Total 1056 pathogenic variants reported for Retinoblastoma 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_000321.3(RB1):c.1960+2T>C SNV
Germline/somatic		 Chr13:48456351 Pathogenic Retinoblastoma Criteria Provided
Single Submitter
 CA026411 rs_587776780

2 SubmittersRCV000013945
NM_000321.3(RB1):c.1333C>T (p.Arg445Ter) SNV
Germline		 Chr13:48379594 Pathogenic Retinoblastoma
Hereditary cancer-predisposing syndrome
Small cell lung carcinoma
Retinoblastoma
Bone osteosarcoma
Malignant tumor of urinary bladder
Condition: not provided
Hereditary retinoblastoma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA026371 rs_3092891

8 SubmittersRCV000013946RCV000492544RCV002496351RCV002508188RCV006555024
NM_000321.3(RB1):c.1700C>T (p.Ser567Leu) SNV
Germline		 Chr13:48452997 Likely pathogenic Retinoblastoma
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA026396 rs_137853292

4 SubmittersRCV000013947RCV004700228
NM_000321.3(RB1):c.2359C>T (p.Arg787Ter) SNV
Germline		 Chr13:48465238 Pathogenic Retinoblastoma
Hereditary cancer-predisposing syndrome
Condition: not provided
Retinoblastoma
Malignant tumor of urinary bladder
Bone osteosarcoma
Small cell lung carcinoma
Hereditary retinoblastoma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA026438 rs_137853293

11 SubmittersRCV000013948RCV000492108RCV000760351RCV005007842RCV006554435
NM_000321.3(RB1):c.1049+1G>T SNV
Germline/somatic		 Chr13:48367604 Pathogenic/Likely pathogenic Retinoblastoma
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA026361 rs_587776782

3 SubmittersRCV000013950RCV002399322
NM_000321.3(RB1):c.1072C>T (p.Arg358Ter) SNV
Germline/somatic		 Chr13:48368549 Pathogenic Retinoblastoma
Hereditary cancer-predisposing syndrome
Condition: not provided
Neoplasm		 Criteria Provided
Multiple Submitters
No Conflicts
 CA026363 rs_121913301

10 SubmittersRCV000013951RCV000492492RCV000725187RCV004668727
NM_000321.3(RB1):c.2107-2A>G SNV
Germline/somatic		 Chr13:48463729 Pathogenic/Likely pathogenic Malignant tumor of urinary bladder
Retinoblastoma
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA388166990 rs_1593538130

4 SubmittersRCV000013952RCV001229630RCV004948134
NM_000321.3(RB1):c.2242G>T (p.Glu748Ter) SNV
Germline/somatic		 Chr13:48465028 Pathogenic Small cell lung carcinoma
Retinoblastoma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA026433 rs_121913297

3 SubmittersRCV000013953RCV002272016
NM_000321.3(RB1):c.2212-1G>A SNV
Somatic		 Chr13:48464997 Pathogenic Retinoblastoma No Assertion Criteria Provided
 CA026432 rs_587776786

1 SubmittersRCV000013959
NC_000013.11:g.48303724G>T SNV
Germline		 Chr13:48303724 Likely pathogenic Retinoblastoma Criteria Provided
Multiple Submitters
No Conflicts
 CA026384 rs_387906520

4 SubmittersRCV000013960
NM_000321.3(RB1):c.-198G>A SNV
Germline		 Chr13:48303715 Pathogenic/Likely pathogenic Retinoblastoma
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA026385 rs_387906521

5 SubmittersRCV000013961RCV000492684
NM_000321.3(RB1):c.1981C>T (p.Arg661Trp) SNV
Germline/somatic		 Chr13:48459708 Pathogenic Retinoblastoma
Hereditary cancer-predisposing syndrome
Small cell lung carcinoma
Malignant tumor of urinary bladder
Retinoblastoma
Bone osteosarcoma
Condition: not provided
Vulvar adenocarcinoma of mammary gland type
Neoplasm
Hereditary retinoblastoma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA026417 rs_137853294

15 SubmittersRCV000013962RCV000492717RCV000763335RCV000790652RCV004813036RCV006273053RCV006554436
NM_000321.3(RB1):c.2023G>T (p.Glu675Ter) SNV
Germline		 Chr13:48459750 Pathogenic Retinoblastoma No Assertion Criteria Provided
 CA249308167 rs_137853295

1 SubmittersRCV000013963
NM_000321.3(RB1):c.2211G>A (p.Glu737=) SNV
Germline		 Chr13:48463835 Pathogenic Retinoblastoma
Hereditary cancer-predisposing syndrome		 Criteria Provided
Single Submitter
 CA026429 rs_587776787

2 SubmittersRCV000013964RCV002426501
NM_000321.3(RB1):c.1666C>T (p.Arg556Ter) SNV
Germline		 Chr13:48381414 Pathogenic Trilateral retinoblastoma
Retinoblastoma
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA026386 rs_121913304

5 SubmittersRCV000013966RCV000114734RCV000492084
NM_000321.3(RB1):c.2134T>C (p.Cys712Arg) SNV
Germline		 Chr13:48463758 Pathogenic/Likely pathogenic Retinoblastoma
Hereditary cancer-predisposing syndrome
Hereditary retinoblastoma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA026423 rs_137853296

5 SubmittersRCV000013968RCV000492516RCV002466401
NM_000321.3(RB1):c.607+1G>T SNV
Germline		 Chr13:48349024 Pathogenic Retinoblastoma
Condition: not provided
Hereditary cancer-predisposing syndrome
Bone osteosarcoma
Small cell lung carcinoma
Retinoblastoma
Malignant tumor of urinary bladder
Hereditary retinoblastoma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA026463 rs_587776789

9 SubmittersRCV000013969RCV000484757RCV000492204RCV004795405RCV006554437
NM_000321.3(RB1):c.1818T>A (p.Tyr606Ter) SNV
Germline		 Chr13:48456207 Pathogenic Retinoblastoma
Hereditary cancer-predisposing syndrome		 Criteria Provided
Single Submitter
 CA026402 rs_137853297

2 SubmittersRCV000013970RCV002408459
NM_000321.3(RB1):c.2490-1398A>G SNV
Germline		 Chr13:48471962 Pathogenic/Likely pathogenic Retinoblastoma
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA026441 rs_587776791

3 SubmittersRCV000013972RCV003321482
NM_000321.3(RB1):c.1966C>T (p.Arg656Trp) SNV
Germline		 Chr13:48459693 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Retinoblastoma
not specified
Ovarian cancer
RB1-related disorder		 Criteria Provided
Conflicting Classifications
 CA026415 rs_142509759

17 SubmittersRCV000034595RCV000566730RCV001085189RCV002281727RCV003153323RCV003944881
NM_000321.3(RB1):c.1399C>T (p.Arg467Ter) SNV
Germline		 Chr13:48380062 Pathogenic Condition: not provided
Retinoblastoma
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA026376 rs_398123331

9 SubmittersRCV000078633RCV000114730RCV000492734
NM_000321.3(RB1):c.2626C>T (p.Arg876Cys) SNV
Germline		 Chr13:48476806 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Retinoblastoma
not specified		 Criteria Provided
Conflicting Classifications
 CA026444 rs_143105337

6 SubmittersRCV000078638RCV000573514RCV000810054RCV003493436
NM_000321.3(RB1):c.1960G>A (p.Val654Met) SNV
Germline/somatic		 Chr13:48456349 Pathogenic Condition: not provided
Retinoblastoma
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA026413 rs_483352690

4 SubmittersRCV000087166RCV001854505RCV006287160
NM_000321.3(RB1):c.1723C>T (p.Gln575Ter) SNV
Germline		 Chr13:48453020 Pathogenic Retinoblastoma Criteria Provided
Multiple Submitters
No Conflicts
 CA026397 rs_587778864

3 SubmittersRCV000114676
NM_000321.3(RB1):c.1735C>T (p.Arg579Ter) SNV
Germline		 Chr13:48453032 Pathogenic Retinoblastoma
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary retinoblastoma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA026398 rs_121913305

9 SubmittersRCV000114677RCV000492238RCV000521112RCV006555032
NM_000321.3(RB1):c.1738G>T (p.Glu580Ter) SNV
Somatic		 Chr13:48453035 Pathogenic Retinoblastoma No Assertion Criteria Provided
 CA026399 rs_587778858

1 SubmittersRCV000114678
NM_000321.3(RB1):c.1909C>T (p.Gln637Ter) SNV
Germline/somatic		 Chr13:48456298 Pathogenic Retinoblastoma
Neoplasm
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA026407 rs_587778833

3 SubmittersRCV000114680RCV004668775RCV004943753
NM_000321.3(RB1):c.1925T>A (p.Leu642Ter) SNV
Somatic		 Chr13:48456314 Pathogenic Retinoblastoma No Assertion Criteria Provided
 CA026408 rs_587778865

1 SubmittersRCV000114681
NM_000321.3(RB1):c.1927A>G (p.Lys643Glu) SNV
Somatic		 Chr13:48456316 Pathogenic Retinoblastoma No Assertion Criteria Provided
 CA026409 rs_587778866

1 SubmittersRCV000114682
NM_000321.3(RB1):c.1960+5G>A SNV
Germline/somatic		 Chr13:48456354 Likely pathogenic Retinoblastoma
Condition: not provided		 Criteria Provided
Single Submitter
 CA026412 rs_587778871

2 SubmittersRCV000114683RCV000578537
NM_000321.3(RB1):c.1961-2A>T SNV
Somatic		 Chr13:48459686 Pathogenic Retinoblastoma
Neoplasm		 No Assertion Criteria Provided
 CA026414 rs_587778867

2 SubmittersRCV000114684RCV004668776
NM_000321.3(RB1):c.2101G>A (p.Asp701Asn) SNV
Somatic		 Chr13:48459828 Pathogenic Retinoblastoma No Assertion Criteria Provided
 CA026421 rs_587778859

1 SubmittersRCV000114686
NM_000321.3(RB1):c.2107-1G>C SNV
Germline/somatic		 Chr13:48463730 Pathogenic Retinoblastoma
Malignant tumor of urinary bladder
Cervical cancer		 No Assertion Criteria Provided
 CA026422 rs_587778860

2 SubmittersRCV000114687RCV005887886RCV005887887
NM_000321.3(RB1):c.2164A>T (p.Lys722Ter) SNV
Germline/somatic		 Chr13:48463788 Pathogenic Retinoblastoma
Hereditary cancer-predisposing syndrome		 Criteria Provided
Single Submitter
 CA026424 rs_587778849

2 SubmittersRCV000114688RCV001014655
NM_000321.3(RB1):c.2197C>T (p.His733Tyr) SNV
Somatic		 Chr13:48463821 Pathogenic Retinoblastoma No Assertion Criteria Provided
 CA026427 rs_587778835

1 SubmittersRCV000114689
NM_000321.3(RB1):c.2209G>T (p.Glu737Ter) SNV
Somatic		 Chr13:48463833 Pathogenic Retinoblastoma
Neoplasm		 No Assertion Criteria Provided
 CA026428 rs_587778868

2 SubmittersRCV000114690RCV006273510
NM_000321.3(RB1):c.2212-13T>A SNV
Germline		 Chr13:48464985 Likely pathogenic Retinoblastoma
Hereditary retinoblastoma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2580087662 rs_2138344431

3 SubmittersRCV000114691RCV006555033
NM_000321.3(RB1):c.2247T>A (p.Tyr749Ter) SNV
Somatic		 Chr13:48465033 Pathogenic Retinoblastoma No Assertion Criteria Provided
 CA026435 rs_587778861

1 SubmittersRCV000114693
NM_000321.3(RB1):c.2370C>G (p.Tyr790Ter) SNV
Germline		 Chr13:48465249 Pathogenic Retinoblastoma Criteria Provided
Single Submitter
 CA388167838 rs_794727372

1 SubmittersRCV000114694
NM_000321.3(RB1):c.2490-1G>A SNV
Somatic		 Chr13:48473359 Pathogenic Retinoblastoma No Assertion Criteria Provided
 CA026442 rs_587778838

1 SubmittersRCV000114696
NM_000321.3(RB1):c.2520+1G>A SNV
Germline/somatic		 Chr13:48473391 Pathogenic Retinoblastoma
Neoplasm
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA026443 rs_587778850

5 SubmittersRCV000114697RCV004668777RCV004943754
NM_000321.3(RB1):c.2663+2T>C SNV
Germline/somatic		 Chr13:48476845 Pathogenic Retinoblastoma
Condition: not provided
Malignant tumor of urinary bladder		 Criteria Provided
Single Submitter
 CA026445 rs_587778839

3 SubmittersRCV000114699RCV003237715RCV005887888
NM_000321.3(RB1):c.409G>T (p.Glu137Ter) SNV
Germline		 Chr13:48345108 Pathogenic Retinoblastoma
Hereditary retinoblastoma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA026454 rs_121913296

4 SubmittersRCV000114702RCV006555034
NM_000321.3(RB1):c.446C>G (p.Ser149Ter) SNV
Germline		 Chr13:48345145 Pathogenic Retinoblastoma
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA026458 rs_587778870

2 SubmittersRCV000114704RCV002326809
NM_000321.3(RB1):c.508G>T (p.Glu170Ter) SNV
Germline		 Chr13:48347832 Pathogenic Retinoblastoma Criteria Provided
Single Submitter
 CA026460 rs_587778826

1 SubmittersRCV000114706
NM_000321.3(RB1):c.103C>T (p.Gln35Ter) SNV
Germline		 Chr13:48304015 Pathogenic Retinoblastoma Criteria Provided
Multiple Submitters
No Conflicts
 CA026359 rs_587778869

2 SubmittersRCV000114710
NM_000321.3(RB1):c.763C>T (p.Arg255Ter) SNV
Germline/somatic		 Chr13:48362859 Pathogenic Retinoblastoma
Hereditary cancer-predisposing syndrome
Condition: not provided
Malignant tumor of urinary bladder
Small cell lung carcinoma
Bone osteosarcoma
Retinoblastoma
Neoplasm
Hereditary retinoblastoma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA026466 rs_587778842

14 SubmittersRCV000114712RCV000492345RCV000790825RCV006257273RCV006273511RCV006555035
NM_000321.3(RB1):c.937G>T (p.Glu313Ter) SNV
Germline		 Chr13:48364969 Pathogenic Retinoblastoma Criteria Provided
Single Submitter
 CA026469 rs_587778843

1 SubmittersRCV000114715
NM_000321.3(RB1):c.958C>T (p.Arg320Ter) SNV
Germline		 Chr13:48367512 Pathogenic Retinoblastoma
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary retinoblastoma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA026470 rs_121913300

8 SubmittersRCV000114716RCV000492534RCV001558107RCV006554453
NM_000321.3(RB1):c.1021A>T (p.Lys341Ter) SNV
Germline/somatic		 Chr13:48367575 Pathogenic Retinoblastoma
Neoplasm		 Criteria Provided
Single Submitter
 CA026357 rs_587778855

2 SubmittersRCV000114717RCV006273512
NM_000321.3(RB1):c.1049+1G>A SNV
Germline/somatic		 Chr13:48367604 Pathogenic/Likely pathogenic Retinoblastoma
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA026360 rs_587776782

3 SubmittersRCV000114719RCV000492362
NM_000321.3(RB1):c.1166T>A (p.Leu389Ter) SNV
Somatic		 Chr13:48373443 Pathogenic Retinoblastoma No Assertion Criteria Provided
 CA026365 rs_587778845

1 SubmittersRCV000114723
NM_000321.3(RB1):c.1215+1G>A SNV
Germline/somatic		 Chr13:48373493 Pathogenic Retinoblastoma
Hereditary cancer-predisposing syndrome
Small cell lung carcinoma
Bone osteosarcoma
Retinoblastoma
Malignant tumor of urinary bladder
Malignant tumor of urinary bladder
Neoplasm
Sarcoma
Glioma susceptibility 1
Hereditary retinoblastoma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA026367 rs_587776783

17 SubmittersRCV000114724RCV000492136RCV000763334RCV003460796RCV005229900RCV005887890RCV005887889RCV006555036
NM_000321.3(RB1):c.1216-1G>A SNV
Germline		 Chr13:48376917 Pathogenic/Likely pathogenic Retinoblastoma Criteria Provided
Multiple Submitters
No Conflicts
 CA026368 rs_587778831

3 SubmittersRCV000114725
NM_000321.3(RB1):c.1332+1G>A SNV
Germline		 Chr13:48377035 Pathogenic Retinoblastoma
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA026369 rs_587778846

3 SubmittersRCV000114726RCV001731377
NM_000321.3(RB1):c.1332+1G>T SNV
Germline		 Chr13:48377035 Pathogenic Retinoblastoma Criteria Provided
Single Submitter
 CA026370 rs_587778846

1 SubmittersRCV000114727
NM_000321.3(RB1):c.1346G>T (p.Gly449Val) SNV
Germline		 Chr13:48379607 Likely pathogenic Retinoblastoma Criteria Provided
Single Submitter
 CA026372 rs_587778847

1 SubmittersRCV000114728
NM_000321.3(RB1):c.1363C>T (p.Arg455Ter) SNV
Germline/somatic		 Chr13:48379624 Pathogenic Retinoblastoma
Condition: not provided
Hereditary cancer-predisposing syndrome
See cases
Malignant tumor of urinary bladder
Neoplasm
Hereditary retinoblastoma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA026373 rs_121913302

12 SubmittersRCV000114729RCV000486601RCV000492246RCV003156072RCV003332117RCV006273513RCV006555037
NM_000321.3(RB1):c.1654C>T (p.Arg552Ter) SNV
Germline/somatic		 Chr13:48381402 Pathogenic Retinoblastoma
Hereditary cancer-predisposing syndrome
Malignant tumor of urinary bladder
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA026383 rs_121913303

