Total 180 pathogenic variants reported for Papillary renal cell carcinoma 
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
Chuvash polycythemia
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA020473 rs_5030823

6 SubmittersRCV000002299RCV000208867RCV000703889RCV003162205
NM_000551.4(VHL):c.499C>T (p.Arg167Trp) SNV
Germline		 Chr3:10149822 Pathogenic/Likely pathogenic Von Hippel-Lindau syndrome
Pheochromocytoma
Hereditary cancer-predisposing syndrome
Condition: not provided
Chuvash polycythemia
Von Hippel-Lindau syndrome
Chuvash polycythemia
Nonpapillary renal cell carcinoma
Pheochromocytoma
Von Hippel-Lindau syndrome
Chuvash polycythemia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA020450 rs_5030820

16 SubmittersRCV000002302RCV000002303RCV000132159RCV000213079RCV000627746RCV000763092RCV003992144
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
Hereditary cancer-predisposing syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Acute leukemia of ambiguous lineage
Nonpapillary renal cell carcinoma
VHL-related disorder		 Criteria Provided
Conflicting Classifications
 CA020510 rs_28940298

21 SubmittersRCV000002320RCV000122262RCV000148922RCV000161094RCV000574264RCV000627742RCV000722031RCV002247239RCV004742206
NM_000551.4(VHL):c.574C>T (p.Pro192Ser) SNV
Germline		 Chr3:10149897 Conflicting classifications of pathogenicity Chuvash polycythemia
Condition: not provided
Chuvash polycythemia
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Chuvash polycythemia
Nonpapillary renal cell carcinoma
Pheochromocytoma
Von Hippel-Lindau syndrome
Von Hippel-Lindau syndrome		 Criteria Provided
Conflicting Classifications
 CA020501 rs_28940300

8 SubmittersRCV000002322RCV000236065RCV000704063RCV001024480RCV002490296RCV003996075
NM_000458.4(HNF1B):c.529C>T (p.Arg177Ter) SNV
Germline		 Chr17:37739455 Pathogenic Renal cysts and diabetes syndrome
Condition: not provided
Type 2 diabetes mellitus
Nonpapillary renal cell carcinoma
Renal cysts and diabetes syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA122597

7 SubmittersRCV000013470RCV001851826RCV002496342
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
Type 2 diabetes mellitus
Nonpapillary renal cell carcinoma
Renal cysts and diabetes syndrome
Maturity onset diabetes mellitus in young		 Criteria Provided
Multiple Submitters
No Conflicts
 CA122601

11 SubmittersRCV000013475RCV001328308RCV002472930RCV002496343RCV004689416
NM_000458.4(HNF1B):c.544+1G>A SNV
Germline		 Chr17:37739439 Pathogenic Renal cysts and diabetes syndrome
Condition: not provided
Type 2 diabetes mellitus
Nonpapillary renal cell carcinoma
Renal cysts and diabetes syndrome		 Criteria Provided
Multiple Submitters
No Conflicts

7 SubmittersRCV000013478RCV001794444RCV002504781
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

11 SubmittersRCV000013482RCV002482860RCV002466400RCV001659694RCV002051783
NM_000245.4(MET):c.3392T>C (p.Met1131Thr) SNV
Germline		 Chr7:116778827 Pathogenic Papillary renal cell carcinoma type 1
Hereditary cancer-predisposing syndrome
Renal cell carcinoma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA256991 rs_121913668

3 SubmittersRCV000014895RCV000565834RCV002228027
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 SubmittersRCV000014897RCV000221989RCV001579843RCV001376555
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 SubmittersRCV000014899RCV001851861RCV002362584
NM_000245.4(MET):c.3583C>G (p.Leu1195Val) SNV
Somatic		 Chr7:116782048 Pathogenic Papillary renal cell carcinoma type 1 No Assertion Criteria Provided
 CA257006 rs_121913673

1 SubmittersRCV000014900
NM_000245.4(MET):c.3281A>G (p.His1094Arg) SNV
Germline		 Chr7:116777410 Pathogenic Papillary renal cell carcinoma type 1
Condition: not provided
Renal cell carcinoma
Hereditary cancer-predisposing syndrome
MET-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA221506 rs_121913243

7 SubmittersRCV000014901RCV000079490RCV001376564RCV002321481RCV003407332
NM_003000.3(SDHB):c.32G>A (p.Arg11His) SNV
Germline		 Chr1:17053988 Conflicting classifications of pathogenicity Papillary renal cell carcinoma type 1
Pheochromocytoma
Gastrointestinal stromal tumor
Paragangliomas 4
Hereditary pheochromocytoma-paraganglioma
Hereditary cancer-predisposing syndrome
not specified
Paragangliomas 4
Gastrointestinal stromal tumor
Pheochromocytoma
Paraganglioma
Condition: not provided
Pheochromocytoma
Mitochondrial complex 2 deficiency, nuclear type 4
Pheochromocytoma
Gastrointestinal stromal tumor
Carney-Stratakis syndrome
Paragangliomas 4
Paraganglioma
SDHB-related disorder		 Criteria Provided
Conflicting Classifications
 CA015753 rs_111430410

15 SubmittersRCV000148868RCV000232749RCV000505348RCV000568010RCV000607044RCV000662963RCV000986269RCV001253761RCV001731321RCV002250465RCV002477028RCV002250466RCV004532428
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 SubmittersRCV000030533RCV000345835RCV002054524RCV002250467RCV003315522
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		 Criteria Provided
Conflicting Classifications
 CA160417 rs_56391007

26 SubmittersRCV000034529RCV000121340RCV000123120RCV000163261RCV000203290RCV001507182RCV002227927RCV003891465
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
Renal cell carcinoma
Autosomal recessive nonsyndromic hearing loss 97
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA215657 rs_201037977

6 SubmittersRCV000034530RCV000697527RCV001328503RCV003460544RCV000569927
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		 Criteria Provided
Conflicting Classifications
 CA147098 rs_55985569

21 SubmittersRCV000034532RCV000079496RCV000119201RCV000129671RCV001507196
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
not specified
Renal cell carcinoma
MET-related disorder		 Criteria Provided
Conflicting Classifications
 CA215665 rs_201467281

11 SubmittersRCV000034535RCV000123136RCV000563453RCV000599960RCV001507142RCV003944878
NM_000551.4(VHL):c.319C>G (p.Arg107Gly) SNV
Germline		 Chr3:10142166 Pathogenic/Likely pathogenic Von Hippel-Lindau syndrome
Pheochromocytoma
Von Hippel-Lindau syndrome
Chuvash polycythemia
Nonpapillary renal cell carcinoma
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA020257 rs_397516440

3 SubmittersRCV000036542RCV000763091RCV002321506
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
Lynch syndrome 1
Hereditary nonpolyposis colorectal neoplasms
not specified
Hereditary nonpolyposis colon cancer
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA016975 rs_267607939

