NM_000245.4(MET):c.2102+5T>G

SNV
Germline

Chr7:116757779

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Renal cell carcinoma
Papillary renal cell carcinoma type 1

Criteria Provided
Conflicting Classifications

CA1737022662

rs_1794247110

3 SubmittersRCV002418889 RCV001296633 RCV005245810

NM_000245.4(MET):c.3403A>T (p.Ser1135Cys)

SNV
Germline

Chr7:116778838

Conflicting classifications of pathogenicity

Renal cell carcinoma
Hereditary cancer-predisposing syndrome
Arthrogryposis, distal, IIa 11
Hepatocellular carcinoma
Osteofibrous dysplasia
Papillary renal cell carcinoma type 1
Autosomal recessive nonsyndromic hearing loss 97

Criteria Provided
Conflicting Classifications

CA368990081

rs_1394199299

3 SubmittersRCV001321691 RCV002341660 RCV005040180

NM_000551.4(VHL):c.88G>C (p.Gly30Arg)

SNV
Germline

Chr3:10141935

Conflicting classifications of pathogenicity

Von Hippel-Lindau syndrome
Chuvash polycythemia
Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
Pheochromocytoma
Nonpapillary renal cell carcinoma
Chuvash polycythemia
Von Hippel-Lindau syndrome

Criteria Provided
Conflicting Classifications

CA351747563

rs_913104799

4 SubmittersRCV001351817 RCV002377495 RCV002486456 RCV004005245

NM_144997.7(FLCN):c.1709G>T (p.Arg570Leu)

SNV
Germline

Chr17:17213686

Conflicting classifications of pathogenicity

Birt-Hogg-Dube syndrome
Birt-Hogg-Dube syndrome
Colorectal cancer
Nonpapillary renal cell carcinoma
Familial spontaneous pneumothorax
17p11.2 microduplication syndrome
Hereditary cancer-predisposing syndrome
Birt-Hogg-Dube syndrome 1

Criteria Provided
Conflicting Classifications

CA288303537

rs_201056799

4 SubmittersRCV001347686 RCV002493791 RCV002404819 RCV004570844

NM_000245.4(MET):c.255G>A (p.Lys85=)

SNV
Germline

Chr7:116699339

Conflicting classifications of pathogenicity

Renal cell carcinoma
Condition: not provided
Hereditary cancer-predisposing syndrome
Papillary renal cell carcinoma type 1

Criteria Provided
Conflicting Classifications

CA457448015

rs_1327946446

5 SubmittersRCV001443035 RCV001564400 RCV002456741 RCV005246031

NM_000245.4(MET):c.1863-5T>C

SNV
Germline

Chr7:116757432

Conflicting classifications of pathogenicity

Renal cell carcinoma
Hereditary cancer-predisposing syndrome
Papillary renal cell carcinoma type 1

Criteria Provided
Conflicting Classifications

CA4448311

rs_751421114

3 SubmittersRCV001435583 RCV004945142 RCV005246007

NM_000458.4(HNF1B):c.231C>G (p.Asp77Glu)

SNV
Germline

Chr17:37744654

Conflicting classifications of pathogenicity

Condition: not provided
HNF1B-related disorder
Renal cysts and diabetes syndrome
Type 2 diabetes mellitus
Nonpapillary renal cell carcinoma

Criteria Provided
Conflicting Classifications

CA290293155

rs_760448993

3 SubmittersRCV001561691 RCV004753366 RCV005005965

NM_000458.4(HNF1B):c.66C>A (p.Thr22=)

SNV
Germline

Chr17:37744819

Conflicting classifications of pathogenicity

Condition: not provided
Maturity onset diabetes mellitus in young
Renal cysts and diabetes syndrome
Nonpapillary renal cell carcinoma
Type 2 diabetes mellitus

Criteria Provided
Conflicting Classifications

CA290293275

rs_906719754

4 SubmittersRCV001757460 RCV002361043 RCV005014650

NM_000245.4(MET):c.617T>C (p.Phe206Ser)

SNV
Germline

Chr7:116699701

Conflicting classifications of pathogenicity

Condition: not provided
Renal cell carcinoma
Hereditary cancer-predisposing syndrome
Ovarian cancer
Osteofibrous dysplasia
Autosomal recessive nonsyndromic hearing loss 97
Arthrogryposis, distal, IIa 11
Papillary renal cell carcinoma type 1
Hepatocellular carcinoma

Criteria Provided
Conflicting Classifications

CA4448009

rs_746295363

6 SubmittersRCV001776321 RCV001885127 RCV002359250 RCV003154195 RCV005397014

NM_000245.4(MET):c.2828C>T (p.Thr943Ile)

SNV
Germline

Chr7:116771595

Conflicting classifications of pathogenicity

Papillary renal cell carcinoma type 1
Renal cell carcinoma
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA368986605

rs_2116992551

3 SubmittersRCV001829264 RCV002545205 RCV002440897

NM_144997.7(FLCN):c.970C>T (p.Gln324Ter)