7 SubmittersRCV000114733RCV000492730RCV003332118RCV004589553
NM_000321.3(RB1):c.1688G>A (p.Trp563Ter) SNV
Somatic		 Chr13:48381436 Pathogenic Retinoblastoma
Malignant tumor of urinary bladder		 No Assertion Criteria Provided
 CA026388 rs_587778863

2 SubmittersRCV000114735RCV003332119
NM_000321.3(RB1):c.1695+1G>A SNV
Germline		 Chr13:48381444 Pathogenic Retinoblastoma Criteria Provided
Single Submitter
 CA026389 rs_587778857

1 SubmittersRCV000114736
NM_000264.5(PTCH1):c.4303G>A (p.Val1435Met) SNV
Germline		 Chr9:95446953 Conflicting classifications of pathogenicity not specified
Retinoblastoma
Hereditary cancer-predisposing syndrome
Gorlin syndrome		 Criteria Provided
Conflicting Classifications
 CA161744 rs_587778632

4 SubmittersRCV000121902RCV000761023RCV001022254RCV001036592
NM_000321.3(RB1):c.59C>T (p.Pro20Leu) SNV
Germline		 Chr13:48303971 Conflicting classifications of pathogenicity not specified
Retinoblastoma
Hereditary cancer-predisposing syndrome
RB1-related disorder		 Criteria Provided
Conflicting Classifications
 CA026462 rs_587778637

9 SubmittersRCV000121915RCV000477348RCV000569325RCV003945101
NM_000321.3(RB1):c.1573G>A (p.Ala525Thr) SNV
Germline		 Chr13:48381321 Conflicting classifications of pathogenicity not specified
Retinoblastoma
Hereditary cancer-predisposing syndrome
Ovarian cancer
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA026380 rs_587778640

7 SubmittersRCV000121919RCV000701091RCV002399489RCV003153399RCV004589589
NM_000321.3(RB1):c.1861C>A (p.Arg621Ser) SNV
Germline		 Chr13:48456250 Conflicting classifications of pathogenicity not specified
Retinoblastoma
Hereditary cancer-predisposing syndrome
Condition: not provided
RB1-related disorder		 Criteria Provided
Conflicting Classifications
 CA026403 rs_367578442

8 SubmittersRCV000121920RCV000457901RCV000572000RCV001570931RCV003905163
NM_000321.3(RB1):c.1862G>A (p.Arg621His) SNV
Germline		 Chr13:48456251 Conflicting classifications of pathogenicity not specified
Hereditary cancer-predisposing syndrome
Retinoblastoma
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA026404 rs_373601944

6 SubmittersRCV000121922RCV001013435RCV001083762RCV003441744
NM_001048174.2(MUTYH):c.1309C>G (p.Pro437Ala) SNV
Germline		 Chr1:45331265 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2
not specified
Condition: not provided
Retinoblastoma
Carcinoma of colon
Familial adenomatous polyposis 2
Gastric cancer		 Criteria Provided
Conflicting Classifications
 CA012659 rs_375597447

13 SubmittersRCV000130637RCV000229106RCV000235231RCV000657068RCV000761015RCV001353621RCV005016443
NM_000321.3(RB1):c.2212-16T>A SNV
Germline		 Chr13:48464982 Conflicting classifications of pathogenicity not specified
Condition: not provided
Retinoblastoma
Hereditary cancer-predisposing syndrome
RB1-related disorder		 Criteria Provided
Conflicting Classifications
 CA026431 rs_201258424

8 SubmittersRCV000153812RCV000723933RCV001483212RCV002255133RCV003975205
NM_000321.3(RB1):c.1696-1G>A SNV
Germline		 Chr13:48452992 Pathogenic Condition: not provided
Retinoblastoma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA026395 rs_794727199

4 SubmittersRCV000175271RCV001388989
NM_000321.3(RB1):c.2212-15A>G SNV
Germline		 Chr13:48464983 Conflicting classifications of pathogenicity Condition: not provided
Retinoblastoma
RB1-related disorder		 Criteria Provided
Conflicting Classifications
 CA026430 rs_372815788

4 SubmittersRCV000176258RCV002054075RCV003927622
NM_000321.3(RB1):c.297G>A (p.Trp99Ter) SNV
Germline		 Chr13:48342631 Pathogenic Condition: not provided
Hereditary cancer-predisposing syndrome
Retinoblastoma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA026447 rs_794727481

3 SubmittersRCV000177038RCV000492718RCV001386156
NM_024675.4(PALB2):c.1337A>T (p.Asp446Val) SNV
Germline		 Chr16:23635209 Conflicting classifications of pathogenicity Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
Retinoblastoma
not specified
Familial cancer of breast
Fanconi anemia complementation group N
Pancreatic cancer, susceptibility to, 3
PALB2-related disorder
Breast-ovarian cancer, familial, susceptibility to, 5		 Criteria Provided
Conflicting Classifications
 CA339587 rs_146434474

12 SubmittersRCV000200861RCV000255070RCV000562823RCV000761148RCV001194137RCV002492922RCV004530198RCV005600809
NM_001042492.3(NF1):c.5255A>G (p.Lys1752Arg) SNV
Germline		 Chr17:31326239 Conflicting classifications of pathogenicity Neurofibromatosis, type 1
Retinoblastoma
Condition: not provided
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome
Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis
Juvenile myelomonocytic leukemia
Neurofibromatosis, familial spinal
Neurofibromatosis, type 1		 Criteria Provided
Conflicting Classifications
 CA350098 rs_864622373

6 SubmittersRCV000206031RCV000761161RCV001753612RCV002317736RCV005008146
NM_000321.3(RB1):c.929G>A (p.Gly310Glu) SNV
Germline		 Chr13:48364961 Conflicting classifications of pathogenicity Retinoblastoma
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA039832 rs_200844292

14 SubmittersRCV000232627RCV000456021RCV000563177RCV000730555
NM_000321.3(RB1):c.1154T>G (p.Leu385Ter) SNV
Germline		 Chr13:48373431 Pathogenic Retinoblastoma Criteria Provided
Single Submitter
 CA10583158 rs_878853947

1 SubmittersRCV000226485
NM_000321.3(RB1):c.1814+3A>C SNV
Germline		 Chr13:48453114 Pathogenic Retinoblastoma Criteria Provided
Multiple Submitters
No Conflicts
 CA10583159 rs_376886420

2 SubmittersRCV000227413
NM_000321.3(RB1):c.2053C>T (p.Gln685Ter) SNV
Germline		 Chr13:48459780 Pathogenic Retinoblastoma
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10583160 rs_878853949

3 SubmittersRCV000234228RCV000492351
NM_000321.3(RB1):c.2332A>G (p.Thr778Ala) SNV
Germline		 Chr13:48465211 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome
Malignant tumor of urinary bladder		 Criteria Provided
Conflicting Classifications
 CA10583161 rs_878853950

3 SubmittersRCV000228067RCV002444884RCV003463654
NM_000321.3(RB1):c.2518G>A (p.Gly840Arg) SNV
Germline		 Chr13:48473388 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome
RB1-related disorder		 Criteria Provided
Conflicting Classifications
 CA035961 rs_374157786

8 SubmittersRCV000232184RCV001015828RCV003417806
NM_002382.5(MAX):c.397G>A (p.Ala133Thr) SNV
Germline		 Chr14:65076562 Conflicting classifications of pathogenicity Hereditary pheochromocytoma and paraganglioma
Hereditary cancer-predisposing syndrome
Retinoblastoma
Pheochromocytoma
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA7232798 rs_750459929

6 SubmittersRCV000227155RCV000567888RCV000761172RCV001111565RCV006252690
NM_000321.3(RB1):c.1814+3A>G SNV
Germline		 Chr13:48453114 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA032673 rs_376886420

5 SubmittersRCV000238879RCV001013283
NM_000321.3(RB1):c.1390-11A>G SNV
Germline		 Chr13:48380042 Conflicting classifications of pathogenicity not specified
Retinoblastoma
Condition: not provided
Hereditary cancer-predisposing syndrome
Thymoma
Lung cancer
Hereditary retinoblastoma		 Criteria Provided
Conflicting Classifications
 CA028530 rs_200658795

9 SubmittersRCV000242334RCV000372212RCV001705333RCV002392760RCV005891242RCV005891243RCV006555052
NM_000321.3(RB1):c.2325+5G>A SNV
Germline		 Chr13:48465116 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Retinoblastoma		 Criteria Provided
Conflicting Classifications
 CA10603986 rs_886042249

3 SubmittersRCV000275303RCV000492651RCV004556776
NM_000321.3(RB1):c.16C>T (p.Pro6Ser) SNV
Germline		 Chr13:48303928 Conflicting classifications of pathogenicity Condition: not provided
Retinoblastoma
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10605156 rs_886043138

3 SubmittersRCV000382603RCV001085098RCV002401991
NM_000321.3(RB1):c.1510C>T (p.Gln504Ter) SNV
Germline/somatic		 Chr13:48381258 Pathogenic Condition: not provided
Retinoblastoma
Neoplasm		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10605288 rs_886043247

4 SubmittersRCV000387387RCV001855163RCV006273698
NM_000321.3(RB1):c.2489+1G>C SNV
Germline		 Chr13:48465369 Pathogenic Condition: not provided
Hereditary cancer-predisposing syndrome
Retinoblastoma
Squamous cell lung carcinoma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10605763 rs_764754259

5 SubmittersRCV000407067RCV000492739RCV004556777RCV005895771
NM_000321.3(RB1):c.616T>C (p.Leu206=) SNV
Germline		 Chr13:48360025 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10634444 rs_886050270

3 SubmittersRCV000269222RCV002356422
NM_000321.3(RB1):c.-69G>C SNV
Germline		 Chr13:48303844 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10643552 rs_753117180

3 SubmittersRCV000342520RCV002258873
NM_000321.3(RB1):c.1696-4A>G SNV
Germline		 Chr13:48452989 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA032310 rs_143685082

4 SubmittersRCV000342053RCV001012678
NM_000321.3(RB1):c.2003G>A (p.Arg668His) SNV
Germline		 Chr13:48459730 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA033741 rs_551747882

6 SubmittersRCV000397474RCV001014061RCV003441836RCV004767226
NM_000321.3(RB1):c.2091C>G (p.Asp697Glu) SNV
Germline		 Chr13:48459818 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome
Condition: not provided
Malignant tumor of urinary bladder		 Criteria Provided
Conflicting Classifications
 CA033984 rs_3092903

7 SubmittersRCV000306444RCV001014403RCV002305481RCV003463782
NM_000321.3(RB1):c.596T>A (p.Leu199Ter) SNV
Germline		 Chr13:48349012 Pathogenic Retinoblastoma Criteria Provided
Single Submitter
 CA16602773 rs_121913298

1 SubmittersRCV000437633
NM_000321.3(RB1):c.2360G>A (p.Arg787Gln) SNV
Germline		 Chr13:48465239 Conflicting classifications of pathogenicity not specified
Retinoblastoma
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA035361 rs_748094394

7 SubmittersRCV000455977RCV000459571RCV000566207RCV000859119
NM_000321.3(RB1):c.613G>A (p.Val205Ile) SNV
Germline		 Chr13:48360022 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA039119 rs_770100636

4 SubmittersRCV000476876RCV001024932RCV005639126
NM_000321.3(RB1):c.784C>T (p.Arg262Trp) SNV
Germline		 Chr13:48362880 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA16614007 rs_556201144

4 SubmittersRCV000466550RCV002411502
NM_000321.3(RB1):c.1073G>A (p.Arg358Gln) SNV
Germline		 Chr13:48368550 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA027547 rs_767011440

5 SubmittersRCV000469444RCV002418415RCV003318582
NM_000321.3(RB1):c.1696-12T>G SNV
Germline		 Chr13:48452981 Pathogenic/Likely pathogenic Retinoblastoma Criteria Provided
Multiple Submitters
No Conflicts
 CA16614016 rs_1060503088

3 SubmittersRCV000471747
NM_000321.3(RB1):c.1766C>G (p.Ala589Gly) SNV
Germline		 Chr13:48453063 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA16614018 rs_779045727

3 SubmittersRCV000457051RCV002402288
NM_000321.3(RB1):c.2029G>T (p.Glu677Ter) SNV
Germline		 Chr13:48459756 Pathogenic Retinoblastoma Criteria Provided
Single Submitter
 CA16614022 rs_1060503067

1 SubmittersRCV000470261
NM_000321.3(RB1):c.2392C>T (p.Arg798Trp) SNV
Germline		 Chr13:48465271 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome
RB1-related disorder
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA035443 rs_187912365

8 SubmittersRCV000467563RCV000566527RCV003942492RCV004708916
NM_000321.3(RB1):c.148G>C (p.Glu50Gln) SNV
Germline		 Chr13:48307290 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA16614037 rs_1060503085

3 SubmittersRCV000461996RCV002393152
NM_000321.3(RB1):c.898A>C (p.Met300Leu) SNV
Germline		 Chr13:48364930 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA16614038 rs_1060503086

6 SubmittersRCV000471474RCV002374802RCV005230406
NM_000321.3(RB1):c.1328C>A (p.Ser443Ter) SNV
Germline		 Chr13:48377030 Pathogenic Retinoblastoma
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16614041 rs_1060503079

2 SubmittersRCV000471628RCV000492335
NM_000321.3(RB1):c.1861C>T (p.Arg621Cys) SNV
Germline		 Chr13:48456250 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA032901 rs_367578442

5 SubmittersRCV000460516RCV000565788RCV001821287
NM_000321.3(RB1):c.1887G>C (p.Glu629Asp) SNV
Germline		 Chr13:48456276 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA032967 rs_367668687

6 SubmittersRCV000465473RCV001013560RCV003227760
NM_000321.3(RB1):c.1960G>C (p.Val654Leu) SNV
Germline		 Chr13:48456349 Pathogenic Retinoblastoma
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16614062 rs_483352690

3 SubmittersRCV000466407RCV001013858
NM_000321.3(RB1):c.2521-7T>A SNV
Germline		 Chr13:48476694 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA16614065 rs_371150038

5 SubmittersRCV000463858RCV002255412
NM_000321.3(RB1):c.2566G>A (p.Asp856Asn) SNV
Germline		 Chr13:48476746 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome
B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified
Condition: not provided
not specified
RB1-related disorder
Hereditary retinoblastoma		 Criteria Provided
Conflicting Classifications
 CA036169 rs_149359120

12 SubmittersRCV000467622RCV000492588RCV000761059RCV001555707RCV001821379RCV003925378RCV006555061
NM_000321.3(RB1):c.83C>G (p.Pro28Arg) SNV
Germline		 Chr13:48303995 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA039558 rs_776175164

4 SubmittersRCV000470650RCV001017708
NM_000321.3(RB1):c.1215+2T>G SNV
Germline		 Chr13:48373494 Pathogenic Retinoblastoma
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16614303 rs_1060503074

2 SubmittersRCV000469761RCV002356696
NM_000321.3(RB1):c.1318G>A (p.Glu440Lys) SNV
Germline		 Chr13:48377020 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome
Malignant tumor of urinary bladder		 Criteria Provided
Conflicting Classifications
 CA16614305 rs_1060503078

5 SubmittersRCV000466200RCV000492148RCV003470478
NM_000321.3(RB1):c.1389+1G>T SNV
Germline		 Chr13:48379651 Pathogenic Retinoblastoma
Sarcoma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16614310 rs_1060503087

3 SubmittersRCV000462245RCV005899496
NM_000321.3(RB1):c.1390-14A>G SNV
Germline		 Chr13:48380039 Pathogenic/Likely pathogenic Retinoblastoma Criteria Provided
Multiple Submitters
No Conflicts
 CA16614313 rs_9535023

2 SubmittersRCV000465314
NM_000321.3(RB1):c.1468G>A (p.Ala490Thr) SNV
Germline		 Chr13:48380211 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome
Condition: not provided
Ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA028873 rs_201458896

6 SubmittersRCV000462974RCV001011725RCV001753905RCV003153636
NM_000321.3(RB1):c.1736G>A (p.Arg579Gln) SNV
Germline		 Chr13:48453033 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome
Malignant tumor of urinary bladder		 Criteria Provided
Conflicting Classifications
 CA032389 rs_751560923

6 SubmittersRCV000477144RCV001012950RCV003463953
NM_000321.3(RB1):c.2491A>G (p.Ile831Val) SNV
Germline		 Chr13:48473361 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA035903 rs_761068783

6 SubmittersRCV000467333RCV001015689RCV003479127RCV006443451
NM_000321.3(RB1):c.238A>G (p.Lys80Glu) SNV
Germline		 Chr13:48307380 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA035434 rs_751870680

4 SubmittersRCV000456691RCV001015371
NM_000321.3(RB1):c.967G>T (p.Glu323Ter) SNV
Germline		 Chr13:48367521 Pathogenic Retinoblastoma Criteria Provided
Multiple Submitters
No Conflicts
 CA16614439 rs_1060503077

2 SubmittersRCV000471380
NM_000321.3(RB1):c.607+1G>A SNV
Germline		 Chr13:48349024 Pathogenic Condition: not provided
Hereditary cancer-predisposing syndrome
Lynch syndrome 4
Retinoblastoma
Hepatocellular carcinoma
Hereditary retinoblastoma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16619811 rs_587776789

9 SubmittersRCV000483814RCV000492670RCV000786882RCV002525820RCV005899651RCV006555062
NM_000321.3(RB1):c.1268G>A (p.Gly423Glu) SNV
Germline		 Chr13:48376970 Conflicting classifications of pathogenicity Condition: not provided
Retinoblastoma
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA028058 rs_748635133

6 SubmittersRCV000480107RCV000531874RCV001010666
NM_000321.3(RB1):c.264+1G>A SNV
Germline		 Chr13:48307407 Pathogenic Hereditary cancer-predisposing syndrome
Retinoblastoma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA388250701 rs_1131690907

3 SubmittersRCV000492283RCV001856950
NM_000321.3(RB1):c.380G>A (p.Ser127Asn) SNV
Germline		 Chr13:48342714 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Retinoblastoma
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA388252575 rs_1131690843