16 SubmittersRCV000128932RCV000148635RCV000588936RCV000764423RCV000986664RCV001085377RCV001844030RCV002279934RCV004760366
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

9 SubmittersRCV000079480RCV000123109RCV000567262RCV001312208RCV002267846RCV004700392
NM_144997.7(FLCN):c.1533G>A (p.Trp511Ter) SNV
Germline		 Chr17:17214990 Pathogenic Condition: not provided
Birt-Hogg-Dube syndrome
Hereditary cancer-predisposing syndrome
Potocki-Lupski syndrome
Birt-Hogg-Dube syndrome
Nonpapillary renal cell carcinoma
Familial spontaneous pneumothorax
Colorectal cancer		 Criteria Provided
Multiple Submitters
No Conflicts
 CA224159 rs_398124530

6 SubmittersRCV000082630RCV000239664RCV002399473RCV002505009
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
Potocki-Lupski syndrome
Birt-Hogg-Dube syndrome
Nonpapillary renal cell carcinoma
Familial spontaneous pneumothorax
Colorectal cancer
FLCN-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA224166 rs_398124533

12 SubmittersRCV000082633RCV000239670RCV000492149RCV002490730RCV003421978
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

12 SubmittersRCV000119117RCV000121345RCV000567774RCV000657129RCV001420970RCV003492511RCV003467064RCV003894956
NM_144997.7(FLCN):c.134C>G (p.Ala45Gly) SNV
Germline		 Chr17:17228004 Conflicting classifications of pathogenicity not specified
Hereditary cancer-predisposing syndrome
Birt-Hogg-Dube syndrome
Nonpapillary renal cell carcinoma
Birt-Hogg-Dube syndrome
Familial spontaneous pneumothorax
Potocki-Lupski syndrome
Carcinoma of colon
FLCN-related disorder		 Criteria Provided
Conflicting Classifications
 CA159761 rs_556510460

5 SubmittersRCV000121099RCV000163762RCV000543424RCV000765335RCV003952599
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
Birt-Hogg-Dube syndrome
Familial spontaneous pneumothorax
Potocki-Lupski syndrome
Colorectal cancer
Nonpapillary renal cell carcinoma
Condition: not provided
Birt-Hogg-Dube syndrome 1		 Criteria Provided
Conflicting Classifications
 CA159789 rs_199889477

7 SubmittersRCV000121110RCV000568600RCV000635530RCV002483217RCV004719701RCV004786380
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
Birt-Hogg-Dube syndrome
Potocki-Lupski syndrome
Familial spontaneous pneumothorax
Nonpapillary renal cell carcinoma
Colorectal cancer		 Criteria Provided
Conflicting Classifications
 CA159798 rs_190786280

9 SubmittersRCV000121113RCV000535074RCV000573718RCV001562933RCV002492423
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
Hereditary cancer-predisposing syndrome
Condition: not provided
Renal cell carcinoma
MET-related disorder		 Criteria Provided
Conflicting Classifications
 CA160439 rs_180985111

11 SubmittersRCV000121347RCV000148614RCV000167873RCV000210818RCV001560219RCV001450079RCV003965017
NM_000245.4(MET):c.1771C>T (p.Arg591Trp) SNV
Germline		 Chr7:116755424 Conflicting classifications of pathogenicity not specified
Hereditary cancer-predisposing syndrome
Papillary renal cell carcinoma type 1
Condition: not provided
Renal cell carcinoma
Autosomal recessive nonsyndromic hearing loss 97
MET-related disorder		 Criteria Provided
Conflicting Classifications
 CA332158 rs_45602940

10 SubmittersRCV000121353RCV000210762RCV000206655RCV001562214RCV001293429RCV004567048RCV003945083
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
Hereditary cancer-predisposing syndrome
Renal cell carcinoma
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA160456 rs_587778446

6 SubmittersRCV000121354RCV000303828RCV001013805RCV001312221RCV001775598
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
Hereditary cancer-predisposing syndrome
Condition: not provided
Chuvash polycythemia
Von Hippel-Lindau syndrome
Pheochromocytoma
Nonpapillary renal cell carcinoma		 Criteria Provided
Conflicting Classifications
 CA020331 rs_578091032

13 SubmittersRCV000122260RCV000409700RCV000467198RCV000492595RCV000657025RCV002483231
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
Condition: not provided
Renal cell carcinoma
not specified		 Criteria Provided
Conflicting Classifications
 CA189064 rs_373312981

8 SubmittersRCV000123113RCV000163732RCV001544764RCV001358784RCV002267864
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
Renal cell carcinoma
not specified
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 97		 Criteria Provided
Conflicting Classifications
 CA332674 rs_369312680

7 SubmittersRCV000123123RCV001021780RCV002228636RCV002465526RCV003318551RCV004567065
NM_000245.4(MET):c.467C>T (p.Ser156Leu) SNV
Germline		 Chr7:116699551 Conflicting classifications of pathogenicity Papillary renal cell carcinoma type 1
Renal cell carcinoma
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary cancer
MET-related disorder		 Criteria Provided
Conflicting Classifications
 CA332680 rs_56311081

8 SubmittersRCV000123126RCV001450089RCV002465527RCV000572531RCV001557296RCV003492549RCV003975093
NM_000245.4(MET):c.689C>T (p.Thr230Met) SNV
Germline		 Chr7:116699773 Conflicting classifications of pathogenicity Papillary renal cell carcinoma type 1
not specified
Renal cell carcinoma
Condition: not provided
Hereditary cancer-predisposing syndrome
Autosomal recessive nonsyndromic hearing loss 97		 Criteria Provided
Conflicting Classifications
 CA332692 rs_587780740

6 SubmittersRCV000123131RCV002465528RCV002228448RCV001753507RCV002371957RCV003467092
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
Familial spontaneous pneumothorax
Potocki-Lupski syndrome
Birt-Hogg-Dube syndrome
Nonpapillary renal cell carcinoma
Colorectal cancer		 Criteria Provided
Multiple Submitters
No Conflicts
 CA166645 rs_587782069

6 SubmittersRCV000130556RCV000239654RCV000255173RCV002498642
NM_000245.4(MET):c.406G>A (p.Val136Ile) SNV
Germline		 Chr7:116699490 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Renal cell carcinoma
not specified
Condition: not provided
Osteofibrous dysplasia
Papillary renal cell carcinoma type 1
Autosomal recessive nonsyndromic hearing loss 97
Hepatocellular carcinoma
Papillary renal cell carcinoma type 1
MET-related disorder
Breast carcinoma		 Criteria Provided
Conflicting Classifications
 CA167281 rs_199701987

13 SubmittersRCV000130870RCV001328509RCV003320572RCV000484898RCV000515234RCV000199439RCV003415953RCV001262296
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
Hepatocellular carcinoma
Osteofibrous dysplasia
Papillary renal cell carcinoma type 1
Autosomal recessive nonsyndromic hearing loss 97
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA192400 rs_786202310