SNV
Germline

Chr17:17219111

Pathogenic/Likely pathogenic

Birt-Hogg-Dube syndrome
Hereditary cancer-predisposing syndrome
Familial spontaneous pneumothorax
Nonpapillary renal cell carcinoma
Birt-Hogg-Dube syndrome 1
Colorectal cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA398532899

rs_2144896021

3 SubmittersRCV001897169 RCV002370435 RCV005016733

NM_000245.4(MET):c.2016C>T (p.Gly672=)

SNV
Germline

Chr7:116757688

Conflicting classifications of pathogenicity

Renal cell carcinoma
Papillary renal cell carcinoma type 1
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4448360

rs_768149852

4 SubmittersRCV001960337 RCV005247307 RCV005370063 RCV005401879

NM_000458.4(HNF1B):c.634C>T (p.Gln212Ter)

SNV
Germline

Chr17:37733732

Pathogenic/Likely pathogenic

Condition: not provided
Nonpapillary renal cell carcinoma
Renal cysts and diabetes syndrome
Type 2 diabetes mellitus

Criteria Provided
Multiple Submitters
No Conflicts

CA398749422

rs_2147553451

2 SubmittersRCV001953701 RCV002492130

NM_000245.4(MET):c.232C>T (p.Leu78Phe)

SNV
Germline

Chr7:116699316

Conflicting classifications of pathogenicity

Renal cell carcinoma
Hereditary cancer-predisposing syndrome
Hereditary papillary renal cell carcinoma

Criteria Provided
Conflicting Classifications

CA4447964

rs_766815155

3 SubmittersRCV001944983 RCV003164177 RCV005601815

NM_000551.4(VHL):c.553T>A (p.Tyr185Asn)

SNV
Germline

Chr3:10149876

Conflicting classifications of pathogenicity

Chuvash polycythemia
Von Hippel-Lindau syndrome
Von Hippel-Lindau syndrome
Chuvash polycythemia
Chuvash polycythemia
Nonpapillary renal cell carcinoma
Pheochromocytoma
Von Hippel-Lindau syndrome

Criteria Provided
Conflicting Classifications

CA041587

rs_768390987

4 SubmittersRCV001905552 RCV004785360 RCV003470996 RCV005038435

NM_000551.4(VHL):c.67T>G (p.Tyr23Asp)

SNV
Germline

Chr3:10141914

Conflicting classifications of pathogenicity

Chuvash polycythemia
Von Hippel-Lindau syndrome
Chuvash polycythemia
Pheochromocytoma
Von Hippel-Lindau syndrome
Nonpapillary renal cell carcinoma
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA351747388

rs_1696118253

3 SubmittersRCV002001124 RCV005032064 RCV004946996

NM_144997.7(FLCN):c.1539-16T>G

SNV
Germline

Chr17:17213872

Conflicting classifications of pathogenicity

Birt-Hogg-Dube syndrome
Familial spontaneous pneumothorax
Nonpapillary renal cell carcinoma
Birt-Hogg-Dube syndrome 1
Colorectal cancer
Birt-Hogg-Dube syndrome 1

Criteria Provided
Conflicting Classifications

CA8415938

rs_553673947

3 SubmittersRCV002124714 RCV005008463 RCV004785496

NM_000245.4(MET):c.3523-10T>C

SNV
Germline

Chr7:116781978

Conflicting classifications of pathogenicity

Renal cell carcinoma
not specified
Condition: not provided
Papillary renal cell carcinoma type 1

Criteria Provided
Conflicting Classifications

CA2573141532

rs_2117059286

4 SubmittersRCV002186025 RCV003493923 RCV004779261 RCV005248536

NM_000245.4(MET):c.1149G>A (p.Val383=)

SNV
Germline

Chr7:116700233

Conflicting classifications of pathogenicity

Renal cell carcinoma
Papillary renal cell carcinoma type 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA457448153

rs_1033586067

3 SubmittersRCV002108781 RCV005247549 RCV004945959

NM_144997.7(FLCN):c.1432+13A>C

SNV
Germline

Chr17:17215172

Conflicting classifications of pathogenicity

Birt-Hogg-Dube syndrome
Familial spontaneous pneumothorax
Birt-Hogg-Dube syndrome 1
Colorectal cancer
Nonpapillary renal cell carcinoma

Criteria Provided
Conflicting Classifications

CA8415996

rs_763241810

2 SubmittersRCV002129459 RCV005017133

NM_144997.7(FLCN):c.688C>T (p.Leu230=)

SNV
Germline

Chr17:17222592

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Colorectal cancer
Birt-Hogg-Dube syndrome 1
Nonpapillary renal cell carcinoma
Familial spontaneous pneumothorax

