Total 44 pathogenic variants reported for Osteofibrous dysplasia 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
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 SubmittersRCV000014901RCV000079490RCV001376564RCV002321481RCV003407332RCV005394153

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 SubmittersRCV000034528RCV000121339RCV000123119RCV000131706RCV001507128RCV003914903RCV005394192

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 SubmittersRCV000034529RCV000121340RCV000123120RCV000163261RCV000203290RCV001507182RCV002227927RCV003891465RCV005394193

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 SubmittersRCV000034532RCV000079496RCV000119201RCV000129671RCV001507196RCV005394194

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 SubmittersRCV000034535RCV000123136RCV000563453RCV001507142RCV000599960RCV005394196RCV003944878

NM_000245.4(MET):c.103A>T (p.Met35Leu) SNV
Germline
Chr7:116699187 Conflicting classifications of pathogenicity not specified
Hereditary cancer-predisposing syndrome
Renal cell carcinoma
Osteofibrous dysplasia
Hereditary cancer
Condition: not provided
Criteria Provided
Conflicting Classifications
CA160424 rs_375353223

7 SubmittersRCV000121342RCV000567367RCV001391320RCV001292685RCV003492526RCV001548349

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 SubmittersRCV000164064RCV001534185RCV001312227RCV005246658RCV002228447RCV005031633RCV003492548

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 SubmittersRCV000130870RCV000199439RCV000484898RCV000515234RCV001262296RCV001328509RCV003415953RCV003320572RCV005394482RCV005235038

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 SubmittersRCV000165054RCV001218524RCV003468731RCV004777608RCV002498817

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 SubmittersRCV000163595RCV000167933RCV000765920RCV001293448RCV005031678RCV003398834RCV003467280RCV001812140

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 SubmittersRCV000166311RCV003462209RCV001293426RCV005042337RCV001589036RCV004596092RCV005235073

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 SubmittersRCV000168398RCV003468833RCV001293437RCV001562203RCV001009954RCV005600798RCV005396501

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 SubmittersRCV000197671RCV001025145RCV001450055RCV001706186RCV003320598RCV005396614

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 SubmittersRCV000205486RCV001775668RCV002433900RCV003493494RCV002503800

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 SubmittersRCV000205567RCV001775670RCV002267939RCV002256115RCV005396639

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 SubmittersRCV000235673RCV000573538RCV005044500RCV003225052

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 SubmittersRCV000239364RCV000574879RCV003114412RCV002487111

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 SubmittersRCV000335138RCV000570504RCV000765918RCV001312205RCV003470320RCV003320637

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 SubmittersRCV000476062RCV001755706RCV001788226RCV001018130RCV001312218

NM_000245.4(MET):c.2318C>T (p.Pro773Leu) SNV
Germline
Chr7:116759444 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Osteofibrous dysplasia
Renal cell carcinoma
Condition: not provided
Hereditary cancer
Autosomal recessive nonsyndromic hearing loss 97
MET-related disorder
Criteria Provided
Conflicting Classifications
CA4448450 rs_771333219

11 SubmittersRCV000572470RCV001292908RCV001293447RCV001566122RCV003492062RCV003470498RCV004745408

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 SubmittersRCV000458343RCV000765914RCV002393162RCV003463962

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 SubmittersRCV000472109RCV001022049RCV003223643RCV005034001RCV003463961

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 SubmittersRCV000532694RCV000569043RCV000764682RCV001547448RCV003470697RCV004745439RCV005248095

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 SubmittersRCV000541456RCV001016448RCV001591188RCV002476079RCV003392361RCV003444568

NM_000245.4(MET):c.1643C>T (p.Ser548Leu) SNV
Germline
Chr7:116740967 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Renal cell carcinoma
Osteofibrous dysplasia
Condition: not provided
Criteria Provided
Conflicting Classifications
CA4448215 rs_767715328

5 SubmittersRCV000567437RCV000821666RCV001293997RCV004773023

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 SubmittersRCV000572542RCV000704365RCV001775899RCV002491137

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 SubmittersRCV000572749RCV000628723RCV001293446RCV005034131

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 SubmittersRCV000564380RCV000628765RCV002483539RCV003237941RCV003465263

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 SubmittersRCV001018441RCV002233914RCV005034203

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 SubmittersRCV000628763RCV001312226RCV005000399RCV002448925RCV005034202

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 SubmittersRCV001756034RCV000628759RCV001013433RCV002483765RCV004596305

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
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 SubmittersRCV000628769RCV001766335RCV000765921RCV001021839RCV002268220RCV003459489RCV004745512

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 SubmittersRCV000688808RCV000765915RCV001026638RCV001797126RCV003465566RCV002291688RCV003953235RCV005231270

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 SubmittersRCV000709028RCV001339744RCV005034330RCV002343581

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 SubmittersRCV001012533RCV001328501RCV003492139RCV003238200RCV005034331

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 SubmittersRCV002234741RCV002422742RCV005036166

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 SubmittersRCV000823670RCV002390710RCV004792541RCV005036229

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 SubmittersRCV000823281RCV002254714RCV002332721RCV002464330RCV005036228

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 SubmittersRCV001052826RCV001358788RCV002393269RCV003462554RCV005036345

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 SubmittersRCV001247842RCV002259098RCV002480850RCV004720817

NM_000245.4(MET):c.3842C>G (p.Ala1281Gly) SNV
Germline
Chr7:116795698 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Osteofibrous dysplasia
Renal cell carcinoma
Condition: not provided
Criteria Provided
Conflicting Classifications
CA4448789 rs_750337451

4 SubmittersRCV002366112RCV001292882RCV001871741RCV005432655

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 SubmittersRCV001321691RCV002341660RCV005040180

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 SubmittersRCV001776321RCV001885127RCV002359250RCV003154195RCV005397014