5 SubmittersRCV000165054RCV001218524RCV002498817RCV003468731RCV004777608
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
Osteofibrous dysplasia
Autosomal recessive nonsyndromic hearing loss 97
Hepatocellular carcinoma
Papillary renal cell carcinoma type 1
Renal cell carcinoma
Condition: not provided
MET-related disorder
Autosomal recessive nonsyndromic hearing loss 97		 Criteria Provided
Conflicting Classifications
 CA188720 rs_374733251

10 SubmittersRCV000163595RCV000167933RCV000765920RCV001293448RCV001812140RCV003398834RCV003467280
NM_000245.4(MET):c.2825C>T (p.Ser942Leu) SNV
Germline		 Chr7:116771592 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Papillary renal cell carcinoma type 1
Renal cell carcinoma
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 97
not specified		 Criteria Provided
Conflicting Classifications
 CA195544 rs_375576430

6 SubmittersRCV000166311RCV000463889RCV001293426RCV001589036RCV003462209RCV004596092
NM_000245.4(MET):c.3274G>A (p.Val1092Ile) SNV
Germline		 Chr7:116777403 Pathogenic Hereditary cancer-predisposing syndrome
Papillary renal cell carcinoma type 1
Renal cell carcinoma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA193972 rs_786202724

3 SubmittersRCV000165679RCV000709041RCV001376633
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
Condition: not provided
not specified
Potocki-Lupski syndrome
Birt-Hogg-Dube syndrome
Familial spontaneous pneumothorax
Nonpapillary renal cell carcinoma
Colorectal cancer		 Criteria Provided
Conflicting Classifications
 CA188379 rs_760329266

8 SubmittersRCV000163471RCV000231877RCV001539507RCV002267903RCV002485010
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
Potocki-Lupski syndrome
Birt-Hogg-Dube syndrome
Familial spontaneous pneumothorax
Nonpapillary renal cell carcinoma
Colorectal cancer
Birt-Hogg-Dube syndrome 1		 Criteria Provided
Conflicting Classifications
 CA189480 rs_199889477

7 SubmittersRCV000163906RCV000529447RCV001544699RCV002492651RCV004567235
NM_144997.7(FLCN):c.139G>C (p.Glu47Gln) SNV
Germline		 Chr17:17227999 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Birt-Hogg-Dube syndrome
Familial spontaneous pneumothorax
Birt-Hogg-Dube syndrome
Colorectal cancer
Potocki-Lupski syndrome
Nonpapillary renal cell carcinoma		 Criteria Provided
Conflicting Classifications
 CA196505 rs_369115472

6 SubmittersRCV000166697RCV002280106RCV000465657RCV002492672
NM_000245.4(MET):c.1132G>A (p.Val378Ile) SNV
Germline		 Chr7:116700216 Conflicting classifications of pathogenicity Papillary renal cell carcinoma type 1
Renal cell carcinoma
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 97
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA334728 rs_749738523

7 SubmittersRCV000168398RCV001293437RCV001562203RCV003468833RCV001009954
NM_000245.4(MET):c.1715G>A (p.Ser572Asn) SNV
Germline		 Chr7:116755368 Conflicting classifications of pathogenicity Renal cell carcinoma
Papillary renal cell carcinoma type 1
Hereditary cancer-predisposing syndrome
not specified
MET-related disorder
Hepatoblastoma		 Criteria Provided
Conflicting Classifications
 CA334713 rs_199771406

10 SubmittersRCV001507175RCV000168390RCV000564000RCV000610933RCV003927559RCV001843487
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
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 97		 Criteria Provided
Conflicting Classifications
 CA334261 rs_45607832

7 SubmittersRCV000168093RCV001293451RCV001017689RCV002267924RCV002281988RCV003468824
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

14 SubmittersRCV000173138RCV000369522RCV000993276RCV001328309RCV003316074RCV003947459
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		 Criteria Provided
Conflicting Classifications
 CA337368 rs_45483396

5 SubmittersRCV000197671RCV001025145RCV001450055RCV001706186RCV003320598
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 SubmittersRCV000200572RCV001011655RCV001293439RCV003148673RCV003320597RCV003468909RCV004745271
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
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 97		 Criteria Provided
Conflicting Classifications
 CA337278 rs_752669237

6 SubmittersRCV000197534RCV000569392RCV001358794RCV003238734RCV004567437
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
Osteofibrous dysplasia
Hepatocellular carcinoma
Autosomal recessive nonsyndromic hearing loss 97
Papillary renal cell carcinoma type 1
not specified		 Criteria Provided
Conflicting Classifications
 CA349639 rs_369758288

6 SubmittersRCV000205486RCV001775668RCV002433900RCV002503800RCV003493494
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 SubmittersRCV000206041RCV000573151RCV002229176
NM_000551.4(VHL):c.464-2A>G SNV
Germline/somatic		 Chr3:10149785 Pathogenic Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
Chuvash polycythemia
Condition: not provided
Pheochromocytoma
Von Hippel-Lindau syndrome
Chuvash polycythemia
Nonpapillary renal cell carcinoma
VHL-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA357046 rs_5030816

6 SubmittersRCV000208810RCV000216737RCV000824251RCV001542804RCV001535844RCV004725066
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
Von Hippel-Lindau syndrome
Nonpapillary renal cell carcinoma
Chuvash polycythemia
VHL-related disorder		 Criteria Provided
Conflicting Classifications
 CA041601 rs_561874453

11 SubmittersRCV000208797RCV000236099RCV000565491RCV000631260RCV002485365RCV003462397RCV003422117
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
Colorectal cancer
Birt-Hogg-Dube syndrome
Familial spontaneous pneumothorax
Nonpapillary renal cell carcinoma
Potocki-Lupski syndrome		 Criteria Provided
Conflicting Classifications
 CA8415911 rs_201056799

4 SubmittersRCV000213870RCV000701876RCV001555199RCV002494583
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
Birt-Hogg-Dube syndrome
Potocki-Lupski syndrome
Familial spontaneous pneumothorax
Colorectal cancer
Nonpapillary renal cell carcinoma
Condition: not provided
Birt-Hogg-Dube syndrome 1		 Criteria Provided
Conflicting Classifications
 CA8416016 rs_199786696

6 SubmittersRCV000223022RCV000687348RCV002485418RCV003128597RCV004786575
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
Nonpapillary renal cell carcinoma
Familial spontaneous pneumothorax
Carcinoma of colon
Birt-Hogg-Dube syndrome
Potocki-Lupski syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA8416321 rs_758175953

12 SubmittersRCV000218992RCV000239675RCV000255322RCV000506237RCV000762981
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
not specified
Nonpapillary renal cell carcinoma
Chuvash polycythemia
Pheochromocytoma
Von Hippel-Lindau syndrome		 Criteria Provided
Conflicting Classifications
 CA040825 rs_578091032