3 SubmittersRCV000492187RCV004556798RCV001591131
NM_000321.3(RB1):c.380G>C (p.Ser127Thr) SNV
Germline		 Chr13:48342714 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Retinoblastoma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA388252576 rs_1131690843

2 SubmittersRCV000492301RCV000814584
NM_000321.3(RB1):c.380+1G>A SNV
Germline/somatic		 Chr13:48342715 Pathogenic Hereditary cancer-predisposing syndrome
Retinoblastoma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA388252578 rs_1131690902

3 SubmittersRCV000492145RCV001290126
NM_000321.3(RB1):c.496G>T (p.Glu166Ter) SNV
Germline		 Chr13:48345195 Pathogenic Hereditary cancer-predisposing syndrome
Hereditary retinoblastoma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA388252855 rs_1131690874

2 SubmittersRCV000492150RCV006555067
NM_000321.3(RB1):c.500+1G>T SNV
Germline		 Chr13:48345200 Pathogenic Hereditary cancer-predisposing syndrome
Retinoblastoma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA388252868 rs_1131690880

2 SubmittersRCV000492213RCV002523986
NM_000321.3(RB1):c.644C>A (p.Ser215Ter) SNV
Germline		 Chr13:48360053 Pathogenic Retinoblastoma
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA388158248 rs_768305224

2 SubmittersRCV000812389RCV000492073
NM_000321.3(RB1):c.709G>T (p.Glu237Ter) SNV
Germline		 Chr13:48360118 Pathogenic Hereditary cancer-predisposing syndrome
Retinoblastoma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA388158618 rs_1131690904

2 SubmittersRCV000492435RCV003514369
NM_000321.3(RB1):c.718+5G>T SNV
Germline		 Chr13:48360132 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA645369535 rs_1131690848

3 SubmittersRCV001070474RCV000492375
NM_000321.3(RB1):c.751C>T (p.Arg251Ter) SNV
Germline/somatic		 Chr13:48362847 Pathogenic Hereditary cancer-predisposing syndrome
Retinoblastoma
Neoplasm
Condition: not provided
Hereditary retinoblastoma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA388159319 rs_1131690863

8 SubmittersRCV000492399RCV000548468RCV004669004RCV006273838RCV006555066
NM_000321.3(RB1):c.857A>G (p.Asp286Gly) SNV
Germline/somatic		 Chr13:48362953 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Retinoblastoma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA388159708 rs_1131690864

4 SubmittersRCV000492155RCV000684899
NM_000321.3(RB1):c.940-1G>A SNV
Germline		 Chr13:48367493 Pathogenic Hereditary cancer-predisposing syndrome
Retinoblastoma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA388160560 rs_1131690860

3 SubmittersRCV000492095RCV000701287
NM_000321.3(RB1):c.1128-2A>G SNV
Germline		 Chr13:48373403 Pathogenic Hereditary cancer-predisposing syndrome
Retinoblastoma
Malignant tumor of urinary bladder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA388161421 rs_1131690892

3 SubmittersRCV000492690RCV004556797RCV005899756
NM_000321.3(RB1):c.1147C>T (p.Gln383Ter) SNV
Germline		 Chr13:48373424 Pathogenic Hereditary cancer-predisposing syndrome
RB1-related disorder
Retinoblastoma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA388161469 rs_1131690846

3 SubmittersRCV000492255RCV003403138RCV005091032
NM_000321.3(RB1):c.1345G>A (p.Gly449Arg) SNV
Germline		 Chr13:48379606 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Retinoblastoma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA388162556 rs_1131690851

3 SubmittersRCV000492212RCV000698759
NM_000321.3(RB1):c.1372G>T (p.Glu458Ter) SNV
Germline		 Chr13:48379633 Pathogenic Hereditary cancer-predisposing syndrome
Retinoblastoma
Malignant tumor of urinary bladder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA388162615 rs_1131690884

3 SubmittersRCV000492526RCV003514368RCV005899754
NM_000321.3(RB1):c.1389+5G>A SNV
Germline		 Chr13:48379655 Pathogenic Hereditary cancer-predisposing syndrome
Retinoblastoma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA645369547 rs_1131690859

2 SubmittersRCV000492554RCV006463074
NM_000321.3(RB1):c.1421+1G>C SNV
Germline/somatic		 Chr13:48380085 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Retinoblastoma
Neoplasm		 Criteria Provided
Multiple Submitters
No Conflicts
 CA388162744 rs_1131690886

3 SubmittersRCV000492392RCV001382143RCV006273839
NM_000321.3(RB1):c.1466G>A (p.Cys489Tyr) SNV
Germline		 Chr13:48380209 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Retinoblastoma		 Criteria Provided
Conflicting Classifications
 CA388162860 rs_1131690877

3 SubmittersRCV000492634RCV001042740
NM_000321.3(RB1):c.1498+1G>A SNV
Germline		 Chr13:48380242 Pathogenic/Likely pathogenic Retinoblastoma
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA388162927 rs_1131690909

2 SubmittersRCV004556799RCV000492294
NM_000321.3(RB1):c.1960+5G>C SNV
Germline		 Chr13:48456354 Pathogenic Hereditary cancer-predisposing syndrome
Retinoblastoma
Malignant tumor of urinary bladder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA645369526 rs_587778871

3 SubmittersRCV000492192RCV002523442RCV005899757
NM_000321.3(RB1):c.2094G>C (p.Arg698Ser) SNV
Germline		 Chr13:48459821 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Retinoblastoma		 Criteria Provided
Conflicting Classifications
 CA388166951 rs_1131690891

3 SubmittersRCV000492514RCV001294065
NM_000321.3(RB1):c.2325+1G>A SNV
Germline		 Chr13:48465112 Pathogenic Retinoblastoma
Condition: not provided
Hereditary cancer-predisposing syndrome
Malignant tumor of urinary bladder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA388167737 rs_1131690882

5 SubmittersRCV000705417RCV001563578RCV000492105RCV005899755
NM_000321.3(RB1):c.2325+1G>C SNV
Germline		 Chr13:48465112 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Retinoblastoma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA388167738 rs_1131690882

3 SubmittersRCV000492322RCV001856949
NM_000321.3(RB1):c.2489+1G>A SNV
Germline		 Chr13:48465369 Pathogenic Hereditary cancer-predisposing syndrome
Condition: not provided
Retinoblastoma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA035748 rs_764754259

3 SubmittersRCV000492539RCV000523250RCV003514370
NM_000321.3(RB1):c.2501C>A (p.Ser834Ter) SNV
Germline		 Chr13:48473371 Pathogenic Hereditary cancer-predisposing syndrome
Retinoblastoma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA388168125 rs_1131690906

3 SubmittersRCV000492748RCV001228827
NM_000321.3(RB1):c.2513C>A (p.Ser838Ter) SNV
Germline		 Chr13:48473383 Pathogenic Hereditary cancer-predisposing syndrome
Retinoblastoma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA388168153 rs_1131690908

2 SubmittersRCV000492489RCV004820851
NM_000321.3(RB1):c.2520+1G>T SNV
Germline		 Chr13:48473391 Pathogenic Retinoblastoma
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA388168168 rs_587778850

2 SubmittersRCV000686279RCV000492732
NM_000321.3(RB1):c.2520+5G>A SNV
Germline		 Chr13:48473395 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Retinoblastoma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA645369529 rs_1131690881

3 SubmittersRCV000492733RCV001384071
NM_000321.3(RB1):c.367A>G (p.Asn123Asp) SNV
Germline		 Chr13:48342701 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome
Ovarian neoplasm		 Criteria Provided
Conflicting Classifications
 CA037735 rs_149800437

6 SubmittersRCV000525619RCV000568188RCV001262454
NM_000321.3(RB1):c.462G>A (p.Lys154=) SNV
Germline		 Chr13:48345161 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome
Condition: not provided
RB1-related disorder		 Criteria Provided
Conflicting Classifications
 CA038226 rs_369830657

8 SubmittersRCV000528113RCV001022812RCV001545276RCV003905338
NM_000321.3(RB1):c.694C>T (p.Pro232Ser) SNV
Germline		 Chr13:48360103 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome
Malignant tumor of urinary bladder
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA388158529 rs_1195873978

7 SubmittersRCV000545275RCV001025836RCV003470734RCV004721416
NM_000321.3(RB1):c.697A>G (p.Met233Val) SNV
Germline		 Chr13:48360106 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome
Malignant tumor of urinary bladder		 Criteria Provided
Conflicting Classifications
 CA249273488 rs_770860809

4 SubmittersRCV000559948RCV002367788RCV003470735
NM_000321.3(RB1):c.861G>C (p.Glu287Asp) SNV
Germline		 Chr13:48362957 Pathogenic Retinoblastoma Criteria Provided
Single Submitter
 CA388159722 rs_1555284956

1 SubmittersRCV000555963
NM_000321.3(RB1):c.1174G>A (p.Ala392Thr) SNV
Germline		 Chr13:48373451 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome
Malignant tumor of urinary bladder
Small cell lung carcinoma
Retinoblastoma
Bone osteosarcoma
Malignant tumor of urinary bladder		 Criteria Provided
Conflicting Classifications
 CA027764 rs_181988132

5 SubmittersRCV000543132RCV001010134RCV003470731RCV002506302
NM_000321.3(RB1):c.1505C>T (p.Thr502Ile) SNV
Germline		 Chr13:48381253 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA029053 rs_752334972

4 SubmittersRCV000541847RCV002395310RCV004592554
NM_000321.3(RB1):c.2397T>G (p.Ile799Met) SNV
Germline		 Chr13:48465276 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA035479 rs_749392116

3 SubmittersRCV000539938RCV001015403RCV003327413
NM_000321.3(RB1):c.269G>T (p.Gly90Val) SNV
Germline		 Chr13:48342603 Conflicting classifications of pathogenicity Retinoblastoma
Malignant tumor of urinary bladder
Retinoblastoma
Bone osteosarcoma
Small cell lung carcinoma
Hereditary cancer-predisposing syndrome
Malignant tumor of urinary bladder
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA037060 rs_554727080

5 SubmittersRCV000559096RCV000763897RCV002438313RCV003470733RCV004772957
NM_000321.3(RB1):c.273T>C (p.Tyr91=) SNV
Germline		 Chr13:48342607 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA037393 rs_750136284

6 SubmittersRCV000549050RCV001016457RCV002281103
NM_000321.3(RB1):c.1463C>T (p.Ala488Val) SNV
Germline		 Chr13:48380206 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA028837 rs_780248969

3 SubmittersRCV000550618RCV002395309
NM_000321.3(RB1):c.2712G>T (p.Met904Ile) SNV
Germline		 Chr13:48477403 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA388157943 rs_1461167778

4 SubmittersRCV000537562RCV001016379
NM_000321.3(RB1):c.905C>A (p.Ser302Tyr) SNV
Germline		 Chr13:48364937 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome
Retinoblastoma
Bone osteosarcoma
Malignant tumor of urinary bladder
Small cell lung carcinoma
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA388159994 rs_1208736713

6 SubmittersRCV000525153RCV001018731RCV005010493RCV006264024
NM_000321.3(RB1):c.940-1G>T SNV
Germline		 Chr13:48367493 Pathogenic Retinoblastoma
Lung cancer		 Criteria Provided
Single Submitter
 CA388160564 rs_1131690860

2 SubmittersRCV000541021RCV005901273
NM_000321.3(RB1):c.1108C>T (p.Pro370Ser) SNV
Germline		 Chr13:48368585 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA388161312 rs_1168863456

3 SubmittersRCV000541581RCV002431548RCV003235276
NM_000321.3(RB1):c.2289A>T (p.Arg763Ser) SNV
Germline		 Chr13:48465075 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome
Malignant tumor of urinary bladder
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA388167657 rs_1167280920

7 SubmittersRCV000535183RCV001015075RCV003459200RCV005001076
NM_000321.3(RB1):c.2356C>T (p.Pro786Ser) SNV
Germline		 Chr13:48465235 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome
Medulloblastoma		 Criteria Provided
Conflicting Classifications
 CA035332 rs_754507551

6 SubmittersRCV000528489RCV001015131RCV000761011
NM_000321.3(RB1):c.2489+2T>C SNV
Germline		 Chr13:48465370 Pathogenic Retinoblastoma Criteria Provided
Single Submitter
 CA388168096 rs_1555294636

1 SubmittersRCV000532339
NM_000321.3(RB1):c.2653G>A (p.Ala885Thr) SNV
Germline		 Chr13:48476833 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA036655 rs_752897010

2 SubmittersRCV000559975RCV002456068
NM_000321.3(RB1):c.2694G>T (p.Gln898His) SNV
Germline		 Chr13:48477385 Conflicting classifications of pathogenicity Retinoblastoma
Malignant tumor of urinary bladder
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA037046 rs_757275103

4 SubmittersRCV000544257RCV003470732RCV005470450
NM_000321.3(RB1):c.137+6C>A SNV
Germline		 Chr13:48304055 Conflicting classifications of pathogenicity Retinoblastoma Criteria Provided
Conflicting Classifications
 CA609859346 rs_1273298763

2 SubmittersRCV000557262
NM_000321.3(RB1):c.731T>C (p.Ile244Thr) SNV
Germline		 Chr13:48362827 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA039420 rs_147754935

6 SubmittersRCV000533722RCV001026275RCV004772958
NM_000321.3(RB1):c.850A>G (p.Asn284Asp) SNV
Germline		 Chr13:48362946 Conflicting classifications of pathogenicity Retinoblastoma
Malignant tumor of urinary bladder
Retinoblastoma
Bone osteosarcoma
Small cell lung carcinoma
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA039582 rs_761609284

6 SubmittersRCV000541240RCV000763900RCV001017932
NM_000321.3(RB1):c.1333-2A>G SNV
Germline		 Chr13:48379592 Pathogenic Retinoblastoma
Glioma susceptibility 1
Hepatocellular carcinoma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA388162526 rs_1555286503

3 SubmittersRCV000543344RCV005901270RCV005901271
NM_000321.3(RB1):c.2570G>A (p.Arg857His) SNV
Germline		 Chr13:48476750 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA036194 rs_144668210

5 SubmittersRCV000552996RCV000563507RCV002510914
NM_000321.3(RB1):c.2533T>C (p.Phe845Leu) SNV
Germline		 Chr13:48476713 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Retinoblastoma
Condition: not provided
Malignant tumor of urinary bladder		 Criteria Provided
Conflicting Classifications
 CA249314576 rs_754183765

6 SubmittersRCV000575829RCV000706270RCV001770524RCV004569285
NM_000321.3(RB1):c.1411C>T (p.Gln471Ter) SNV
Germline		 Chr13:48380074 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Retinoblastoma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA388162715 rs_1354030520

2 SubmittersRCV000589929RCV004556806
NM_000321.3(RB1):c.1390-2A>G SNV
Germline		 Chr13:48380051 Pathogenic/Likely pathogenic not specified
Retinoblastoma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA388162661 rs_1555286568

2 SubmittersRCV000590064RCV000632925
NM_000321.3(RB1):c.283A>T (p.Lys95Ter) SNV
Germline		 Chr13:48342617 Pathogenic Retinoblastoma Criteria Provided
Single Submitter
 CA388252351 rs_1555282775

1 SubmittersRCV000632934
NM_000321.3(RB1):c.1139A>G (p.Asn380Ser) SNV
Germline		 Chr13:48373416 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA388161451 rs_1470523018

5 SubmittersRCV000632965RCV002325217
NM_000321.3(RB1):c.1198C>G (p.Leu400Val) SNV
Germline		 Chr13:48373475 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA388161643 rs_535576919

4 SubmittersRCV000632945RCV001010249RCV002307568
NM_000321.3(RB1):c.1422-1G>A SNV
Germline		 Chr13:48380164 Pathogenic Retinoblastoma Criteria Provided
Multiple Submitters
No Conflicts
 CA388162752 rs_1461382798

2 SubmittersRCV000632961
NM_000321.3(RB1):c.2726C>A (p.Thr909Lys) SNV
Germline		 Chr13:48480010 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA037358 rs_761999108

4 SubmittersRCV000632943RCV001016407RCV004719909
NM_000321.3(RB1):c.116C>T (p.Pro39Leu) SNV
Germline		 Chr13:48304028 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA388250363 rs_1180053508

3 SubmittersRCV000632939RCV001010099
NM_000321.3(RB1):c.380+3A>T SNV
Germline		 Chr13:48342717 Pathogenic Retinoblastoma Criteria Provided
Single Submitter
 CA658798139 rs_1555282811

1 SubmittersRCV000632932
NM_000321.3(RB1):c.861G>A (p.Glu287=) SNV
Germline		 Chr13:48362957 Pathogenic Retinoblastoma Criteria Provided
Multiple Submitters
No Conflicts
 CA483557973 rs_1555284956

2 SubmittersRCV000632959
NM_000321.3(RB1):c.1093G>C (p.Glu365Gln) SNV
Germline		 Chr13:48368570 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome
Malignant tumor of urinary bladder		 Criteria Provided
Conflicting Classifications
 CA388161247 rs_1270702085

4 SubmittersRCV000632962RCV002448949RCV003459513
NM_000321.3(RB1):c.1215+3A>G SNV
Germline		 Chr13:48373495 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome
Malignant tumor of urinary bladder
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA609576776 rs_1254191370

5 SubmittersRCV000632967RCV002358772RCV004568383RCV004777781
NM_000321.3(RB1):c.1332G>C (p.Gln444His) SNV
Germline		 Chr13:48377034 Pathogenic Retinoblastoma Criteria Provided
Single Submitter
 CA388162194 rs_1555286250

1 SubmittersRCV000632946
NM_000321.3(RB1):c.2198A>G (p.His733Arg) SNV
Germline		 Chr13:48463822 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA388167209 rs_778503152

3 SubmittersRCV000632936RCV001014744
NM_000321.3(RB1):c.2211G>T (p.Glu737Asp) SNV
Germline		 Chr13:48463835 Pathogenic Retinoblastoma Criteria Provided
Single Submitter
 CA388167239 rs_587776787