Criteria Provided
Conflicting Classifications

CA498164601

rs_1198336361

2 SubmittersRCV002362267 RCV005008560

NM_000458.4(HNF1B):c.516C>T (p.Tyr172=)

SNV
Germline

Chr17:37739468

Conflicting classifications of pathogenicity

Maturity onset diabetes mellitus in young
Condition: not provided
Type 2 diabetes mellitus
Nonpapillary renal cell carcinoma
Renal cysts and diabetes syndrome

Criteria Provided
Conflicting Classifications

CA8519068

rs_764561297

3 SubmittersRCV002465368 RCV003720643 RCV005008591

NM_144997.7(FLCN):c.871+2T>C

SNV
Germline

Chr17:17221535

Likely pathogenic

Birt-Hogg-Dube syndrome
Familial spontaneous pneumothorax
Birt-Hogg-Dube syndrome 1
Nonpapillary renal cell carcinoma
Colorectal cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA398533604

rs_2544218927

3 SubmittersRCV002616398 RCV005021620

NM_000245.4(MET):c.3028+5A>G

SNV
Germline

Chr7:116771994

Conflicting classifications of pathogenicity

Renal cell carcinoma
Papillary renal cell carcinoma type 1

Criteria Provided
Conflicting Classifications

CA2580076374

rs_2485780102

2 SubmittersRCV002610955 RCV005248955

NM_000245.4(MET):c.2265-18T>C

SNV
Germline

Chr7:116759373

Conflicting classifications of pathogenicity

Renal cell carcinoma
Hereditary cancer-predisposing syndrome
Papillary renal cell carcinoma type 1

Criteria Provided
Conflicting Classifications

CA457217165

rs_1794308770

3 SubmittersRCV002801457 RCV003367886 RCV005248849

NM_000458.4(HNF1B):c.345-2A>G

SNV
Germline

Chr17:37739641

Likely pathogenic

Renal cysts and diabetes syndrome
Renal cysts and diabetes syndrome
Type 2 diabetes mellitus
Nonpapillary renal cell carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA398751766

rs_2511830105

2 SubmittersRCV003444161 RCV004796809

NM_000458.4(HNF1B):c.544+5G>A

SNV
Germline

Chr17:37739435

Conflicting classifications of pathogenicity

Type 2 diabetes mellitus
Nonpapillary renal cell carcinoma
Renal cysts and diabetes syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2697559834

rs_2511827891

3 SubmittersRCV005013009 RCV003546383

NM_000245.4(MET):c.1056T>C (p.Asp352=)

SNV
Germline

Chr7:116700140

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Papillary renal cell carcinoma type 1

Criteria Provided
Conflicting Classifications

CA457448279

rs_2116604421

3 SubmittersRCV004523529 RCV005000520 RCV005249694

NM_144997.7(FLCN):c.1356G>A (p.Val452=)

SNV
Germline

Chr17:17215261

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial spontaneous pneumothorax
Colorectal cancer
Nonpapillary renal cell carcinoma
Birt-Hogg-Dube syndrome 1

Criteria Provided
Conflicting Classifications

CA8416020

rs_760690745

2 SubmittersRCV004524811 RCV005015171

NM_000458.4(HNF1B):c.1038G>A (p.Lys346=)

SNV
Germline

Chr17:37731602

Conflicting classifications of pathogenicity

Nonpapillary renal cell carcinoma
Renal cysts and diabetes syndrome
Type 2 diabetes mellitus
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005020183 RCV005112671

NM_000458.4(HNF1B):c.891C>A (p.Tyr297Ter)

SNV
Germline

Chr17:37731749

Likely pathogenic

Nonpapillary renal cell carcinoma
Renal cysts and diabetes syndrome
Type 2 diabetes mellitus

Criteria Provided
Single Submitter

1 SubmittersRCV005020187

NM_000458.4(HNF1B):c.454C>T (p.Gln152Ter)

SNV
Germline

Chr17:37739530

Likely pathogenic

Nonpapillary renal cell carcinoma
Renal cysts and diabetes syndrome
Type 2 diabetes mellitus

Criteria Provided
Single Submitter

1 SubmittersRCV005010235

NM_144997.7(FLCN):c.780-10T>C

SNV
Germline

Chr17:17221638

Conflicting classifications of pathogenicity

Familial spontaneous pneumothorax
Colorectal cancer
Nonpapillary renal cell carcinoma
Birt-Hogg-Dube syndrome 1
Birt-Hogg-Dube syndrome 1
Birt-Hogg-Dube syndrome

Criteria Provided
Conflicting Classifications

3 SubmittersRCV005010178 RCV005249755 RCV005112645

NM_000245.4(MET):c.1443G>A (p.Leu481=)

SNV
Germline

Chr7:116740000

Conflicting classifications of pathogenicity

Renal cell carcinoma
Papillary renal cell carcinoma type 1

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005186708 RCV005249822