9 SubmittersRCV000228663RCV000236708RCV000411808RCV000562501RCV002307459RCV002487052
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
Condition: not provided
Nonpapillary renal cell carcinoma
Chuvash polycythemia
Pheochromocytoma
Von Hippel-Lindau syndrome		 Criteria Provided
Conflicting Classifications
 CA039640 rs_757781272

8 SubmittersRCV000230639RCV000663291RCV001012878RCV003151759RCV002500764
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
Potocki-Lupski syndrome
Colorectal cancer
Birt-Hogg-Dube syndrome
Nonpapillary renal cell carcinoma
Familial spontaneous pneumothorax
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10583456 rs_878855219

4 SubmittersRCV000232477RCV001024947RCV002487093RCV004725120
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
Potocki-Lupski syndrome
Colorectal cancer
Birt-Hogg-Dube syndrome
Nonpapillary renal cell carcinoma
Familial spontaneous pneumothorax
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA8416522 rs_749758787

6 SubmittersRCV000229497RCV000380278RCV001027381RCV002500821RCV003151763
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 SubmittersRCV000236379RCV000568824RCV001328504RCV001785527RCV003463705
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
Autosomal recessive nonsyndromic hearing loss 97		 Criteria Provided
Conflicting Classifications
 CA4448665 rs_752641437

4 SubmittersRCV000236470RCV000560927RCV002291612RCV004567793
NM_000245.4(MET):c.1336A>G (p.Ile446Val) SNV
Germline		 Chr7:116731803 Conflicting classifications of pathogenicity Renal cell carcinoma
Hereditary cancer-predisposing syndrome
Hepatocellular carcinoma
Osteofibrous dysplasia
Papillary renal cell carcinoma type 1
Autosomal recessive nonsyndromic hearing loss 97
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA4448135 rs_779022887

4 SubmittersRCV000239364RCV000574879RCV002487111RCV003114412
NM_144997.7(FLCN):c.1429C>T (p.Arg477Ter) SNV
Germline		 Chr17:17215188 Pathogenic Birt-Hogg-Dube syndrome
Condition: not provided
not specified
Hereditary cancer-predisposing syndrome
Carcinoma of colon
Familial spontaneous pneumothorax
Potocki-Lupski syndrome
Birt-Hogg-Dube syndrome
Nonpapillary renal cell carcinoma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10586252 rs_879255678

11 SubmittersRCV000239684RCV000256142RCV000507127RCV000567617RCV000762980
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
Condition: not provided
Potocki-Lupski syndrome
Colorectal cancer
Birt-Hogg-Dube syndrome
Nonpapillary renal cell carcinoma
Familial spontaneous pneumothorax		 Criteria Provided
Conflicting Classifications
 CA8416333 rs_753948488

5 SubmittersRCV000239701RCV000561577RCV001527887RCV002487112
NM_144997.7(FLCN):c.1062+2T>G SNV
Germline		 Chr17:17219017 Pathogenic Condition: not provided
Birt-Hogg-Dube syndrome
Hereditary cancer-predisposing syndrome
Potocki-Lupski syndrome
Nonpapillary renal cell carcinoma
Colorectal cancer
Birt-Hogg-Dube syndrome
Familial spontaneous pneumothorax		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10588640 rs_886039370

6 SubmittersRCV000254745RCV000812531RCV001009818RCV002479990
NM_000458.4(HNF1B):c.884G>A (p.Arg295His) SNV
Germline		 Chr17:37731756 Pathogenic/Likely pathogenic Condition: not provided
Renal cysts and diabetes syndrome
Type 2 diabetes mellitus
Nonpapillary renal cell carcinoma
Renal cysts and diabetes syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10605981

7 SubmittersRCV000713806RCV000787122RCV001535983
NM_000245.4(MET):c.1320A>G (p.Thr440=) SNV
Germline		 Chr7:116731787 Conflicting classifications of pathogenicity Papillary renal cell carcinoma type 1
Renal cell carcinoma
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA4448132 rs_763726060

3 SubmittersRCV000393162RCV001519329RCV002379246
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 SubmittersRCV000366689RCV003761942
NM_000245.4(MET):c.1693A>G (p.Ile565Val) SNV
Germline		 Chr7:116741017 Conflicting classifications of pathogenicity Papillary renal cell carcinoma type 1
Renal cell carcinoma
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA4448221 rs_745479104

3 SubmittersRCV000313310RCV001328510RCV002411253
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

4 SubmittersRCV000288231RCV000840849RCV001420985RCV002328874
NM_000245.4(MET):c.1174C>A (p.Pro392Thr) SNV
Germline		 Chr7:116700258 Conflicting classifications of pathogenicity Papillary renal cell carcinoma type 1
Renal cell carcinoma
Papillary renal cell carcinoma type 1
Autosomal recessive nonsyndromic hearing loss 97
Osteofibrous dysplasia
Hepatocellular carcinoma
Hereditary cancer-predisposing syndrome
Autosomal recessive nonsyndromic hearing loss 97
not specified		 Criteria Provided
Conflicting Classifications
 CA10628009 rs_886061943

6 SubmittersRCV000335138RCV001312205RCV000765918RCV000570504RCV003470320RCV003320637
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

3 SubmittersRCV000327973RCV001485226RCV004596169
NM_144997.7(FLCN):c.1430G>A (p.Arg477Gln) SNV
Germline		 Chr17:17215187 Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome
Spontaneous pneumothorax
Condition: not provided
Nonpapillary renal cell carcinoma
Familial spontaneous pneumothorax
Carcinoma of colon
Birt-Hogg-Dube syndrome
Potocki-Lupski syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA8416005 rs_748878853

8 SubmittersRCV000266163RCV000379332RCV000414396RCV000765332RCV001011546
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
Von Hippel-Lindau syndrome
Pheochromocytoma
Nonpapillary renal cell carcinoma
Chuvash polycythemia
Chuvash polycythemia		 Criteria Provided
Conflicting Classifications
 CA16043991 rs_1057519261

9 SubmittersRCV000415643RCV000476548RCV001016912RCV001584111RCV002488864RCV003463824
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
Chuvash polycythemia
Von Hippel-Lindau syndrome
Pheochromocytoma
Nonpapillary renal cell carcinoma
Von Hippel-Lindau syndrome		 Criteria Provided
Conflicting Classifications
 CA040275 rs_367594943

6 SubmittersRCV000458083RCV001019385RCV002269278RCV002489087RCV004001987
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
Chuvash polycythemia
Von Hippel-Lindau syndrome
Pheochromocytoma
Nonpapillary renal cell carcinoma		 Criteria Provided
Conflicting Classifications
 CA040676 rs_375401722