1 SubmittersRCV000632924
NM_000321.3(RB1):c.109A>G (p.Ser37Gly) SNV
Germline		 Chr13:48304021 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome
RB1-related disorder
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA249842033 rs_896487590

4 SubmittersRCV000632948RCV001017289RCV003420095RCV003235319
NM_000321.3(RB1):c.539C>T (p.Ser180Leu) SNV
Germline		 Chr13:48347863 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome
Condition: not provided
RB1-related disorder		 Criteria Provided
Conflicting Classifications
 CA038630 rs_367654488

7 SubmittersRCV000632972RCV002343228RCV003392470RCV003411502
NM_000321.3(RB1):c.552A>C (p.Glu184Asp) SNV
Germline		 Chr13:48348968 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA388156901 rs_1220347917

3 SubmittersRCV000632958RCV002343227
NM_000321.3(RB1):c.1859C>T (p.Thr620Met) SNV
Germline		 Chr13:48456248 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA032831 rs_554834063

3 SubmittersRCV000632964RCV001013423
NM_000321.3(RB1):c.2221C>T (p.Arg741Cys) SNV
Germline		 Chr13:48465007 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome
Malignant tumor of urinary bladder		 Criteria Provided
Conflicting Classifications
 CA034862 rs_529366765

5 SubmittersRCV000632953RCV001014843RCV003459512
NM_000321.3(RB1):c.2663G>A (p.Ser888Asn) SNV
Germline		 Chr13:48476843 Pathogenic/Likely pathogenic Retinoblastoma Criteria Provided
Multiple Submitters
No Conflicts
 CA388157668 rs_1555295354

2 SubmittersRCV000632966
NM_000321.3(RB1):c.137+6C>T SNV
Germline		 Chr13:48304055 Conflicting classifications of pathogenicity Retinoblastoma Criteria Provided
Conflicting Classifications
 CA891844035 rs_1273298763

3 SubmittersRCV000696561
NM_000321.3(RB1):c.1351C>T (p.Arg451Cys) SNV
Germline		 Chr13:48379612 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA028280 rs_759079385

5 SubmittersRCV000697674RCV002386221
NM_000321.3(RB1):c.1390-2A>C SNV
Germline		 Chr13:48380051 Pathogenic/Likely pathogenic Retinoblastoma
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA388162663 rs_1555286568

2 SubmittersRCV000689697RCV005470490
NM_000321.3(RB1):c.2222G>A (p.Arg741His) SNV
Germline		 Chr13:48465008 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA034875 rs_764520289

4 SubmittersRCV000704707RCV001014847
NM_000321.3(RB1):c.62C>T (p.Pro21Leu) SNV
Germline		 Chr13:48303974 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome
Malignant tumor of urinary bladder		 Criteria Provided
Conflicting Classifications
 CA388250249 rs_1444353743

3 SubmittersRCV000698668RCV002360783RCV003460955
NM_000321.3(RB1):c.83C>T (p.Pro28Leu) SNV
Germline		 Chr13:48303995 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA388250287 rs_776175164

4 SubmittersRCV000688608RCV002440436RCV003117490
NM_000321.3(RB1):c.104A>T (p.Gln35Leu) SNV
Germline		 Chr13:48304016 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA388250336 rs_1480581747

5 SubmittersRCV000699680RCV001017125RCV005231289
NM_000321.3(RB1):c.536G>T (p.Ser179Ile) SNV
Germline		 Chr13:48347860 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome
Malignant tumor of urinary bladder
Bone osteosarcoma
Small cell lung carcinoma
Retinoblastoma
Malignant tumor of urinary bladder		 Criteria Provided
Conflicting Classifications
 CA388156857 rs_1566187849

7 SubmittersRCV000697833RCV001023986RCV003465601RCV005010705
NM_000321.3(RB1):c.539+1G>A SNV
Germline		 Chr13:48347864 Likely pathogenic Retinoblastoma
Hereditary cancer-predisposing syndrome
Malignant tumor of urinary bladder
Condition: not provided
Colon adenocarcinoma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA388156866 rs_1566187856

8 SubmittersRCV000702435RCV001024025RCV004569371RCV004792408RCV005901722
NM_000321.3(RB1):c.782C>T (p.Ala261Val) SNV
Germline		 Chr13:48362878 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA039490 rs_776307088

4 SubmittersRCV000704004RCV003380697
NM_000321.3(RB1):c.1049+3A>G SNV
Germline		 Chr13:48367606 Pathogenic/Likely pathogenic Retinoblastoma
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA645578645 rs_1566194415

2 SubmittersRCV000695277RCV005470495
NM_000321.3(RB1):c.1498+5G>A SNV
Germline		 Chr13:48380246 Pathogenic Retinoblastoma Criteria Provided
Single Submitter
 CA891844537 rs_1566199125

1 SubmittersRCV000693604
NM_000321.3(RB1):c.1988A>G (p.Asn663Ser) SNV
Germline		 Chr13:48459715 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome
RB1-related disorder		 Criteria Provided
Conflicting Classifications
 CA249308126 rs_1007286459

4 SubmittersRCV000692624RCV002422501RCV003892543
NM_000321.3(RB1):c.2065C>T (p.Gln689Ter) SNV
Germline		 Chr13:48459792 Pathogenic Retinoblastoma
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA388166881 rs_1566235470

3 SubmittersRCV000693421RCV005231280
NM_000321.3(RB1):c.2513C>G (p.Ser838Ter) SNV
Germline		 Chr13:48473383 Pathogenic Retinoblastoma Criteria Provided
Single Submitter
 CA388168152 rs_1131690908

1 SubmittersRCV000702285
NM_000321.3(RB1):c.2520+5G>T SNV
Germline		 Chr13:48473395 Pathogenic/Likely pathogenic Retinoblastoma Criteria Provided
Multiple Submitters
No Conflicts
 CA891843747 rs_1131690881

2 SubmittersRCV000687155
NM_000321.3(RB1):c.388A>T (p.Lys130Ter) SNV
Germline		 Chr13:48345087 Pathogenic Retinoblastoma Criteria Provided
Single Submitter
 CA388252607 rs_1566186840

1 SubmittersRCV000690735
NM_000321.3(RB1):c.562G>A (p.Ala188Thr) SNV
Germline		 Chr13:48348978 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA388156923 rs_1189153218

2 SubmittersRCV000692163RCV001024341
NM_000321.3(RB1):c.652T>G (p.Leu218Val) SNV
Germline		 Chr13:48360061 Likely pathogenic Retinoblastoma Criteria Provided
Single Submitter
 CA388158295 rs_1566191596

1 SubmittersRCV000693455
NM_000321.3(RB1):c.752G>A (p.Arg251Gln) SNV
Germline		 Chr13:48362848 Conflicting classifications of pathogenicity Retinoblastoma
Bone osteosarcoma
Small cell lung carcinoma
Retinoblastoma
Malignant tumor of urinary bladder
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA039463 rs_772678500

4 SubmittersRCV000697570RCV000763899RCV002388279
NM_000321.3(RB1):c.761G>A (p.Arg254Lys) SNV
Germline		 Chr13:48362857 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome
Malignant tumor of urinary bladder
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA249274381 rs_200674097

7 SubmittersRCV000699465RCV001026628RCV003460960RCV004768584
NM_000321.3(RB1):c.2078A>G (p.Glu693Gly) SNV
Germline		 Chr13:48459805 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA033921 rs_775195256

4 SubmittersRCV000686681RCV001014347
NM_000321.3(RB1):c.2106+2T>C SNV
Germline		 Chr13:48459835 Conflicting classifications of pathogenicity Retinoblastoma Criteria Provided
Conflicting Classifications
 CA388166987 rs_1566235515

3 SubmittersRCV000696989
NM_000321.3(RB1):c.474G>C (p.Leu158Phe) SNV
Germline		 Chr13:48345173 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome
Condition: not provided
Malignant tumor of urinary bladder		 Criteria Provided
Conflicting Classifications
 CA388252801 rs_1319691084

5 SubmittersRCV000697025RCV002334328RCV003238804RCV004569338
NM_000321.3(RB1):c.1043T>C (p.Ile348Thr) SNV
Germline		 Chr13:48367597 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA388160948 rs_1295421967

2 SubmittersRCV000700816RCV002397449
NM_000321.3(RB1):c.1083C>A (p.Asn361Lys) SNV
Germline		 Chr13:48368560 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA388161199 rs_976503237

2 SubmittersRCV000699895RCV003163242
NM_000321.3(RB1):c.1095G>C (p.Glu365Asp) SNV
Germline		 Chr13:48368572 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA027567 rs_750094760

3 SubmittersRCV000694026RCV002458244
NM_000321.3(RB1):c.1183C>T (p.Gln395Ter) SNV
Germline/somatic		 Chr13:48373460 Pathogenic Retinoblastoma
Malignant tumor of urinary bladder		 Criteria Provided
Single Submitter
 CA388161580 rs_1566196458

2 SubmittersRCV000697663RCV003332236
NM_000321.3(RB1):c.1486G>T (p.Ala496Ser) SNV
Germline		 Chr13:48380229 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA388162902 rs_1366675428

4 SubmittersRCV000687998RCV002388212
NM_000321.3(RB1):c.1499-2A>C SNV
Germline		 Chr13:48381245 Pathogenic Retinoblastoma Criteria Provided
Single Submitter
 CA388163245 rs_1258442224

1 SubmittersRCV000707506
NM_000321.3(RB1):c.1789C>T (p.Gln597Ter) SNV
Germline		 Chr13:48453086 Pathogenic Retinoblastoma Criteria Provided
Multiple Submitters
No Conflicts
 CA388165616 rs_1566233076

2 SubmittersRCV000706340
NM_000321.3(RB1):c.381-1G>A SNV
Germline		 Chr13:48345079 Pathogenic/Likely pathogenic Retinoblastoma
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA388252586 rs_1566186836

4 SubmittersRCV000722024RCV001759441RCV005470508
NM_000321.3(RB1):c.1294A>T (p.Lys432Ter) SNV
Germline		 Chr13:48376996 Pathogenic Retinoblastoma
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA388162113 rs_1566197747

2 SubmittersRCV000722030RCV005235476
NM_000321.3(RB1):c.1389+5G>C SNV
Germline		 Chr13:48379655 Likely pathogenic Condition: not provided
Retinoblastoma		 Criteria Provided
Single Submitter
 CA658655602 rs_1131690859

2 SubmittersRCV000786845RCV002466580
NM_000321.3(RB1):c.1696-2A>G SNV
Germline		 Chr13:48452991 Likely pathogenic Retinoblastoma
Hereditary cancer-predisposing syndrome		 Criteria Provided
Single Submitter
 CA388165416 rs_1593529868

2 SubmittersRCV000786934RCV002397558
NM_000321.3(RB1):c.34A>G (p.Thr12Ala) SNV
Germline		 Chr13:48303946 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA388250195 rs_1566174063

2 SubmittersRCV000822727RCV005260447
NM_000321.3(RB1):c.89A>C (p.Glu30Ala) SNV
Germline		 Chr13:48304001 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome
Malignant tumor of urinary bladder
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA388250297 rs_1482284498

6 SubmittersRCV000799491RCV001018600RCV003467377RCV005231348
NM_000321.3(RB1):c.339G>A (p.Met113Ile) SNV
Germline		 Chr13:48342673 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome
Malignant tumor of urinary bladder
Malignant tumor of urinary bladder
Small cell lung carcinoma
Bone osteosarcoma
Retinoblastoma
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA388252479 rs_1593434250

7 SubmittersRCV000822166RCV001020197RCV004569769RCV005012375RCV004800605
NM_000321.3(RB1):c.859G>T (p.Glu287Ter) SNV
Germline		 Chr13:48362955 Pathogenic Retinoblastoma
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA388159717 rs_1593445246

2 SubmittersRCV000806858RCV002264985
NM_000321.3(RB1):c.897T>A (p.Phe299Leu) SNV
Germline		 Chr13:48364929 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome
Malignant tumor of urinary bladder
Retinoblastoma
Small cell lung carcinoma
Bone osteosarcoma		 Criteria Provided
Conflicting Classifications
 CA039787 rs_772362181

5 SubmittersRCV000812372RCV002370189RCV005012354
NM_000321.3(RB1):c.1067C>T (p.Thr356Ile) SNV
Germline		 Chr13:48368544 Conflicting classifications of pathogenicity Retinoblastoma
Malignant tumor of urinary bladder
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA027515 rs_774525913

4 SubmittersRCV000815778RCV003461237RCV005629928RCV005722210
NM_000321.3(RB1):c.1163T>G (p.Ile388Ser) SNV
Germline		 Chr13:48373440 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome
Condition: not provided
Malignant tumor of urinary bladder		 Criteria Provided
Conflicting Classifications
 CA027748 rs_373623059

6 SubmittersRCV000823567RCV002319924RCV003128716RCV003467519
NM_000321.3(RB1):c.1378A>G (p.Met460Val) SNV
Germline		 Chr13:48379639 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA388162628 rs_1258210045

3 SubmittersRCV000794747RCV002386391
NM_000321.3(RB1):c.1410T>G (p.Ile470Met) SNV
Germline		 Chr13:48380073 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome
Malignant tumor of urinary bladder		 Criteria Provided
Conflicting Classifications
 CA249281342 rs_578226820

6 SubmittersRCV000812984RCV002255534RCV003461212
NM_000321.3(RB1):c.1625T>A (p.Leu542Ter) SNV
Germline		 Chr13:48381373 Pathogenic Retinoblastoma
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA388163807 rs_1593457065

2 SubmittersRCV000799793RCV002397604
NM_000321.3(RB1):c.1659T>A (p.Cys553Ter) SNV
Germline		 Chr13:48381407 Pathogenic Retinoblastoma Criteria Provided
Single Submitter
 CA388163957 rs_1593457108

1 SubmittersRCV000816000
NM_000321.3(RB1):c.1667G>A (p.Arg556Gln) SNV
Germline		 Chr13:48381415 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA029288 rs_773116120

5 SubmittersRCV000792877RCV002397570
NM_000321.3(RB1):c.1815G>A (p.Met605Ile) SNV
Germline		 Chr13:48456204 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA388165686 rs_1472724809

5 SubmittersRCV000804246RCV002406789RCV004588266
NM_000321.3(RB1):c.1883C>T (p.Ala628Val) SNV
Germline		 Chr13:48456272 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA388165983 rs_1329826610

4 SubmittersRCV000802384RCV004028105
NM_000321.3(RB1):c.2206C>T (p.Gln736Ter) SNV
Germline		 Chr13:48463830 Pathogenic Retinoblastoma Criteria Provided
Multiple Submitters
No Conflicts
 CA388167225 rs_1593538220

3 SubmittersRCV000793849
NM_000321.3(RB1):c.2284C>T (p.Gln762Ter) SNV
Germline		 Chr13:48465070 Pathogenic Retinoblastoma Criteria Provided
Multiple Submitters
No Conflicts
 CA388167645 rs_1593539225

2 SubmittersRCV000801885
NM_000321.3(RB1):c.2339C>G (p.Ser780Ter) SNV
Germline		 Chr13:48465218 Pathogenic Retinoblastoma Criteria Provided
Multiple Submitters
No Conflicts
 CA388167776 rs_1593539366

2 SubmittersRCV000819160
NM_000321.3(RB1):c.2381G>C (p.Ser794Thr) SNV
Germline		 Chr13:48465260 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome
Malignant tumor of urinary bladder		 Criteria Provided
Conflicting Classifications
 CA388167861 rs_1240896329

4 SubmittersRCV000795079RCV002458421RCV004569532
NM_000321.3(RB1):c.2620A>C (p.Lys874Gln) SNV
Germline		 Chr13:48476800 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome
Malignant tumor of urinary bladder		 Criteria Provided
Conflicting Classifications
 CA249287944 rs_757818801

3 SubmittersRCV000814186RCV002433970RCV003461220
NM_000321.3(RB1):c.2729G>A (p.Arg910Gln) SNV
Germline		 Chr13:48480013 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome
Malignant tumor of urinary bladder		 Criteria Provided
Conflicting Classifications
 CA388158244 rs_1360367329

4 SubmittersRCV000808820RCV003344066RCV003467429
NM_000321.3(RB1):c.1215+10A>G SNV
Germline		 Chr13:48373502 Conflicting classifications of pathogenicity Retinoblastoma
Malignant tumor of urinary bladder		 Criteria Provided
Conflicting Classifications
 CA027814 rs_746116477

2 SubmittersRCV000798717RCV004569559
NM_000321.3(RB1):c.1389+1G>C SNV
Germline		 Chr13:48379651 Pathogenic Retinoblastoma Criteria Provided
Multiple Submitters
No Conflicts
 CA388162657 rs_1060503087

2 SubmittersRCV000804002
NM_000321.3(RB1):c.2106+2T>A SNV
Germline		 Chr13:48459835 Pathogenic Retinoblastoma Criteria Provided
Single Submitter
 CA388166988 rs_1566235515

1 SubmittersRCV000801676
NM_000321.3(RB1):c.1814+11T>C SNV
Germline		 Chr13:48453122 Conflicting classifications of pathogenicity Condition: not provided
Retinoblastoma
not specified
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA032650 rs_771369373

4 SubmittersRCV000834973RCV001481225RCV002249535RCV002256557
NM_000321.3(RB1):c.941T>A (p.Val314Asp) SNV
Germline		 Chr13:48367495 Conflicting classifications of pathogenicity Retinoblastoma
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA040028 rs_780006952

4 SubmittersRCV000866271RCV002510994RCV002442821
NM_000321.3(RB1):c.2393G>A (p.Arg798Gln) SNV
Germline		 Chr13:48465272 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Thyroid cancer, nonmedullary, 1		 Criteria Provided
Conflicting Classifications
 CA035464 rs_374523971