8 SubmittersRCV000462284RCV000479517RCV000708764RCV002272247RCV002489086
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 SubmittersRCV000459574RCV000574997RCV001584167RCV003493586RCV003153641RCV003470496
NM_000245.4(MET):c.2971C>T (p.Pro991Ser) SNV
Germline		 Chr7:116771932 Conflicting classifications of pathogenicity Papillary renal cell carcinoma type 1
Hereditary cancer-predisposing syndrome
Renal cell carcinoma
Osteofibrous dysplasia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA4448619 rs_768678989

5 SubmittersRCV000476062RCV001018130RCV001312218RCV001788226RCV001755706
NM_000245.4(MET):c.143C>G (p.Ala48Gly) SNV
Germline		 Chr7:116699227 Conflicting classifications of pathogenicity Renal cell carcinoma
Autosomal recessive nonsyndromic hearing loss 97
Osteofibrous dysplasia
Papillary renal cell carcinoma type 1
Hepatocellular carcinoma
Hereditary cancer-predisposing syndrome
Autosomal recessive nonsyndromic hearing loss 97		 Criteria Provided
Conflicting Classifications
 CA4447947 rs_80256822

4 SubmittersRCV000458343RCV000765914RCV002393162RCV003463962
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
Potocki-Lupski syndrome
Birt-Hogg-Dube syndrome
Familial spontaneous pneumothorax
Colorectal cancer
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA16615122 rs_898441209

5 SubmittersRCV000462755RCV000492271RCV002481438RCV002480409
NM_144997.7(FLCN):c.249+2C>T SNV
Germline		 Chr17:17227887 Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome
Birt-Hogg-Dube syndrome
Familial spontaneous pneumothorax
Nonpapillary renal cell carcinoma
Potocki-Lupski syndrome
Colorectal cancer
Hereditary cancer-predisposing syndrome
Condition: not provided
Birt-Hogg-Dube syndrome 1		 Criteria Provided
Conflicting Classifications
 CA16615123 rs_939223011

6 SubmittersRCV000456150RCV002489055RCV003298490RCV003477973RCV004022725
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
not specified
FLCN-related disorder
Potocki-Lupski syndrome
Colorectal cancer
Birt-Hogg-Dube syndrome
Familial spontaneous pneumothorax
Nonpapillary renal cell carcinoma
Birt-Hogg-Dube syndrome 1		 Criteria Provided
Conflicting Classifications
 CA8416514 rs_139418842

8 SubmittersRCV000469363RCV001017432RCV001558005RCV001844165RCV003409629RCV002489056RCV004787729
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
Potocki-Lupski syndrome
Condition: not provided
Colorectal cancer
Potocki-Lupski syndrome
Nonpapillary renal cell carcinoma
Birt-Hogg-Dube syndrome
Familial spontaneous pneumothorax
not specified		 Criteria Provided
Conflicting Classifications
 CA8416388 rs_774358971

7 SubmittersRCV000467918RCV001023971RCV001198849RCV001568283RCV002480410RCV003321612
NM_000551.4(VHL):c.614G>A (p.Arg205His) SNV
Germline		 Chr3:10149937 Conflicting classifications of pathogenicity Condition: not provided
Von Hippel-Lindau syndrome
Chuvash polycythemia
Pheochromocytoma
Von Hippel-Lindau syndrome
Chuvash polycythemia
Nonpapillary renal cell carcinoma
Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome		 Criteria Provided
Conflicting Classifications
 CA041951 rs_777130107

6 SubmittersRCV000481472RCV000631259RCV000764460RCV001024946RCV004787783
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
Colorectal cancer
Familial spontaneous pneumothorax
Potocki-Lupski syndrome
Nonpapillary renal cell carcinoma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA398529920 rs_1131690833

4 SubmittersRCV000492176RCV000690635RCV001584204RCV002496889
NM_000551.4(VHL):c.31G>C (p.Ala11Pro) SNV
Germline		 Chr3:10141878 Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome
Chuvash polycythemia
Pheochromocytoma
Von Hippel-Lindau syndrome
Nonpapillary renal cell carcinoma
Chuvash polycythemia
Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome		 Criteria Provided
Conflicting Classifications
 CA351747101 rs_1236604706

4 SubmittersRCV000554589RCV000764457RCV001019152RCV004791523
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
Autosomal recessive nonsyndromic hearing loss 97
Papillary renal cell carcinoma type 1
Hepatocellular carcinoma
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 97
MET-related disorder		 Criteria Provided
Conflicting Classifications
 CA4447946 rs_374050750

7 SubmittersRCV000532694RCV000569043RCV000764682RCV001547448RCV003470697RCV004745439
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 SubmittersRCV000540846RCV001293431RCV002456035RCV003151783RCV003409759RCV003459165
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		 Criteria Provided
Conflicting Classifications
 CA4448351 rs_376459715

9 SubmittersRCV000532305RCV000592240RCV001013919RCV001328521RCV003153672RCV003459163
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
Autosomal recessive nonsyndromic hearing loss 97
Papillary renal cell carcinoma type 1
Hepatocellular carcinoma
MET-related disorder
Papillary renal cell carcinoma type 1		 Criteria Provided
Conflicting Classifications
 CA4448549 rs_199502137

7 SubmittersRCV000541456RCV001016448RCV001591188RCV002476079RCV003392361RCV003444568
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
Condition: not provided
Renal cell carcinoma		 Criteria Provided
Conflicting Classifications
 CA4448120 rs_375391602

4 SubmittersRCV000527361RCV000570024RCV001576084RCV001312224
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 SubmittersRCV000526482RCV000570458RCV001293430RCV001775839RCV003470699
NM_144997.7(FLCN):c.1432+8C>T SNV
Germline		 Chr17:17215177 Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome
Nonpapillary renal cell carcinoma
Potocki-Lupski syndrome
Birt-Hogg-Dube syndrome
Familial spontaneous pneumothorax
Colorectal cancer
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA8416000 rs_201898226

3 SubmittersRCV000535879RCV002506320RCV003478136
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
Nonpapillary renal cell carcinoma
Potocki-Lupski syndrome
Birt-Hogg-Dube syndrome
Familial spontaneous pneumothorax
Colorectal cancer
Birt-Hogg-Dube syndrome 1		 Criteria Provided
Conflicting Classifications
 CA8416374 rs_774491699

4 SubmittersRCV000545339RCV000565519RCV002476128RCV004568773
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
Familial spontaneous pneumothorax
Birt-Hogg-Dube syndrome
Potocki-Lupski syndrome
Colorectal cancer
Nonpapillary renal cell carcinoma		 Criteria Provided
Conflicting Classifications
 CA8416015 rs_150439088

6 SubmittersRCV000558097RCV001011243RCV001775852RCV002476127
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
Familial spontaneous pneumothorax
Birt-Hogg-Dube syndrome
Potocki-Lupski syndrome
Colorectal cancer
Nonpapillary renal cell carcinoma
Birt-Hogg-Dube syndrome 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA8416100 rs_766801011