10 SubmittersRCV000870444RCV001015383RCV002249562RCV002510996RCV005907053
NM_000321.3(RB1):c.2464C>G (p.Pro822Ala) SNV
Germline		 Chr13:48465343 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA035683 rs_368413787

4 SubmittersRCV000868331RCV001015621RCV003228999
NM_000321.3(RB1):c.608-7T>G SNV
Germline		 Chr13:48360010 Conflicting classifications of pathogenicity Retinoblastoma Criteria Provided
Conflicting Classifications
 CA039089 rs_746360576

3 SubmittersRCV000949866
NM_000321.3(RB1):c.2714-7T>C SNV
Germline		 Chr13:48479991 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA037347 rs_751697681

5 SubmittersRCV000973882RCV002256637RCV006450831
NM_000321.3(RB1):c.397A>C (p.Asn133His) SNV
Germline		 Chr13:48345096 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA249846375 rs_3092900

3 SubmittersRCV000981682RCV002354884
NM_000321.3(RB1):c.1655G>A (p.Arg552Gln) SNV
Germline		 Chr13:48381403 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA249282003 rs_146236493

4 SubmittersRCV000983840RCV002258081
NM_000321.3(RB1):c.1421+6T>C SNV
Germline		 Chr13:48380090 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA028741 rs_768192190

2 SubmittersRCV000983803RCV002258080
NM_000321.3(RB1):c.1216-2A>G SNV
Germline		 Chr13:48376916 Pathogenic Retinoblastoma Criteria Provided
Multiple Submitters
No Conflicts
 CA388161922 rs_1593453973

2 SubmittersRCV000989117
NM_000321.3(RB1):c.2447C>A (p.Ser816Ter) SNV
Unknown		 Chr13:48465326 Pathogenic Retinoblastoma Criteria Provided
Single Submitter
 CA388168005 rs_1593539493

1 SubmittersRCV000989138
NM_000321.3(RB1):c.-1C>T SNV
Germline		 Chr13:48303912 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Retinoblastoma		 Criteria Provided
Conflicting Classifications
 CA033706 rs_754354560

4 SubmittersRCV001013987RCV003514455
NM_000321.3(RB1):c.74C>T (p.Pro25Leu) SNV
Germline		 Chr13:48303986 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Retinoblastoma		 Criteria Provided
Conflicting Classifications
 CA388250274 rs_1593412158

4 SubmittersRCV001026505RCV001862369
NM_000321.3(RB1):c.354T>A (p.Thr118=) SNV
Germline		 Chr13:48342688 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Retinoblastoma		 Criteria Provided
Conflicting Classifications
 CA249846143 rs_951251256

5 SubmittersRCV001020579RCV001069942
NM_000321.3(RB1):c.395T>A (p.Phe132Tyr) SNV
Germline		 Chr13:48345094 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Retinoblastoma		 Criteria Provided
Conflicting Classifications
 CA249846374 rs_762380973

3 SubmittersRCV001021530RCV001035290
NM_000321.3(RB1):c.560C>T (p.Ser187Phe) SNV
Germline		 Chr13:48348976 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Retinoblastoma
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA038793 rs_770277291

6 SubmittersRCV001024323RCV001246900RCV004761881
NM_000321.3(RB1):c.1240A>C (p.Ser414Arg) SNV
Germline		 Chr13:48376942 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Retinoblastoma
Bone osteosarcoma
Malignant tumor of urinary bladder
Small cell lung carcinoma
Retinoblastoma		 Criteria Provided
Conflicting Classifications
 CA249280048 rs_974956317

3 SubmittersRCV001010519RCV001043640RCV005012442
NM_000321.3(RB1):c.1338C>A (p.Tyr446Ter) SNV
Germline		 Chr13:48379599 Pathogenic Hereditary cancer-predisposing syndrome
Condition: not provided
Retinoblastoma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA388162540 rs_1593455621

4 SubmittersRCV001011110RCV001811622RCV001788396
NM_000321.3(RB1):c.1389A>G (p.Ser463=) SNV
Germline		 Chr13:48379650 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Retinoblastoma		 Criteria Provided
Conflicting Classifications
 CA483559240 rs_1486168292

4 SubmittersRCV001011323RCV003626657
NM_000321.3(RB1):c.1741G>A (p.Gly581Arg) SNV
Germline		 Chr13:48453038 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Retinoblastoma
Malignant tumor of urinary bladder		 Criteria Provided
Conflicting Classifications
 CA249305436 rs_375645171

4 SubmittersRCV001012919RCV001054750RCV004569911
NM_000321.3(RB1):c.1827T>C (p.Pro609=) SNV
Germline		 Chr13:48456216 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Retinoblastoma		 Criteria Provided
Conflicting Classifications
 CA483558294 rs_1593531889

3 SubmittersRCV001013334RCV003442142RCV006464989
NM_000321.3(RB1):c.2038A>G (p.Ile680Val) SNV
Germline		 Chr13:48459765 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Retinoblastoma		 Criteria Provided
Conflicting Classifications
 CA388166818 rs_1422900655

2 SubmittersRCV001014097RCV001322691
NM_000321.3(RB1):c.2198A>T (p.His733Leu) SNV
Germline		 Chr13:48463822 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Retinoblastoma
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA249309812 rs_778503152

5 SubmittersRCV001014746RCV001306596RCV003442144
NM_000321.3(RB1):c.2431A>G (p.Ser811Gly) SNV
Germline		 Chr13:48465310 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Retinoblastoma		 Criteria Provided
Conflicting Classifications
 CA388167966 rs_1371240619

4 SubmittersRCV001015510RCV001295727
NM_000321.3(RB1):c.2432G>A (p.Ser811Asn) SNV
Germline		 Chr13:48465311 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Retinoblastoma
Malignant tumor of urinary bladder		 Criteria Provided
Conflicting Classifications
 CA388167968 rs_1220980701

3 SubmittersRCV001015514RCV001860796RCV003461352
NM_000321.3(RB1):c.2615T>C (p.Leu872Pro) SNV
Germline		 Chr13:48476795 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Retinoblastoma
RB1-related disorder
Malignant tumor of urinary bladder		 Criteria Provided
Conflicting Classifications
 CA388157474 rs_1470516350

6 SubmittersRCV001016108RCV001359224RCV003411950RCV004569948
NM_000321.3(RB1):c.2759T>C (p.Met920Thr) SNV
Germline		 Chr13:48480043 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Retinoblastoma
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA037404 rs_148501460

4 SubmittersRCV001016519RCV001233281RCV005416440
NM_000321.3(RB1):c.138-1G>A SNV
Germline		 Chr13:48307279 Pathogenic Hereditary cancer-predisposing syndrome
Retinoblastoma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA388250416 rs_1593414337

3 SubmittersRCV001011288RCV003514452
NM_000321.3(RB1):c.1422-4T>G SNV
Germline		 Chr13:48380161 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Retinoblastoma		 Criteria Provided
Conflicting Classifications
 CA249281416 rs_201554179

4 SubmittersRCV001011513RCV001110584
NM_000321.3(RB1):c.2490-5G>A SNV
Germline		 Chr13:48473355 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Retinoblastoma		 Criteria Provided
Conflicting Classifications
 CA915948575 rs_1593544633

3 SubmittersRCV001015687RCV002068917
NM_000321.3(RB1):c.161A>G (p.Glu54Gly) SNV
Germline		 Chr13:48307303 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome
Malignant tumor of urinary bladder		 Criteria Provided
Conflicting Classifications
 CA388250474 rs_1952089249

4 SubmittersRCV001043064RCV003380809RCV004570142
NM_000321.3(RB1):c.245C>A (p.Ser82Ter) SNV
Germline		 Chr13:48307387 Pathogenic Retinoblastoma Criteria Provided
Single Submitter
 CA388250661 rs_755704180

1 SubmittersRCV001039105
NM_000321.3(RB1):c.446C>T (p.Ser149Leu) SNV
Germline		 Chr13:48345145 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome
Malignant tumor of urinary bladder		 Criteria Provided
Conflicting Classifications
 CA038186 rs_587778870

3 SubmittersRCV001056115RCV002327320RCV004570214
NM_000321.3(RB1):c.634C>A (p.Leu212Met) SNV
Germline		 Chr13:48360043 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA388158198 rs_147085238

5 SubmittersRCV001057563RCV002365719RCV004773270
NM_000321.3(RB1):c.965A>G (p.Glu322Gly) SNV
Germline		 Chr13:48367519 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA040114 rs_142620145

3 SubmittersRCV001044302RCV003160322
NM_000321.3(RB1):c.1128G>C (p.Arg376Ser) SNV
Germline		 Chr13:48373405 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome
Malignant tumor of urinary bladder		 Criteria Provided
Conflicting Classifications
 CA249278758 rs_908738769

3 SubmittersRCV001051798RCV002320287RCV004570187
NM_000321.3(RB1):c.1496G>A (p.Ser499Asn) SNV
Germline		 Chr13:48380239 Conflicting classifications of pathogenicity Retinoblastoma
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA028947 rs_774706300

5 SubmittersRCV001050300RCV002286805RCV002393246
NM_000321.3(RB1):c.1750G>T (p.Asp584Tyr) SNV
Germline		 Chr13:48453047 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome
Malignant tumor of urinary bladder
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA388165533 rs_1343212063

6 SubmittersRCV001057017RCV002400325RCV003462566RCV005601674
NM_000321.3(RB1):c.1766C>T (p.Ala589Val) SNV
Germline		 Chr13:48453063 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA032509 rs_779045727

3 SubmittersRCV001067783RCV002402461RCV004773289
NM_000321.3(RB1):c.1891C>T (p.Gln631Ter) SNV
Germline/somatic		 Chr13:48456280 Pathogenic Retinoblastoma
Condition: not provided
Neoplasm		 Criteria Provided
Multiple Submitters
No Conflicts
 CA388166017 rs_1217977493

4 SubmittersRCV001066595RCV003117734RCV004671208
NM_000321.3(RB1):c.2027T>G (p.Leu676Ter) SNV
Germline		 Chr13:48459754 Pathogenic Retinoblastoma
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA388166792 rs_1566235448

3 SubmittersRCV001064630RCV002509605
NM_000321.3(RB1):c.2344A>G (p.Ile782Val) SNV
Germline		 Chr13:48465223 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome
Malignant tumor of urinary bladder		 Criteria Provided
Conflicting Classifications
 CA388167785 rs_1283644725

5 SubmittersRCV001035332RCV002427480RCV003461427
NM_000321.3(RB1):c.1960+1G>C SNV
Germline		 Chr13:48456350 Pathogenic Retinoblastoma Criteria Provided
Multiple Submitters
No Conflicts
 CA388166320 rs_1949360306

2 SubmittersRCV001069328
NM_000321.3(RB1):c.2211+1G>T SNV
Germline		 Chr13:48463836 Pathogenic Retinoblastoma
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA388167241 rs_1949420231

2 SubmittersRCV001056968RCV001593230
NM_000321.3(RB1):c.1332+3A>T SNV
Germline		 Chr13:48377037 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA916081691 rs_1952832685

2 SubmittersRCV001036639RCV004659298
NM_000321.3(RB1):c.2326-2A>G SNV
Germline		 Chr13:48465203 Pathogenic/Likely pathogenic Retinoblastoma
Hereditary cancer-predisposing syndrome
Hereditary retinoblastoma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA388167744 rs_1949432057

3 SubmittersRCV001057987RCV004950207RCV006555080
NM_000321.3(RB1):c.939+2T>C SNV
Germline		 Chr13:48364973 Pathogenic Retinoblastoma Criteria Provided
Single Submitter
 CA388160110 rs_1952680837

1 SubmittersRCV001051823
NM_000321.3(RB1):c.719-2A>T SNV
Unknown		 Chr13:48362813 Likely pathogenic Retinoblastoma Criteria Provided
Single Submitter
 CA388159204 rs_1952654925

1 SubmittersRCV001196348
NM_000321.3(RB1):c.1961-1G>T SNV
Germline		 Chr13:48459687 Pathogenic Retinoblastoma Criteria Provided
Multiple Submitters
No Conflicts
 CA388166671 rs_1949383286

2 SubmittersRCV001196939
NM_000321.3(RB1):c.1681C>T (p.Leu561Phe) SNV
Germline		 Chr13:48381429 Conflicting classifications of pathogenicity Retinoblastoma
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA029297 rs_761257231

5 SubmittersRCV001220561RCV005601714RCV003163697
NM_000321.3(RB1):c.1915C>T (p.Gln639Ter) SNV
Germline		 Chr13:48456304 Pathogenic Retinoblastoma Criteria Provided
Multiple Submitters
No Conflicts
 CA388166121 rs_1949359779

2 SubmittersRCV001219872
NM_000321.3(RB1):c.2428A>T (p.Lys810Ter) SNV
Germline		 Chr13:48465307 Pathogenic Retinoblastoma Criteria Provided
Single Submitter
 CA388167959 rs_1949433250

1 SubmittersRCV001214682
NM_000321.3(RB1):c.2593G>T (p.Gly865Ter) SNV
Germline		 Chr13:48476773 Pathogenic Retinoblastoma Criteria Provided
Single Submitter
 CA388157384 rs_1949506548

1 SubmittersRCV001214983
NM_000321.3(RB1):c.80C>G (p.Pro27Arg) SNV
Germline		 Chr13:48303992 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA249842029 rs_925399787

4 SubmittersRCV001213879RCV002256701
NM_000321.3(RB1):c.175G>C (p.Ala59Pro) SNV
Germline		 Chr13:48307317 Conflicting classifications of pathogenicity Retinoblastoma
Malignant tumor of urinary bladder		 Criteria Provided
Conflicting Classifications
 CA032482 rs_184754468

2 SubmittersRCV001203295RCV003462681
NM_000321.3(RB1):c.2461A>G (p.Thr821Ala) SNV
Germline		 Chr13:48465340 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA035646 rs_761015353

2 SubmittersRCV001208925RCV004033749
NM_000321.3(RB1):c.1960+1G>T SNV
Germline		 Chr13:48456350 Pathogenic/Likely pathogenic Retinoblastoma
Hereditary retinoblastoma
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA388166321 rs_1949360306

5 SubmittersRCV001206314RCV006554609RCV006557205
NM_000321.3(RB1):c.1960+2T>G SNV
Germline/somatic		 Chr13:48456351 Pathogenic Retinoblastoma
Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype		 Criteria Provided
Single Submitter
 CA388166323 rs_587776780

2 SubmittersRCV001213175RCV006254235
NM_000321.3(RB1):c.2520+4A>G SNV
Germline		 Chr13:48473394 Likely pathogenic Retinoblastoma Criteria Provided
Multiple Submitters
No Conflicts
 CA645571661 rs_1949484627

2 SubmittersRCV001221434
NM_000321.3(RB1):c.380G>T (p.Ser127Ile) SNV
Germline		 Chr13:48342714 Likely pathogenic Retinoblastoma Criteria Provided
Single Submitter
 CA388252574 rs_1131690843

1 SubmittersRCV001231903
NM_000321.3(RB1):c.466G>T (p.Asp156Tyr) SNV
Germline		 Chr13:48345165 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA249846378 rs_1034616967

3 SubmittersRCV001226438RCV002339613RCV005639290
NM_000321.3(RB1):c.1976A>G (p.Tyr659Cys) SNV
Germline		 Chr13:48459703 Conflicting classifications of pathogenicity Retinoblastoma
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA033544 rs_751799266

3 SubmittersRCV001230746RCV003227011RCV004033102
NM_000321.3(RB1):c.1895C>A (p.Ala632Glu) SNV
Germline		 Chr13:48456284 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA388166039 rs_1949359489

4 SubmittersRCV001242805RCV002411895RCV004774348
NM_000321.3(RB1):c.381-2A>G SNV
Germline		 Chr13:48345078 Pathogenic Retinoblastoma
Hereditary retinoblastoma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA388252584 rs_1952480014

2 SubmittersRCV001243830RCV006555081
NM_000321.3(RB1):c.473T>A (p.Leu158Ter) SNV
Germline		 Chr13:48345172 Pathogenic Retinoblastoma No Assertion Criteria Provided
 CA388252798 rs_1952481401

1 SubmittersRCV001257127
NM_000321.3(RB1):c.1215+2T>C SNV
Germline		 Chr13:48373494 Pathogenic Retinoblastoma Criteria Provided
Single Submitter
 CA388161723 rs_1060503074

2 SubmittersRCV001257129
NM_000321.3(RB1):c.1633G>T (p.Glu545Ter) SNV
Germline		 Chr13:48381381 Pathogenic Retinoblastoma
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA388163841 rs_1948534542

5 SubmittersRCV001257128RCV002402800
NM_000321.3(RB1):c.1498+2T>G SNV
Germline/somatic		 Chr13:48380243 Pathogenic/Likely pathogenic Retinoblastoma
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA388162932 rs_1948523741

2 SubmittersRCV001290127RCV002393689
NM_000321.3(RB1):c.1901C>G (p.Ser634Ter) SNV
Somatic		 Chr13:48456290 Pathogenic Retinoblastoma Criteria Provided
Single Submitter
 CA388166060 rs_1949359603

1 SubmittersRCV001290128
NM_000321.3(RB1):c.939+1G>A SNV
Germline		 Chr13:48364972 Pathogenic Retinoblastoma
Sarcoma		 Criteria Provided
Single Submitter
 CA388160104 rs_2138116708

2 SubmittersRCV001523805RCV005910914
NM_000321.3(RB1):c.1206C>T (p.Ser402=) SNV
Germline		 Chr13:48373483 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome
Bone osteosarcoma
Malignant tumor of urinary bladder
Small cell lung carcinoma
Retinoblastoma		 Criteria Provided
Conflicting Classifications
 CA027808 rs_752679968

6 SubmittersRCV001523806RCV003166626RCV005012722
NM_000321.3(RB1):c.1333-1G>A SNV
Germline		 Chr13:48379593 Pathogenic Retinoblastoma
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA388162530 rs_2138140730