6 SubmittersRCV000530248RCV002350218RCV002497102RCV004787855RCV005000150
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
Nonpapillary renal cell carcinoma
Potocki-Lupski syndrome
Birt-Hogg-Dube syndrome
Familial spontaneous pneumothorax
Colorectal cancer		 Criteria Provided
Conflicting Classifications
 CA288317129 rs_1040675580

5 SubmittersRCV000553117RCV001023371RCV001574889RCV002483392
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
Familial spontaneous pneumothorax
Birt-Hogg-Dube syndrome
Potocki-Lupski syndrome
Colorectal cancer
Nonpapillary renal cell carcinoma
Condition: not provided
Birt-Hogg-Dube syndrome 1		 Criteria Provided
Conflicting Classifications
 CA8416347 rs_558699420

7 SubmittersRCV000527374RCV001025165RCV002490994RCV003126810RCV004787857
NM_144997.7(FLCN):c.451G>A (p.Val151Met) SNV
Germline		 Chr17:17224089 Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome
Condition: not provided
Birt-Hogg-Dube syndrome
Carcinoma of colon
Nonpapillary renal cell carcinoma
Familial spontaneous pneumothorax
Potocki-Lupski syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA8416395 rs_147164515

7 SubmittersRCV000532463RCV000658774RCV000765334RCV001022629
NM_144997.7(FLCN):c.396+6C>T SNV
Germline		 Chr17:17226170 Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome
Nonpapillary renal cell carcinoma
Potocki-Lupski syndrome
Birt-Hogg-Dube syndrome
Familial spontaneous pneumothorax
Colorectal cancer
Birt-Hogg-Dube syndrome 1		 Criteria Provided
Conflicting Classifications
 CA8416444 rs_747922795

3 SubmittersRCV000538911RCV002483391RCV004023834
NM_000245.4(MET):c.1099A>G (p.Ile367Val) SNV
Germline		 Chr7:116700183 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Renal cell carcinoma
Papillary renal cell carcinoma type 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA4448069 rs_774146015

5 SubmittersRCV000574339RCV000628727RCV001788290RCV002509445
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 SubmittersRCV000564467RCV000709031RCV001293434RCV003317290
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 SubmittersRCV000569128RCV000987954RCV001320954RCV004596283
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		 Criteria Provided
Conflicting Classifications
 CA4448031 rs_757427533

3 SubmittersRCV000572749RCV000628723RCV001293446
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
Autosomal recessive nonsyndromic hearing loss 97
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA4448034 rs_368144654

5 SubmittersRCV000564380RCV000628765RCV002483539RCV003465263RCV003237941
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
Potocki-Lupski syndrome
Nonpapillary renal cell carcinoma
Colorectal cancer
Birt-Hogg-Dube syndrome
Familial spontaneous pneumothorax		 Criteria Provided
Conflicting Classifications
 CA8416341 rs_769250170

3 SubmittersRCV000560997RCV001059272RCV002491135
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 1
Familial spontaneous pneumothorax
Nonpapillary renal cell carcinoma
Colorectal cancer
Birt-Hogg-Dube syndrome
Potocki-Lupski syndrome		 Criteria Provided
Conflicting Classifications
 CA8416512 rs_556510460

8 SubmittersRCV000564102RCV001171925RCV001246934RCV004791597RCV002483538
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
Potocki-Lupski syndrome
Nonpapillary renal cell carcinoma
Colorectal cancer
Birt-Hogg-Dube syndrome
Familial spontaneous pneumothorax		 Criteria Provided
Conflicting Classifications
 CA8415923 rs_775149348

6 SubmittersRCV000570961RCV000635566RCV002268200RCV002461370RCV002483537
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
Potocki-Lupski syndrome
Nonpapillary renal cell carcinoma
Colorectal cancer
Birt-Hogg-Dube syndrome
Familial spontaneous pneumothorax		 Criteria Provided
Conflicting Classifications
 CA8416073 rs_375082054

4 SubmittersRCV000567009RCV000812782RCV001755958RCV002497214
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
Potocki-Lupski syndrome
Nonpapillary renal cell carcinoma
Colorectal cancer
Birt-Hogg-Dube syndrome
Familial spontaneous pneumothorax
Birt-Hogg-Dube syndrome 1		 Criteria Provided
Conflicting Classifications
 CA398533958 rs_1194767470

4 SubmittersRCV000570714RCV000692706RCV002491136RCV004569267
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
Birt-Hogg-Dube syndrome
Nonpapillary renal cell carcinoma
Familial spontaneous pneumothorax
Potocki-Lupski syndrome
Colorectal cancer
not specified
FLCN-related disorder
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA8416141 rs_557336321

9 SubmittersRCV000564803RCV000691604RCV001127833RCV002483536RCV003321681RCV003409849RCV003478283
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
Nonpapillary renal cell carcinoma
Familial spontaneous pneumothorax
Potocki-Lupski syndrome
Colorectal cancer		 Criteria Provided
Conflicting Classifications
 CA8416320 rs_745645385

4 SubmittersRCV000561400RCV000635571RCV002506383
NM_000551.4(VHL):c.-10C>T SNV
Germline		 Chr3:10141838 Conflicting classifications of pathogenicity not specified
Chuvash polycythemia
Von Hippel-Lindau syndrome
Pheochromocytoma
Nonpapillary renal cell carcinoma
Von Hippel-Lindau syndrome		 Criteria Provided
Conflicting Classifications
 CA541213514 rs_1192379474

3 SubmittersRCV000609650RCV002498924RCV004802290
NM_000551.4(VHL):c.298A>G (p.Thr100Ala) SNV
Germline		 Chr3:10142145 Conflicting classifications of pathogenicity Condition: not provided
Von Hippel-Lindau syndrome
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
 CA040192 rs_745901803

8 SubmittersRCV000997987RCV000631270RCV002255483RCV002477380RCV004788047
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		 Criteria Provided
Conflicting Classifications
 CA4448040 rs_776014448

4 SubmittersRCV000628763RCV001312226RCV005000399RCV002448925
NM_000245.4(MET):c.4016C>T (p.Ala1339Val) SNV
Germline		 Chr7:116795967 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
 CA369118216 rs_1453842331

6 SubmittersRCV000628762RCV001021803RCV003232061RCV003153770RCV003459488
NM_000245.4(MET):c.1306G>A (p.Glu436Lys) SNV
Germline		 Chr7:116731773 Conflicting classifications of pathogenicity Papillary renal cell carcinoma type 1
Renal cell carcinoma
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA368972893 rs_200740468

3 SubmittersRCV000628755RCV001312217RCV001010899
NM_000245.4(MET):c.1862C>T (p.Thr621Ile) SNV
Germline		 Chr7:116755515 Conflicting classifications of pathogenicity Renal cell carcinoma
Hereditary cancer-predisposing syndrome
Condition: not provided
Osteofibrous dysplasia
Papillary renal cell carcinoma type 1
Hepatocellular carcinoma
Autosomal recessive nonsyndromic hearing loss 97
not specified		 Criteria Provided
Conflicting Classifications
 CA4448286 rs_375951814

7 SubmittersRCV000628759RCV001013433RCV001756034RCV002483765RCV004596305
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 SubmittersRCV000628747RCV001015499RCV002477372
NM_000245.4(MET):c.4034T>C (p.Ile1345Thr) SNV
Germline		 Chr7:116795985 Conflicting classifications of pathogenicity Renal cell carcinoma
Osteofibrous dysplasia
Autosomal recessive nonsyndromic hearing loss 97
Papillary renal cell carcinoma type 1
Hepatocellular carcinoma
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Autosomal recessive nonsyndromic hearing loss 97
MET-related disorder		 Criteria Provided
Conflicting Classifications
 CA4448820 rs_768188910

7 SubmittersRCV000628769RCV000765921RCV001021839RCV001766335RCV002268220RCV003459489RCV004745512
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
Birt-Hogg-Dube syndrome
Potocki-Lupski syndrome
Nonpapillary renal cell carcinoma
Familial spontaneous pneumothorax
Colorectal cancer
Condition: not provided
FLCN-related disorder
Birt-Hogg-Dube syndrome 1		 Criteria Provided
Conflicting Classifications
 CA8416508 rs_778275358

7 SubmittersRCV000635534RCV001012999RCV002499066RCV003223660RCV004745521RCV004788052
NM_144997.7(FLCN):c.952G>A (p.Glu318Lys) SNV
Germline		 Chr17:17219129 Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome
Birt-Hogg-Dube syndrome
Potocki-Lupski syndrome
Nonpapillary renal cell carcinoma
Familial spontaneous pneumothorax
Colorectal cancer
Condition: not provided
Birt-Hogg-Dube syndrome 1
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA8416189 rs_756787389

5 SubmittersRCV000635565RCV002499067RCV003238793RCV004788054RCV001019466
NM_000551.3(VHL):c.-73C>T SNV
Germline		 Chr3:10141775 Conflicting classifications of pathogenicity Pheochromocytoma
Nonpapillary renal cell carcinoma
Chuvash polycythemia
Von Hippel-Lindau syndrome
Von Hippel-Lindau syndrome
not specified		 Criteria Provided
Conflicting Classifications
 rs_1034934219

4 SubmittersRCV000764456RCV001148529RCV001796976
NM_000245.4(MET):c.2674G>A (p.Val892Ile) SNV
Germline		 Chr7:116769735 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		 Criteria Provided
Conflicting Classifications
 rs_761243391

5 SubmittersRCV001016409RCV000688057RCV001766471RCV002291687RCV003465564
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
Papillary renal cell carcinoma type 1
MET-related disorder
Autosomal recessive nonsyndromic hearing loss 97		 Criteria Provided
Conflicting Classifications
 rs_760278126

9 SubmittersRCV000688808RCV000765915RCV001026638RCV001797126RCV002291688RCV003953235RCV003465566
NM_144997.7(FLCN):c.86T>C (p.Leu29Pro) SNV
Germline		 Chr17:17228052 Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome
Birt-Hogg-Dube syndrome
Potocki-Lupski syndrome
Nonpapillary renal cell carcinoma
Familial spontaneous pneumothorax
Colorectal cancer
Birt-Hogg-Dube syndrome 1
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_150051278

5 SubmittersRCV000687044RCV002485606RCV004788117RCV002369833RCV001556472
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
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1028165414

3 SubmittersRCV000709028RCV001339744RCV002343581
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
 rs_35601148

4 SubmittersRCV000709030RCV001293443RCV002369977RCV004569399
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
 rs_1253878709

3 SubmittersRCV000709032RCV001312214RCV004026761
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
 rs_1337305891

2 SubmittersRCV000709037RCV003762862
NM_000458.4(HNF1B):c.544C>T (p.Gln182Ter) SNV
Germline		 Chr17:37739440 Pathogenic Condition: not provided
Renal cysts and diabetes syndrome
Maturity onset diabetes mellitus in young
Type 2 diabetes mellitus
Renal cysts and diabetes syndrome
Nonpapillary renal cell carcinoma
Type 2 diabetes mellitus
HNF1B-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts

11 SubmittersRCV000713802RCV001281137RCV002343589RCV002499296RCV003227842RCV004753005
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

3 SubmittersRCV000787125RCV002493434RCV003106062
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
Type 2 diabetes mellitus
Renal cysts and diabetes syndrome
Nonpapillary renal cell carcinoma		 Criteria Provided
Multiple Submitters
No Conflicts

8 SubmittersRCV001281300RCV001328307RCV001785725RCV002501024
NM_000458.4(HNF1B):c.232G>T (p.Glu78Ter) SNV
Germline		 Chr17:37744653 Pathogenic Renal cysts and diabetes syndrome
Type 2 diabetes mellitus
Type 2 diabetes mellitus
Renal cysts and diabetes syndrome
Nonpapillary renal cell carcinoma		 Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV000787244RCV001029833RCV002501025
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
Type 2 diabetes mellitus
Renal cysts and diabetes syndrome
Nonpapillary renal cell carcinoma
Condition: not provided		 Criteria Provided
Conflicting Classifications

4 SubmittersRCV000787256RCV001248883RCV002487621RCV002535751
NM_000458.4(HNF1B):c.809+1G>A SNV
Germline		 Chr17:37733556 Pathogenic/Likely pathogenic Renal cysts and diabetes syndrome
Type 2 diabetes mellitus
Renal cysts and diabetes syndrome
Nonpapillary renal cell carcinoma
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV000787142RCV002487620RCV003546602
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
 rs_1584941533

2 SubmittersRCV000818405RCV001358785
NM_000245.4(MET):c.3091A>G (p.Met1031Val) SNV
Germline		 Chr7:116774943 Conflicting classifications of pathogenicity Papillary renal cell carcinoma type 1
Hereditary cancer-predisposing syndrome
Intellectual disability
Renal cell carcinoma
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_45564937

5 SubmittersRCV000815970RCV001018806RCV001252072RCV001328511RCV003222143
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		 Criteria Provided
Conflicting Classifications
 rs_773898036

4 SubmittersRCV000823281RCV002254714RCV002332721RCV002464330
NM_144997.7(FLCN):c.1363G>A (p.Glu455Lys) SNV
Germline		 Chr17:17215254 Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
FLCN-related disorder
Familial spontaneous pneumothorax
Nonpapillary renal cell carcinoma
Colorectal cancer
Potocki-Lupski syndrome
Birt-Hogg-Dube syndrome
Birt-Hogg-Dube syndrome 1		 Criteria Provided
Conflicting Classifications
 rs_759637055