4 SubmittersRCV001523795RCV002379981
NM_000321.3(RB1):c.1568T>A (p.Leu523Ter) SNV
Germline		 Chr13:48381316 Pathogenic Retinoblastoma Criteria Provided
Multiple Submitters
No Conflicts
 CA388163549 rs_2138145156

2 SubmittersRCV001523841
NM_000321.3(RB1):c.2293A>T (p.Lys765Ter) SNV
Germline		 Chr13:48465079 Pathogenic Retinoblastoma
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA388167664 rs_2138344925

3 SubmittersRCV001523846RCV004944961
NM_000321.3(RB1):c.2308C>T (p.Gln770Ter) SNV
Germline		 Chr13:48465094 Pathogenic Retinoblastoma Criteria Provided
Multiple Submitters
No Conflicts
 CA388167698 rs_2138344987

2 SubmittersRCV001523844
NM_000321.3(RB1):c.2325+1G>T SNV
Germline		 Chr13:48465112 Pathogenic Retinoblastoma Criteria Provided
Multiple Submitters
No Conflicts
 CA388167739 rs_1131690882

2 SubmittersRCV001523802
NM_000321.3(RB1):c.2520+6T>C SNV
Germline		 Chr13:48473396 Likely pathogenic Retinoblastoma Criteria Provided
Single Submitter
 CA645571662 rs_2138354759

1 SubmittersRCV001523801
NM_000321.3(RB1):c.-149G>T SNV
Germline		 Chr13:48303764 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Malignant tumor of urinary bladder		 Criteria Provided
Conflicting Classifications
 CA249842006 rs_1014776340

6 SubmittersRCV001292913RCV002256730RCV002462902RCV003120538RCV003462853
NM_000321.3(RB1):c.1960+1G>A SNV
Unknown		 Chr13:48456350 Pathogenic Retinoblastoma Criteria Provided
Single Submitter
 CA388166319 rs_1949360306

1 SubmittersRCV001292823
NM_000321.3(RB1):c.264+5G>A SNV
Germline		 Chr13:48307411 Likely pathogenic Retinoblastoma Criteria Provided
Multiple Submitters
No Conflicts
 CA2089953700 rs_1131690853

2 SubmittersRCV001301388
NM_000321.3(RB1):c.739A>G (p.Asn247Asp) SNV
Germline		 Chr13:48362835 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome
RB1-related disorder		 Criteria Provided
Conflicting Classifications
 CA388159280 rs_1429451823

5 SubmittersRCV001303031RCV002384365RCV003416174
NM_000321.3(RB1):c.2106+3A>G SNV
Germline		 Chr13:48459836 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome
Malignant tumor of urinary bladder		 Criteria Provided
Conflicting Classifications
 CA698682465 rs_1353683992

4 SubmittersRCV001312652RCV003166780RCV003469537
NM_000321.3(RB1):c.1084C>T (p.Leu362Phe) SNV
Germline		 Chr13:48368561 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA388161207 rs_1952727001

2 SubmittersRCV001338265RCV003169590
NM_000321.3(RB1):c.1589A>G (p.Lys530Arg) SNV
Germline		 Chr13:48381337 Pathogenic/Likely pathogenic Retinoblastoma
Hereditary retinoblastoma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA388163655 rs_1948534047

3 SubmittersRCV001340617RCV006555088
NM_000321.3(RB1):c.2372A>G (p.Lys791Arg) SNV
Germline		 Chr13:48465251 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA035387 rs_777670056

4 SubmittersRCV001349024RCV002447426
NM_000321.3(RB1):c.2489+3G>T SNV
Germline		 Chr13:48465371 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA249310563 rs_1057505320

2 SubmittersRCV001346737RCV002431977
NM_000321.3(RB1):c.2569C>G (p.Arg857Gly) SNV
Germline		 Chr13:48476749 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA388157283 rs_1032510984

2 SubmittersRCV001339753RCV002431949
NM_000321.3(RB1):c.1331A>C (p.Gln444Pro) SNV
Germline		 Chr13:48377033 Likely pathogenic Retinoblastoma Criteria Provided
Single Submitter
 CA388162191 rs_2138136810

1 SubmittersRCV001374400
NM_000321.3(RB1):c.939G>A (p.Glu313=) SNV
Germline		 Chr13:48364971 Pathogenic/Likely pathogenic Retinoblastoma Criteria Provided
Multiple Submitters
No Conflicts
 CA483558084 rs_2138116702

2 SubmittersRCV001377729
NM_000321.3(RB1):c.1199T>C (p.Leu400Pro) SNV
Germline		 Chr13:48373476 Likely pathogenic Retinoblastoma Criteria Provided
Single Submitter
 CA388161647 rs_2138131298

1 SubmittersRCV001378940
NM_000321.3(RB1):c.100G>T (p.Glu34Ter) SNV
Germline		 Chr13:48304012 Pathogenic Retinoblastoma Criteria Provided
Single Submitter
 CA388250326 rs_2138027798

1 SubmittersRCV001385813
NM_000321.3(RB1):c.191T>G (p.Leu64Ter) SNV
Germline		 Chr13:48307333 Pathogenic Retinoblastoma
Condition: not provided
Hereditary retinoblastoma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA388250543 rs_2138034131

3 SubmittersRCV001389644RCV005627432RCV006554623
NM_000321.3(RB1):c.264+1G>T SNV
Germline		 Chr13:48307407 Pathogenic Retinoblastoma Criteria Provided
Single Submitter
 CA388250703 rs_1131690907

1 SubmittersRCV001386155
NM_000321.3(RB1):c.566T>A (p.Leu189Ter) SNV
Germline		 Chr13:48348982 Pathogenic Retinoblastoma Criteria Provided
Single Submitter
 CA388156931 rs_2138093555

1 SubmittersRCV001380247
NM_000321.3(RB1):c.862-1G>C SNV
Germline		 Chr13:48364893 Pathogenic Retinoblastoma Criteria Provided
Single Submitter
 CA388159821 rs_2138116265

1 SubmittersRCV001388712
NM_000321.3(RB1):c.1049+2T>A SNV
Germline		 Chr13:48367605 Pathogenic Retinoblastoma Criteria Provided
Single Submitter
 CA249276618 rs_41287453

1 SubmittersRCV001380199
NM_000321.3(RB1):c.1237G>T (p.Glu413Ter) SNV
Germline/somatic		 Chr13:48376939 Pathogenic Retinoblastoma
Neoplasm		 Criteria Provided
Multiple Submitters
No Conflicts
 CA388161978 rs_2138136261

3 SubmittersRCV001380999RCV004671380
NM_000321.3(RB1):c.1332G>A (p.Gln444=) SNV
Germline		 Chr13:48377034 Pathogenic Retinoblastoma
Condition: not provided
Hepatocellular carcinoma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA483559134 rs_1555286250

4 SubmittersRCV001383900RCV004774442RCV005912637
NM_000321.3(RB1):c.1422-2A>G SNV
Germline		 Chr13:48380163 Pathogenic Retinoblastoma Criteria Provided
Multiple Submitters
No Conflicts
 CA388162750 rs_1395304450

2 SubmittersRCV001383901
NM_000321.3(RB1):c.1597G>T (p.Glu533Ter) SNV
Germline		 Chr13:48381345 Pathogenic Retinoblastoma Criteria Provided
Multiple Submitters
No Conflicts
 CA388163694 rs_1237070816

2 SubmittersRCV001383899
NM_000321.3(RB1):c.2106+1G>A SNV
Germline		 Chr13:48459834 Pathogenic Retinoblastoma Criteria Provided
Single Submitter
 CA388166983 rs_1949385207

1 SubmittersRCV001389511
NM_000321.3(RB1):c.2212-1G>C SNV
Germline		 Chr13:48464997 Pathogenic Retinoblastoma Criteria Provided
Single Submitter
 CA388167444 rs_587776786

1 SubmittersRCV001390325
NM_000321.3(RB1):c.2236G>T (p.Glu746Ter) SNV
Germline		 Chr13:48465022 Pathogenic Retinoblastoma Criteria Provided
Multiple Submitters
No Conflicts
 CA388167533 rs_958914211

2 SubmittersRCV001381396
NM_000321.3(RB1):c.2420C>G (p.Ser807Ter) SNV
Germline		 Chr13:48465299 Pathogenic Retinoblastoma
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA388167945 rs_2138345919

2 SubmittersRCV001387462RCV003120595
NM_000321.3(RB1):c.2520+5G>C SNV
Germline		 Chr13:48473395 Pathogenic/Likely pathogenic Retinoblastoma
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2499222464 rs_1131690881

4 SubmittersRCV001384072RCV002456599
NM_000321.3(RB1):c.2536C>T (p.Gln846Ter) SNV
Germline		 Chr13:48476716 Pathogenic Retinoblastoma Criteria Provided
Single Submitter
 CA388168215 rs_1231557654

1 SubmittersRCV001384073
NM_000321.3(RB1):c.2663+1G>T SNV
Germline		 Chr13:48476844 Pathogenic Retinoblastoma Criteria Provided
Single Submitter
 CA388157675 rs_2138359672

1 SubmittersRCV001390327
NM_000321.3(RB1):c.1128-5T>C SNV
Germline		 Chr13:48373400 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA2499222443 rs_2138130820

2 SubmittersRCV001445150RCV005722460
NM_000321.3(RB1):c.2490-4A>G SNV
Germline		 Chr13:48473356 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA035884 rs_372449026

3 SubmittersRCV001478711RCV005722472
NM_000321.3(RB1):c.2211+2T>C SNV
Germline		 Chr13:48463837 Pathogenic/Likely pathogenic Retinoblastoma
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary retinoblastoma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA388167243 rs_2138342748

6 SubmittersRCV001533519RCV002511095RCV004656624RCV006554626
NM_000321.3(RB1):c.2325+2T>A SNV
Germline		 Chr13:48465113 Pathogenic Retinoblastoma Criteria Provided
Single Submitter
 CA388167740 rs_2138345077

1 SubmittersRCV001533523
NM_000321.3(RB1):c.1215+1G>T SNV
Germline		 Chr13:48373493 Pathogenic/Likely pathogenic Condition: not provided
Hereditary cancer-predisposing syndrome
Retinoblastoma
Lung cancer		 Criteria Provided
Multiple Submitters
No Conflicts
 CA388161720 rs_587776783

4 SubmittersRCV001725796RCV004039991RCV004556842RCV005920559
NM_000321.3(RB1):c.861+1G>T SNV
Germline		 Chr13:48362958 Pathogenic Condition: not provided
Retinoblastoma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA388159725 rs_2138112893

2 SubmittersRCV001806855RCV005095189
NM_000321.3(RB1):c.373G>T (p.Glu125Ter) SNV
Germline/somatic		 Chr13:48342707 Pathogenic/Likely pathogenic Retinoblastoma
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA388252559 rs_1952457111

3 SubmittersRCV001809313RCV002343870
NM_000321.3(RB1):c.610G>A (p.Glu204Lys) SNV
Germline		 Chr13:48360019 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA388158089 rs_1340261233

2 SubmittersRCV001959630RCV005264130
NM_000321.3(RB1):c.806A>G (p.Asn269Ser) SNV
Germline		 Chr13:48362902 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA388159507 rs_1952656398

2 SubmittersRCV001959657RCV004656791
NM_000321.3(RB1):c.2027T>A (p.Leu676Ter) SNV
Germline		 Chr13:48459754 Pathogenic Retinoblastoma Criteria Provided
Single Submitter
 CA388166794 rs_1566235448

1 SubmittersRCV001924110
NM_000321.3(RB1):c.118G>T (p.Glu40Ter) SNV
Germline		 Chr13:48304030 Pathogenic Retinoblastoma Criteria Provided
Single Submitter
 CA388250366 rs_1593412262

1 SubmittersRCV001941800
NM_000321.3(RB1):c.184C>T (p.Gln62Ter) SNV
Germline		 Chr13:48307326 Pathogenic Retinoblastoma
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA388250525 rs_2138034088

2 SubmittersRCV001938303RCV006287533
NM_000321.3(RB1):c.234G>A (p.Trp78Ter) SNV
Germline/somatic		 Chr13:48307376 Pathogenic Retinoblastoma
Malignant tumor of urinary bladder		 Criteria Provided
Single Submitter
 CA388250637 rs_2138034427

2 SubmittersRCV001950933RCV003332367
NM_000321.3(RB1):c.381T>C (p.Ser127=) SNV
Germline		 Chr13:48345080 Conflicting classifications of pathogenicity Retinoblastoma
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA038058 rs_780321508

3 SubmittersRCV002018267RCV004694137RCV004947047
NM_000321.3(RB1):c.2211+5G>A SNV
Germline		 Chr13:48463840 Pathogenic Retinoblastoma
Sarcoma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2573149615 rs_1593538236

3 SubmittersRCV001953851RCV005925359
NM_000321.3(RB1):c.610G>T (p.Glu204Ter) SNV
Germline		 Chr13:48360019 Pathogenic Retinoblastoma Criteria Provided
Single Submitter
 CA388158091 rs_1340261233

1 SubmittersRCV001953895
NM_000321.3(RB1):c.137+1G>A SNV
Germline		 Chr13:48304050 Pathogenic Retinoblastoma Criteria Provided
Multiple Submitters
No Conflicts
 CA388250407 rs_1131690855

2 SubmittersRCV001997090
NM_000321.3(RB1):c.1333-1G>C SNV
Germline		 Chr13:48379593 Pathogenic Retinoblastoma Criteria Provided
Single Submitter
 CA388162529 rs_2138140730

1 SubmittersRCV001905470
NM_000321.3(RB1):c.939+1G>C SNV
Germline		 Chr13:48364972 Pathogenic Retinoblastoma Criteria Provided
Single Submitter
 CA388160106 rs_2138116708

1 SubmittersRCV001919410
NM_000321.3(RB1):c.963C>G (p.Tyr321Ter) SNV
Germline		 Chr13:48367517 Pathogenic Retinoblastoma Criteria Provided
Multiple Submitters
No Conflicts
 CA388160645 rs_377235036

2 SubmittersRCV002002434
NM_000321.3(RB1):c.1494T>G (p.Tyr498Ter) SNV
Germline		 Chr13:48380237 Pathogenic Retinoblastoma Criteria Provided
Single Submitter
 CA388162917 rs_768929728

1 SubmittersRCV002002437
NM_000321.3(RB1):c.1695+2T>G SNV
Germline		 Chr13:48381445 Pathogenic Retinoblastoma
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA388164075 rs_2138145859

2 SubmittersRCV002002440RCV003325592
NM_000321.3(RB1):c.2211+1G>A SNV
Germline		 Chr13:48463836 Pathogenic Retinoblastoma
Hereditary cancer-predisposing syndrome
Sarcoma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA388167240 rs_1949420231

4 SubmittersRCV002037927RCV004656781RCV005924368
NM_000321.3(RB1):c.476T>G (p.Phe159Cys) SNV
Germline		 Chr13:48345175 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA388252808 rs_2138087738

2 SubmittersRCV001954350RCV004044474
NM_000321.3(RB1):c.137G>C (p.Arg46Thr) SNV
Germline		 Chr13:48304049 Conflicting classifications of pathogenicity Retinoblastoma Criteria Provided
Conflicting Classifications
 CA388250405 rs_2138028088

2 SubmittersRCV002013754
NM_000321.3(RB1):c.215A>G (p.Glu72Gly) SNV
Germline		 Chr13:48307357 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA034326 rs_753307498

2 SubmittersRCV002013928RCV002425412
NM_000321.3(RB1):c.2774A>G (p.Lys925Arg) SNV
Germline		 Chr13:48480058 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome
Condition: not provided
Malignant tumor of urinary bladder		 Criteria Provided
Conflicting Classifications
 CA037427 rs_750946437

4 SubmittersRCV002034922RCV003163999RCV004774473RCV004571125
NM_000321.3(RB1):c.947A>G (p.Asn316Ser) SNV
Germline		 Chr13:48367501 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA388160594 rs_2138120959

3 SubmittersRCV001899006RCV002370492
NM_000321.3(RB1):c.607+1G>C SNV
Germline		 Chr13:48349024 Pathogenic Retinoblastoma
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA388157021 rs_587776789

3 SubmittersRCV001959117RCV002352655
NM_000321.3(RB1):c.1128-1G>A SNV
Germline/somatic		 Chr13:48373404 Pathogenic Retinoblastoma
Condition: not provided
Neoplasm
Hereditary retinoblastoma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA388161425 rs_2138130852

4 SubmittersRCV002044891RCV002466706RCV004671457RCV006555102
NM_000321.3(RB1):c.2705C>A (p.Ala902Glu) SNV
Germline		 Chr13:48477396 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA037124 rs_781740936

2 SubmittersRCV001930960RCV004043624
NM_000321.3(RB1):c.2750A>G (p.Asn917Ser) SNV
Germline		 Chr13:48480034 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA388158411 rs_1475201975

2 SubmittersRCV001962427RCV003303450
NM_000321.3(RB1):c.861+6T>C SNV
Germline		 Chr13:48362963 Conflicting classifications of pathogenicity Retinoblastoma Criteria Provided
Conflicting Classifications
 CA249274446 rs_373380507

2 SubmittersRCV001965924
NM_000321.3(RB1):c.500+2T>C SNV
Germline		 Chr13:48345201 Pathogenic Retinoblastoma Criteria Provided
Single Submitter
 CA388252870 rs_2138087877

1 SubmittersRCV002005116
NM_000321.3(RB1):c.2106+1G>C SNV
Germline		 Chr13:48459834 Pathogenic Retinoblastoma Criteria Provided
Single Submitter
 CA388166984 rs_1949385207

1 SubmittersRCV002011891
NM_000321.3(RB1):c.1519G>C (p.Asp507His) SNV
Germline		 Chr13:48381267 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome
Ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA388163333 rs_2138144909

5 SubmittersRCV002027081RCV002256892RCV003154233
NM_000321.3(RB1):c.436A>C (p.Asn146His) SNV
Germline		 Chr13:48345135 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA388252717 rs_1266294051

3 SubmittersRCV002027161RCV002331637
NM_000321.3(RB1):c.452T>A (p.Leu151Gln) SNV
Germline		 Chr13:48345151 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome
Malignant tumor of urinary bladder		 Criteria Provided
Conflicting Classifications
 CA388252753 rs_2138087581

4 SubmittersRCV002215491RCV002337243RCV004572034
NM_000321.3(RB1):c.2107-13A>C SNV
Germline		 Chr13:48463718 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA034202 rs_773509289

4 SubmittersRCV002091475RCV002259161
NM_000321.3(RB1):c.2714-12T>A SNV
Germline		 Chr13:48479986 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA037192 rs_759312873

2 SubmittersRCV002103556RCV002258379
NM_000321.3(RB1):c.1696-14C>T SNV
Germline		 Chr13:48452979 Conflicting classifications of pathogenicity Condition: not provided
Retinoblastoma		 Criteria Provided
Conflicting Classifications
 CA032271 rs_776912915

3 SubmittersRCV002226075RCV003093889
NM_000321.3(RB1):c.2490-1470G>A SNV
Germline		 Chr13:48471890 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Retinoblastoma		 Criteria Provided
Conflicting Classifications
 CA249311708 rs_183939957

2 SubmittersRCV002255898RCV003094216
NM_000321.3(RB1):c.607+5G>A SNV
Germline		 Chr13:48349028 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Retinoblastoma		 Criteria Provided
Conflicting Classifications
 CA2573149561 rs_2138093817

3 SubmittersRCV002255900RCV003626697
NM_000321.3(RB1):c.2279T>C (p.Phe760Ser) SNV
Germline		 Chr13:48465065 Likely pathogenic Retinoblastoma Criteria Provided
Single Submitter
 CA388167630 rs_1949430890

1 SubmittersRCV002272620
NM_000321.3(RB1):c.2663+1G>A SNV
Germline		 Chr13:48476844 Pathogenic Retinoblastoma
Sarcoma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA388157676 rs_2138359672

3 SubmittersRCV002272670RCV005930199
NM_000321.3(RB1):c.619C>T (p.Gln207Ter) SNV
Germline		 Chr13:48360028 Pathogenic Retinoblastoma Criteria Provided
Multiple Submitters
No Conflicts
 CA388158121 rs_2138107604

2 SubmittersRCV002272784
NM_000321.3(RB1):c.160G>T (p.Glu54Ter) SNV
Germline		 Chr13:48307302 Pathogenic Retinoblastoma Criteria Provided
Multiple Submitters
No Conflicts
 CA388250471 rs_2138033935

2 SubmittersRCV002287299
NM_000321.3(RB1):c.1318G>T (p.Glu440Ter) SNV
Germline		 Chr13:48377020 Pathogenic Retinoblastoma Criteria Provided
Multiple Submitters
No Conflicts
 rs_1060503078

2 SubmittersRCV004557049
NM_000321.3(RB1):c.381-4G>T SNV
Germline		 Chr13:48345076 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Retinoblastoma		 Criteria Provided
Conflicting Classifications
 CA2575413292 rs_2138087127

2 SubmittersRCV002355273RCV003626715
NM_000321.3(RB1):c.533G>A (p.Ser178Asn) SNV
Germline		 Chr13:48347857 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Retinoblastoma		 Criteria Provided
Conflicting Classifications
 CA388156848 rs_2138091710

2 SubmittersRCV002346884RCV003102722
NM_000321.3(RB1):c.55G>T (p.Glu19Ter) SNV
Germline		 Chr13:48303967 Pathogenic Hereditary cancer-predisposing syndrome
Retinoblastoma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA388250235 rs_2138027419

2 SubmittersRCV002344894RCV004556852
NM_000321.3(RB1):c.925A>G (p.Asn309Asp) SNV
Germline		 Chr13:48364957 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Retinoblastoma		 Criteria Provided
Conflicting Classifications
 CA388160055 rs_1328571912

2 SubmittersRCV002371407RCV003514571
NM_000321.3(RB1):c.916G>A (p.Val306Ile) SNV
Germline		 Chr13:48364948 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Retinoblastoma		 Criteria Provided
Conflicting Classifications
 CA039806 rs_773169052

4 SubmittersRCV002378863RCV004007280
NM_000321.3(RB1):c.1362C>G (p.Tyr454Ter) SNV
Germline		 Chr13:48379623 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Retinoblastoma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA388162594 rs_2138140935

2 SubmittersRCV002383517RCV003138241
NM_000321.3(RB1):c.1403T>G (p.Leu468Ter) SNV
Germline		 Chr13:48380066 Pathogenic Hereditary cancer-predisposing syndrome
Retinoblastoma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA388162699 rs_2138142263

2 SubmittersRCV002389341RCV004556856
NM_000321.3(RB1):c.1814+1G>A SNV
Germline		 Chr13:48453112 Pathogenic Hereditary cancer-predisposing syndrome
Malignant tumor of urinary bladder
Retinoblastoma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA388165674 rs_2138327439

3 SubmittersRCV002410229RCV005931921RCV006471024
NM_000321.3(RB1):c.1818T>G (p.Tyr606Ter) SNV
Germline		 Chr13:48456207 Pathogenic Hereditary cancer-predisposing syndrome
Retinoblastoma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA388165695 rs_137853297

2 SubmittersRCV002410304RCV004556859
NM_000321.3(RB1):c.1389+1G>A SNV
Germline		 Chr13:48379651 Pathogenic Hereditary cancer-predisposing syndrome
Retinoblastoma
Sarcoma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA388162656 rs_1060503087

3 SubmittersRCV002396599RCV004556855RCV005931898
NM_000321.3(RB1):c.1050-5T>C SNV
Germline		 Chr13:48368522 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA2580087574 rs_2542189673

2 SubmittersRCV003626764RCV002401280
NM_000321.3(RB1):c.17C>T (p.Pro6Leu) SNV
Germline		 Chr13:48303929 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Retinoblastoma
Malignant tumor of urinary bladder		 Criteria Provided
Conflicting Classifications
 CA032568 rs_755482658

3 SubmittersRCV002407875RCV003626773RCV004572441
NM_000321.3(RB1):c.1030C>T (p.Gln344Ter) SNV
Germline		 Chr13:48367584 Pathogenic Hereditary cancer-predisposing syndrome
Retinoblastoma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA388160889 rs_2138121441

2 SubmittersRCV002383678RCV004556853
NM_000321.3(RB1):c.137G>A (p.Arg46Lys) SNV
Germline		 Chr13:48304049 Pathogenic Hereditary cancer-predisposing syndrome
Retinoblastoma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA388250404 rs_2138028088

2 SubmittersRCV002381134RCV004556854
NM_000321.3(RB1):c.2502A>G (p.Ser834=) SNV
Germline		 Chr13:48473372 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Retinoblastoma		 Criteria Provided
Conflicting Classifications
 CA483559317 rs_1949484214

3 SubmittersRCV002431111RCV003101898
NM_000321.3(RB1):c.1961-4A>G SNV
Germline		 Chr13:48459684 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Retinoblastoma		 Criteria Provided
Conflicting Classifications
 CA955785493 rs_1949383242

2 SubmittersRCV002421744RCV003097392
NM_000321.3(RB1):c.2042G>A (p.Trp681Ter) SNV
Germline		 Chr13:48459769 Pathogenic Hereditary cancer-predisposing syndrome
Retinoblastoma
Hereditary retinoblastoma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA388166827 rs_2138336207

3 SubmittersRCV002419958RCV003101027RCV006555110
NM_000321.3(RB1):c.2489G>A (p.Arg830Lys) SNV
Germline		 Chr13:48465368 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Retinoblastoma		 Criteria Provided
Conflicting Classifications
 CA388168090 rs_2138346300

3 SubmittersRCV002430898RCV003514584
NM_000321.3(RB1):c.245C>T (p.Ser82Leu) SNV
Germline		 Chr13:48307387 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Retinoblastoma		 Criteria Provided
Conflicting Classifications
 CA035609 rs_755704180

2 SubmittersRCV002430728RCV003101843
NM_000321.3(RB1):c.2569C>T (p.Arg857Cys) SNV
Germline		 Chr13:48476749 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Retinoblastoma		 Criteria Provided
Conflicting Classifications
 CA249287897 rs_1032510984

3 SubmittersRCV002452742RCV002473385RCV003514585
NM_000321.3(RB1):c.2093G>C (p.Arg698Thr) SNV
Germline		 Chr13:48459820 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Retinoblastoma		 Criteria Provided
Conflicting Classifications
 CA388166949 rs_2138336481

3 SubmittersRCV002424072RCV003098609
NM_000321.3(RB1):c.240A>T (p.Lys80Asn) SNV
Germline		 Chr13:48307382 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Retinoblastoma		 Criteria Provided
Conflicting Classifications
 CA035513 rs_780829988

3 SubmittersRCV002459712RCV003126253RCV003775231
NM_000321.3(RB1):c.796C>T (p.Gln266Ter) SNV
Germline		 Chr13:48362892 Pathogenic Hereditary retinoblastoma
Retinoblastoma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA388159468 rs_2138112509

2 SubmittersRCV002466773RCV003514591
NM_000321.3(RB1):c.644C>G (p.Ser215Ter) SNV
Germline		 Chr13:48360053 Pathogenic Retinoblastoma Criteria Provided
Single Submitter
 CA388158245 rs_768305224

1 SubmittersRCV003062581
NM_000321.3(RB1):c.861+1G>A SNV
Germline		 Chr13:48362958 Pathogenic Retinoblastoma Criteria Provided
Multiple Submitters
No Conflicts
 CA388159729 rs_2138112893

2 SubmittersRCV003062582
NM_000321.3(RB1):c.1190C>A (p.Ser397Ter) SNV
Germline		 Chr13:48373467 Pathogenic Retinoblastoma Criteria Provided
Single Submitter
 CA388161609 rs_2138131253

1 SubmittersRCV003062584
NM_000321.3(RB1):c.1355T>A (p.Leu452Ter) SNV
Germline		 Chr13:48379616 Pathogenic Retinoblastoma Criteria Provided
Single Submitter
 CA388162574 rs_2138140900

1 SubmittersRCV003058414
NM_000321.3(RB1):c.1498+4A>T SNV
Germline		 Chr13:48380245 Conflicting classifications of pathogenicity Retinoblastoma Criteria Provided
Conflicting Classifications
 CA2580087600 rs_2138143230

2 SubmittersRCV003062585
NM_000321.3(RB1):c.1568T>G (p.Leu523Ter) SNV
Germline		 Chr13:48381316 Pathogenic Retinoblastoma Criteria Provided
Multiple Submitters
No Conflicts
 CA388163553 rs_2138145156

2 SubmittersRCV003058415
NM_000321.3(RB1):c.1587C>A (p.Tyr529Ter) SNV
Germline		 Chr13:48381335 Pathogenic Retinoblastoma
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA388163642 rs_1948534023

3 SubmittersRCV003062586RCV004070143
NM_000321.3(RB1):c.1695+1G>T SNV
Germline		 Chr13:48381444 Pathogenic Retinoblastoma Criteria Provided
Single Submitter
 CA388164072 rs_587778857

1 SubmittersRCV003041190
NM_000321.3(RB1):c.442A>G (p.Met148Val) SNV
Germline		 Chr13:48345141 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA038167 rs_748717860

3 SubmittersRCV002603226RCV004068936
NM_000321.3(RB1):c.539+1G>C SNV
Germline		 Chr13:48347864 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA388156867 rs_1566187856

2 SubmittersRCV002620192RCV005264371
NM_000321.3(RB1):c.2234A>G (p.Lys745Arg) SNV
Germline		 Chr13:48465020 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA388167527 rs_2138344612

2 SubmittersRCV002608616RCV004656942
NM_000321.3(RB1):c.1499-1G>T SNV
Germline		 Chr13:48381246 Pathogenic Retinoblastoma Criteria Provided
Single Submitter
 CA388163255 rs_1485450031

1 SubmittersRCV002818981
NM_000321.3(RB1):c.1423A>T (p.Lys475Ter) SNV
Germline		 Chr13:48380166 Pathogenic Retinoblastoma
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA388162757 rs_2542204515

2 SubmittersRCV002811691RCV004948795
NM_000321.3(RB1):c.259G>A (p.Val87Ile) SNV
Germline		 Chr13:48307401 Conflicting classifications of pathogenicity Retinoblastoma
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA036273 rs_543611480

3 SubmittersRCV002886337RCV004774755RCV004673732
NM_000321.3(RB1):c.163C>A (p.Pro55Thr) SNV
Germline		 Chr13:48307305 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA029236 rs_769618862

3 SubmittersRCV002975733RCV004068282
NM_000321.3(RB1):c.1943C>G (p.Ser648Ter) SNV
Germline		 Chr13:48456332 Pathogenic Retinoblastoma Criteria Provided
Single Submitter
 CA388166238 rs_2138331596

1 SubmittersRCV003019803
NM_000321.3(RB1):c.142G>T (p.Glu48Ter) SNV
Germline/somatic		 Chr13:48307284 Pathogenic Retinoblastoma
Neoplasm		 Criteria Provided
Single Submitter
 CA388250428 rs_2138033820

2 SubmittersRCV003027945RCV004673777
NM_000321.3(RB1):c.2016G>C (p.Glu672Asp) SNV
Germline		 Chr13:48459743 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA388166768 rs_1555294098

2 SubmittersRCV004009548RCV004137165
NM_000321.3(RB1):c.501-2A>G SNV
Germline		 Chr13:48347823 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Retinoblastoma		 Criteria Provided
Conflicting Classifications
 CA388156770 rs_2138091518

3 SubmittersRCV003123180RCV003294636RCV003626809
NM_000321.3(RB1):c.2043G>A (p.Trp681Ter) SNV
Germline		 Chr13:48459770 Pathogenic Condition: not provided
Retinoblastoma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA388166830 rs_2138336213

2 SubmittersRCV003154518RCV004556864
NM_000321.3(RB1):c.1274T>C (p.Ile425Thr) SNV
Germline		 Chr13:48376976 Conflicting classifications of pathogenicity Ovarian cancer
Retinoblastoma
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA388162064 rs_1464633359

3 SubmittersRCV003154718RCV003626813RCV004661626
NM_000321.3(RB1):c.1330C>T (p.Gln444Ter) SNV
Germline		 Chr13:48377032 Pathogenic Condition: not provided
Retinoblastoma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA388162188 rs_2138136807

3 SubmittersRCV003323149RCV004556870
NM_000321.3(RB1):c.2325+2T>G SNV
Germline		 Chr13:48465113 Likely pathogenic Retinoblastoma Criteria Provided
Single Submitter
 CA388167742 rs_2138345077

1 SubmittersRCV003337752
NM_000321.3(RB1):c.539+4A>G SNV
Germline		 Chr13:48347867 Conflicting classifications of pathogenicity Malignant tumor of urinary bladder
Retinoblastoma		 Criteria Provided
Conflicting Classifications
 CA2695199741 rs_2138091767

2 SubmittersRCV003471813RCV003626873
NM_000321.3(RB1):c.218G>C (p.Arg73Thr) SNV
Germline		 Chr13:48307360 Conflicting classifications of pathogenicity Malignant tumor of urinary bladder
Hereditary cancer-predisposing syndrome
Retinoblastoma		 Criteria Provided
Conflicting Classifications
 CA034382 rs_758881668

4 SubmittersRCV003463481RCV005264419RCV004808489
NM_000321.3(RB1):c.1700C>G (p.Ser567Ter) SNV
Germline		 Chr13:48452997 Pathogenic Retinoblastoma Criteria Provided
Single Submitter
 CA388165432 rs_137853292

1 SubmittersRCV003515319
NM_000321.3(RB1):c.1498+4A>G SNV
Germline		 Chr13:48380245 Conflicting classifications of pathogenicity Retinoblastoma
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2697551852 rs_2138143230

2 SubmittersRCV003515399RCV004780569
NM_000321.3(RB1):c.689C>G (p.Ser230Ter) SNV
Germline		 Chr13:48360098 Pathogenic Retinoblastoma Criteria Provided
Single Submitter
 CA388158511 rs_1459523811

1 SubmittersRCV003516227
NM_000321.3(RB1):c.245C>G (p.Ser82Ter) SNV
Germline		 Chr13:48307387 Pathogenic Retinoblastoma Criteria Provided
Multiple Submitters
No Conflicts
 CA388250662 rs_755704180

2 SubmittersRCV003516364
NM_000321.3(RB1):c.137+2T>G SNV
Germline		 Chr13:48304051 Pathogenic Retinoblastoma Criteria Provided
Single Submitter
 CA388250411 rs_2138028105

1 SubmittersRCV003516342
NM_000321.3(RB1):c.138-2A>G SNV
Germline		 Chr13:48307278 Pathogenic Retinoblastoma Criteria Provided
Multiple Submitters
No Conflicts
 CA388250414 rs_2138033781

2 SubmittersRCV003516343
NM_000321.3(RB1):c.179T>G (p.Leu60Ter) SNV
Germline		 Chr13:48307321 Pathogenic Retinoblastoma Criteria Provided
Multiple Submitters
No Conflicts
 CA388250512 rs_2542100048

2 SubmittersRCV003516344
NM_000321.3(RB1):c.264+1G>C SNV
Germline		 Chr13:48307407 Pathogenic Retinoblastoma Criteria Provided
Single Submitter
 CA388250702 rs_1131690907

1 SubmittersRCV003516346
NM_000321.3(RB1):c.540-1G>A SNV
Germline		 Chr13:48348955 Pathogenic Retinoblastoma Criteria Provided
Multiple Submitters
No Conflicts
 CA388156875 rs_2542165690

2 SubmittersRCV003516347
NM_000321.3(RB1):c.1215+5G>A SNV
Germline		 Chr13:48373497 Likely pathogenic Retinoblastoma
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2622980714 rs_2138131373