6 SubmittersRCV000802282RCV002386430RCV002259371RCV003908098RCV002477837RCV004569584
NM_144997.7(FLCN):c.1337G>A (p.Arg446His) SNV
Germline		 Chr17:17215280 Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Nonpapillary renal cell carcinoma
Familial spontaneous pneumothorax
Colorectal cancer
Birt-Hogg-Dube syndrome
Potocki-Lupski syndrome		 Criteria Provided
Conflicting Classifications
 rs_750104212

4 SubmittersRCV000809356RCV001010835RCV002307624RCV002501096
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
Condition: not provided
not specified
Birt-Hogg-Dube syndrome
Nonpapillary renal cell carcinoma
Familial spontaneous pneumothorax
Potocki-Lupski syndrome
Colorectal cancer
FLCN-related disorder		 Criteria Provided
Conflicting Classifications
 rs_762370059

7 SubmittersRCV000819183RCV001027085RCV001824384RCV002268311RCV002507435RCV003892754
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
 rs_1225303075

4 SubmittersRCV000871402RCV001420969RCV001585834RCV002352580
NM_004958.4(MTOR):c.3026G>A (p.Arg1009Gln) SNV
Unknown		 Chr1:11228672 Pathogenic Papillary renal cell carcinoma type 1 Criteria Provided
Single Submitter
 rs_778855567

1 SubmittersRCV000986236
NM_004958.4(MTOR):c.889G>A (p.Asp297Asn) SNV
Germline		 Chr1:11248046 Conflicting classifications of pathogenicity Papillary renal cell carcinoma type 1
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_141936187

5 SubmittersRCV000986237RCV001815014RCV001519677
NM_000245.4(MET):c.1627G>A (p.Asp543Asn) SNV
Germline		 Chr7:116740951 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Renal cell carcinoma
Autosomal recessive nonsyndromic hearing loss 97
Papillary renal cell carcinoma type 1		 Criteria Provided
Conflicting Classifications
 rs_763991073

4 SubmittersRCV001012479RCV001860711RCV003467603RCV003153883
NM_144997.7(FLCN):c.734C>A (p.Thr245Lys) SNV
Germline		 Chr17:17222546 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Birt-Hogg-Dube syndrome
Condition: not provided
Nonpapillary renal cell carcinoma
Colorectal cancer
Birt-Hogg-Dube syndrome
Potocki-Lupski syndrome
Familial spontaneous pneumothorax
Birt-Hogg-Dube syndrome 1		 Criteria Provided
Conflicting Classifications
 rs_371401039

6 SubmittersRCV001026310RCV001247341RCV001759715RCV002481835RCV004570066
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		 Criteria Provided
Conflicting Classifications
 rs_771272439

3 SubmittersRCV001052826RCV001358788RCV002393269RCV003462554
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
Familial spontaneous pneumothorax
Potocki-Lupski syndrome
Birt-Hogg-Dube syndrome
Colorectal cancer
Ovarian cancer		 Criteria Provided
Conflicting Classifications
 rs_1407566775

4 SubmittersRCV001056721RCV002348418RCV002505612RCV003153913
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
Nonpapillary renal cell carcinoma
Colorectal cancer
Birt-Hogg-Dube syndrome
Potocki-Lupski syndrome
Familial spontaneous pneumothorax
Condition: not provided
FLCN-related disorder		 Criteria Provided
Conflicting Classifications
 rs_779900587

5 SubmittersRCV001048408RCV002409416RCV002481942RCV003442168RCV003393808
NM_000551.4(VHL):c.340+578C>T SNV
Germline		 Chr3:10142765 Conflicting classifications of pathogenicity Chuvash polycythemia
Von Hippel-Lindau syndrome
not specified
Pheochromocytoma
Chuvash polycythemia
Von Hippel-Lindau syndrome
Nonpapillary renal cell carcinoma
Von Hippel-Lindau syndrome		 Criteria Provided
Conflicting Classifications
 rs_139622356

5 SubmittersRCV001053915RCV003320798RCV002497415RCV003316825
NM_144997.7(FLCN):c.1300+4C>T SNV
Germline		 Chr17:17216376 Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome
Nonpapillary renal cell carcinoma
Familial spontaneous pneumothorax
Potocki-Lupski syndrome
Birt-Hogg-Dube syndrome
Colorectal cancer
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1207963576

3 SubmittersRCV001063632RCV002479376RCV004030499
NM_000245.4(MET):c.2673C>T (p.Ala891=) SNV
Germline		 Chr7:116769734 Conflicting classifications of pathogenicity Papillary renal cell carcinoma type 1
Renal cell carcinoma
not specified
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_561131509

4 SubmittersRCV001161417RCV001503608RCV003320806RCV002429783
NM_000245.4(MET):c.4122C>A (p.Asn1374Lys) SNV
Germline		 Chr7:116796073 Conflicting classifications of pathogenicity Renal cell carcinoma
Condition: not provided
Hereditary cancer-predisposing syndrome
Papillary renal cell carcinoma type 1
Hepatocellular carcinoma
Osteofibrous dysplasia
Autosomal recessive nonsyndromic hearing loss 97		 Criteria Provided
Conflicting Classifications
 rs_370767911

5 SubmittersRCV001247842RCV004720817RCV002259098RCV002480850
NM_000551.4(VHL):c.88G>C (p.Gly30Arg) SNV
Germline		 Chr3:10141935 Conflicting classifications of pathogenicity Chuvash polycythemia
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Chuvash polycythemia
Pheochromocytoma
Von Hippel-Lindau syndrome
Nonpapillary renal cell carcinoma
Von Hippel-Lindau syndrome		 Criteria Provided
Conflicting Classifications
 rs_913104799

4 SubmittersRCV001351817RCV002377495RCV002486456RCV004005245
NM_144997.7(FLCN):c.1709G>T (p.Arg570Leu) SNV
Germline		 Chr17:17213686 Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome
Hereditary cancer-predisposing syndrome
Colorectal cancer
Birt-Hogg-Dube syndrome
Nonpapillary renal cell carcinoma
Familial spontaneous pneumothorax
Potocki-Lupski syndrome
Birt-Hogg-Dube syndrome 1		 Criteria Provided
Conflicting Classifications
 rs_201056799

4 SubmittersRCV001347686RCV002404819RCV002493791RCV004570844
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
 rs_2116992551

3 SubmittersRCV001829264RCV002545205RCV002440897
NM_000458.4(HNF1B):c.634C>T (p.Gln212Ter) SNV
Germline		 Chr17:37733732 Pathogenic/Likely pathogenic Condition: not provided
Type 2 diabetes mellitus
Renal cysts and diabetes syndrome
Nonpapillary renal cell carcinoma		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2147553451

2 SubmittersRCV001953701RCV002492130
NM_000458.4(HNF1B):c.345-2A>G SNV
Germline		 Chr17:37739641 Likely pathogenic Renal cysts and diabetes syndrome
Type 2 diabetes mellitus
Renal cysts and diabetes syndrome
Nonpapillary renal cell carcinoma		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003444161RCV004796809