3 SubmittersRCV003516351RCV005725059
NM_000321.3(RB1):c.1339A>T (p.Lys447Ter) SNV
Germline		 Chr13:48379600 Pathogenic Retinoblastoma Criteria Provided
Single Submitter
 CA388162544 rs_2138140795

1 SubmittersRCV003516352
NM_000321.3(RB1):c.1346G>A (p.Gly449Glu) SNV
Germline		 Chr13:48379607 Pathogenic Retinoblastoma Criteria Provided
Single Submitter
 CA388162559 rs_587778847

1 SubmittersRCV003516353
NM_000321.3(RB1):c.1695+5G>A SNV
Germline		 Chr13:48381448 Likely pathogenic Retinoblastoma Criteria Provided
Single Submitter
 CA2695218512 rs_2138145870

1 SubmittersRCV003516354
NM_000321.3(RB1):c.1961-2A>G SNV
Germline		 Chr13:48459686 Pathogenic Retinoblastoma Criteria Provided
Multiple Submitters
No Conflicts
 CA388166668 rs_587778867

2 SubmittersRCV003516355
NM_000321.3(RB1):c.2117G>A (p.Cys706Tyr) SNV
Germline		 Chr13:48463741 Pathogenic/Likely pathogenic Retinoblastoma Criteria Provided
Multiple Submitters
No Conflicts
 CA388167022 rs_121913295

2 SubmittersRCV003516356
NM_000321.3(RB1):c.2325+5G>C SNV
Germline		 Chr13:48465116 Likely pathogenic Retinoblastoma Criteria Provided
Single Submitter
 CA2695218639 rs_886042249

1 SubmittersRCV003516357
NM_000321.3(RB1):c.2326-1G>A SNV
Germline		 Chr13:48465204 Pathogenic Retinoblastoma Criteria Provided
Multiple Submitters
No Conflicts
 CA388167746 rs_2542375627

2 SubmittersRCV003516358
NM_000321.3(RB1):c.2447C>G (p.Ser816Ter) SNV
Germline		 Chr13:48465326 Pathogenic Retinoblastoma Criteria Provided
Single Submitter
 CA388168006 rs_1593539493

1 SubmittersRCV003516359
NM_000321.3(RB1):c.2432G>C (p.Ser811Thr) SNV
Germline		 Chr13:48465311 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA388167969 rs_1220980701

2 SubmittersRCV003515243RCV006292410
NM_000321.3(RB1):c.380+2T>G SNV
Germline		 Chr13:48342716 Pathogenic Retinoblastoma Criteria Provided
Single Submitter
 CA388252581 rs_2542156330

1 SubmittersRCV003514927
NM_000321.3(RB1):c.1389+2T>A SNV
Germline		 Chr13:48379652 Pathogenic Retinoblastoma Criteria Provided
Single Submitter
 CA388162658 rs_2542203051

1 SubmittersRCV003514979
NM_000321.3(RB1):c.2401G>T (p.Gly801Ter) SNV
Germline		 Chr13:48465280 Pathogenic Retinoblastoma Criteria Provided
Single Submitter
 CA388167901 rs_2138345814

1 SubmittersRCV003514982
NM_000321.3(RB1):c.1960+2T>A SNV
Germline		 Chr13:48456351 Pathogenic Retinoblastoma Criteria Provided
Single Submitter
 CA388166322 rs_587776780

1 SubmittersRCV003515931
NM_000321.3(RB1):c.1128-2A>T SNV
Germline		 Chr13:48373403 Pathogenic Retinoblastoma Criteria Provided
Single Submitter
 CA388161422 rs_1131690892

1 SubmittersRCV003626929
NM_000321.3(RB1):c.2212-14C>G SNV
Germline		 Chr13:48464984 Pathogenic/Likely pathogenic Retinoblastoma
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA955793850 rs_80122842

2 SubmittersRCV003627703RCV006272521
NM_000321.3(RB1):c.862-2A>G SNV
Germline		 Chr13:48364892 Pathogenic Retinoblastoma Criteria Provided
Multiple Submitters
No Conflicts
 CA388159816 rs_1131690914

2 SubmittersRCV003627786
NM_000321.3(RB1):c.1215+2T>A SNV
Germline		 Chr13:48373494 Pathogenic Retinoblastoma Criteria Provided
Single Submitter
 CA388161721 rs_1060503074

1 SubmittersRCV003628048
NM_000321.3(RB1):c.1389+4A>T SNV
Germline		 Chr13:48379654 Likely pathogenic Retinoblastoma Criteria Provided
Single Submitter
 CA2739277606 rs_1131690879

1 SubmittersRCV003628415
NM_000321.3(RB1):c.2490-1G>C SNV
Germline		 Chr13:48473359 Likely pathogenic Retinoblastoma Criteria Provided
Single Submitter
 CA388168100 rs_587778838

1 SubmittersRCV003626103
NM_000321.3(RB1):c.2084T>A (p.Met695Lys) SNV
Germline		 Chr13:48459811 Likely pathogenic Retinoblastoma Criteria Provided
Single Submitter
 CA388166927 rs_727504122

1 SubmittersRCV003626154
NM_000321.3(RB1):c.1982G>C (p.Arg661Pro) SNV
Germline		 Chr13:48459709 Conflicting classifications of pathogenicity Retinoblastoma Criteria Provided
Conflicting Classifications
 CA033625 rs_750578651

2 SubmittersRCV003626192
NM_000321.3(RB1):c.381-12T>C SNV
Germline		 Chr13:48345068 Conflicting classifications of pathogenicity Retinoblastoma
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA037942 rs_746722035

2 SubmittersRCV003627459RCV004775488
NM_000321.3(RB1):c.-15C>T SNV
Germline		 Chr13:48303898 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary retinoblastoma		 Criteria Provided
Conflicting Classifications
 CA955794794 rs_780264811

3 SubmittersRCV003817369RCV006555124
NM_000321.3(RB1):c.2325G>T (p.Arg775Ser) SNV
Germline		 Chr13:48465111 Likely pathogenic Retinoblastoma Criteria Provided
Single Submitter
 CA388167736 rs_2138345066

1 SubmittersRCV003859946
NC_000013.11:g.48303678G>A SNV
Germline		 Chr13:48303678 Conflicting classifications of pathogenicity Retinoblastoma
RB1-related disorder
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA249841988 rs_576931877

4 SubmittersRCV003869540RCV004750948RCV004801420
NM_000321.3(RB1):c.1039T>C (p.Ser347Pro) SNV
Germline		 Chr13:48367593 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA388160933 rs_2542188690

2 SubmittersRCV004013333RCV005264545
NM_000321.3(RB1):c.1363C>A (p.Arg455=) SNV
Germline		 Chr13:48379624 Conflicting classifications of pathogenicity Retinoblastoma
Melanoma		 Criteria Provided
Conflicting Classifications
 CA483559225 rs_121913302

3 SubmittersRCV004017162RCV005937409
NM_000321.3(RB1):c.814A>T (p.Arg272Ter) SNV
Germline		 Chr13:48362910 Pathogenic Retinoblastoma Criteria Provided
Single Submitter
 rs_1555284945

1 SubmittersRCV004557005
NM_000321.3(RB1):c.769C>T (p.Gln257Ter) SNV
Germline		 Chr13:48362865 Pathogenic Retinoblastoma Criteria Provided
Single Submitter
 rs_2138112357

1 SubmittersRCV004557009
NM_000321.3(RB1):c.876T>A (p.Tyr292Ter) SNV
Germline		 Chr13:48364908 Pathogenic Retinoblastoma Criteria Provided
Single Submitter
 rs_2138116341

1 SubmittersRCV004557012
NM_000321.3(RB1):c.940-2A>C SNV
Germline		 Chr13:48367492 Pathogenic Retinoblastoma Criteria Provided
Single Submitter
 rs_2138120917

1 SubmittersRCV004557018
NM_000321.3(RB1):c.963C>A (p.Tyr321Ter) SNV
Germline		 Chr13:48367517 Pathogenic Retinoblastoma Criteria Provided
Single Submitter
 rs_377235036

1 SubmittersRCV004557022
NM_000321.3(RB1):c.1050-1G>A SNV
Germline		 Chr13:48368526 Pathogenic Retinoblastoma Criteria Provided
Single Submitter
 rs_2542189694

1 SubmittersRCV004557024
NM_000321.3(RB1):c.1050-1G>C SNV
Germline/somatic		 Chr13:48368526 Pathogenic Retinoblastoma
Neoplasm		 Criteria Provided
Single Submitter
 rs_2542189694

2 SubmittersRCV004557025RCV004674019
NM_000321.3(RB1):c.1050-1G>T SNV
Germline		 Chr13:48368526 Pathogenic Retinoblastoma Criteria Provided
Single Submitter
 rs_2542189694

1 SubmittersRCV004557026
NM_000321.3(RB1):c.1050-2A>G SNV
Germline		 Chr13:48368525 Pathogenic/Likely pathogenic Retinoblastoma
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2138123114

3 SubmittersRCV004557028RCV004701913RCV006292537
NM_000321.3(RB1):c.1190C>G (p.Ser397Ter) SNV
Germline		 Chr13:48373467 Pathogenic Retinoblastoma Criteria Provided
Single Submitter
 rs_2138131253

1 SubmittersRCV004557038
NM_000321.3(RB1):c.1216-3A>G SNV
Germline		 Chr13:48376915 Pathogenic Retinoblastoma
Malignant tumor of urinary bladder		 Criteria Provided
Single Submitter
 rs_2138136154

2 SubmittersRCV004557040RCV005939470
NM_000321.3(RB1):c.1221C>A (p.Cys407Ter) SNV
Germline		 Chr13:48376923 Pathogenic Retinoblastoma Criteria Provided
Single Submitter
 rs_756329704

1 SubmittersRCV004557042
NM_000321.3(RB1):c.1272C>A (p.Tyr424Ter) SNV
Germline		 Chr13:48376974 Pathogenic Retinoblastoma Criteria Provided
Single Submitter
 rs_2138136448

1 SubmittersRCV004557043
NM_000321.3(RB1):c.1306C>T (p.Gln436Ter) SNV
Germline		 Chr13:48377008 Pathogenic Retinoblastoma Criteria Provided
Multiple Submitters
No Conflicts
 rs_4151534

2 SubmittersRCV004557046
NM_000321.3(RB1):c.1331A>T (p.Gln444Leu) SNV
Germline		 Chr13:48377033 Likely pathogenic Retinoblastoma
Gastric cancer		 Criteria Provided
Single Submitter
 rs_2138136810

2 SubmittersRCV004557050RCV005939471
NM_000321.3(RB1):c.1332+1G>C SNV
Germline		 Chr13:48377035 Pathogenic Retinoblastoma Criteria Provided
Single Submitter
 rs_587778846

1 SubmittersRCV004557051
NM_000321.3(RB1):c.1332+2T>G SNV
Germline		 Chr13:48377036 Pathogenic Retinoblastoma Criteria Provided
Single Submitter
 rs_2138136840

1 SubmittersRCV004557052
NM_000321.3(RB1):c.1389+2T>C SNV
Germline		 Chr13:48379652 Pathogenic Retinoblastoma Criteria Provided
Single Submitter
 rs_2542203051

1 SubmittersRCV004557055
NM_000321.3(RB1):c.1389+4A>G SNV
Germline		 Chr13:48379654 Likely pathogenic Retinoblastoma Criteria Provided
Single Submitter
 rs_1131690879

1 SubmittersRCV004557056
NM_000321.3(RB1):c.-197G>C SNV
Germline		 Chr13:48303716 Likely pathogenic Retinoblastoma Criteria Provided
Single Submitter
 rs_2542091863

1 SubmittersRCV004557057
NM_000321.3(RB1):c.1393G>T (p.Glu465Ter) SNV
Germline		 Chr13:48380056 Pathogenic Retinoblastoma Criteria Provided
Single Submitter
 rs_2138142183

1 SubmittersRCV004557059
NM_000321.3(RB1):c.1421+2T>G SNV
Germline		 Chr13:48380086 Pathogenic Retinoblastoma Criteria Provided
Single Submitter
 rs_2542204239

1 SubmittersRCV004557061
NM_000321.3(RB1):c.1422-2A>C SNV
Germline		 Chr13:48380163 Pathogenic Retinoblastoma Criteria Provided
Single Submitter
 rs_1395304450

1 SubmittersRCV004557062
NM_000321.3(RB1):c.1448A>G (p.His483Arg) SNV
Germline		 Chr13:48380191 Likely pathogenic Retinoblastoma Criteria Provided
Single Submitter
 rs_1948522736

1 SubmittersRCV004557068
NM_000321.3(RB1):c.1498+1G>T SNV
Germline		 Chr13:48380242 Pathogenic Retinoblastoma Criteria Provided
Single Submitter
 rs_1131690909

1 SubmittersRCV004557076
NM_000321.3(RB1):c.1499-1G>A SNV
Germline		 Chr13:48381246 Pathogenic Retinoblastoma Criteria Provided
Single Submitter
 rs_1485450031

1 SubmittersRCV004557078
NM_000321.3(RB1):c.1548G>A (p.Trp516Ter) SNV
Germline		 Chr13:48381296 Pathogenic Retinoblastoma Criteria Provided
Multiple Submitters
No Conflicts
 rs_2138145061

3 SubmittersRCV004557086
NM_000321.3(RB1):c.1695+1G>C SNV
Germline		 Chr13:48381444 Pathogenic Retinoblastoma Criteria Provided
Single Submitter
 rs_587778857

1 SubmittersRCV004557097
NM_000321.3(RB1):c.1695+2T>A SNV
Germline		 Chr13:48381445 Pathogenic Retinoblastoma Criteria Provided
Single Submitter
 rs_2138145859

1 SubmittersRCV004557098
NM_000321.3(RB1):c.88G>T (p.Glu30Ter) SNV
Germline		 Chr13:48304000 Pathogenic Retinoblastoma
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1555279228

2 SubmittersRCV004557099RCV006276495
NM_000321.3(RB1):c.1741G>T (p.Gly581Ter) SNV
Germline		 Chr13:48453038 Pathogenic Retinoblastoma Criteria Provided
Single Submitter
 rs_375645171

1 SubmittersRCV004557103
NM_000321.3(RB1):c.1843A>T (p.Lys615Ter) SNV
Germline		 Chr13:48456232 Pathogenic Retinoblastoma Criteria Provided
Single Submitter
 rs_2542363996

1 SubmittersRCV004557110
NM_000321.3(RB1):c.1954A>T (p.Lys652Ter) SNV
Germline		 Chr13:48456343 Pathogenic Retinoblastoma
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2138331657

2 SubmittersRCV004557118RCV006292538
NM_000321.3(RB1):c.-197G>A SNV
Germline		 Chr13:48303716 Likely pathogenic Retinoblastoma Criteria Provided
Multiple Submitters
No Conflicts
 rs_2542091863

2 SubmittersRCV004557119
NM_000321.3(RB1):c.137+1G>C SNV
Germline		 Chr13:48304050 Pathogenic Retinoblastoma Criteria Provided
Multiple Submitters
No Conflicts
 rs_1131690855

2 SubmittersRCV004557120
NM_000321.3(RB1):c.1960G>T (p.Val654Leu) SNV
Germline		 Chr13:48456349 Pathogenic/Likely pathogenic Retinoblastoma
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_483352690

3 SubmittersRCV004557123RCV005475541
NM_000321.3(RB1):c.1970T>C (p.Leu657Pro) SNV
Germline		 Chr13:48459697 Likely pathogenic Retinoblastoma Criteria Provided
Single Submitter
 rs_562956970

1 SubmittersRCV004557129
NM_000321.3(RB1):c.1985T>C (p.Leu662Pro) SNV
Germline		 Chr13:48459712 Likely pathogenic Retinoblastoma Criteria Provided
Single Submitter
 rs_2542368024

1 SubmittersRCV004557130
NM_000321.3(RB1):c.2071G>T (p.Glu691Ter) SNV
Germline		 Chr13:48459798 Pathogenic Retinoblastoma Criteria Provided
Single Submitter
 rs_1593534748

1 SubmittersRCV004557138
NM_000321.3(RB1):c.2104C>A (p.Gln702Lys) SNV
Germline		 Chr13:48459831 Likely pathogenic Retinoblastoma Criteria Provided
Single Submitter
 rs_1131690865

1 SubmittersRCV004557141
NM_000321.3(RB1):c.2137A>T (p.Lys713Ter) SNV
Germline		 Chr13:48463761 Pathogenic Retinoblastoma Criteria Provided
Single Submitter
 rs_2138342342

1 SubmittersRCV004557149
NM_000321.3(RB1):c.2184C>A (p.Tyr728Ter) SNV
Germline		 Chr13:48463808 Pathogenic Retinoblastoma Criteria Provided
Single Submitter
 rs_2138342583

1 SubmittersRCV004557152
NM_000321.3(RB1):c.2239G>T (p.Glu747Ter) SNV
Germline		 Chr13:48465025 Pathogenic Retinoblastoma Criteria Provided
Single Submitter
 rs_1593539163

1 SubmittersRCV004557158
NM_000321.3(RB1):c.2273C>A (p.Ser758Ter) SNV
Germline		 Chr13:48465059 Pathogenic Retinoblastoma Criteria Provided
Single Submitter
 rs_754814477

1 SubmittersRCV004557161
NM_000321.3(RB1):c.2339C>A (p.Ser780Ter) SNV
Germline		 Chr13:48465218 Pathogenic Retinoblastoma Criteria Provided
Single Submitter
 rs_1593539366

1 SubmittersRCV004557165
NM_000321.3(RB1):c.-197G>T SNV
Germline		 Chr13:48303716 Likely pathogenic Retinoblastoma Criteria Provided
Single Submitter
 rs_2542091863

1 SubmittersRCV004557175
NM_000321.3(RB1):c.2489+1G>T SNV
Germline		 Chr13:48465369 Pathogenic Retinoblastoma
Glioma susceptibility 1		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_764754259

3 SubmittersRCV004557178RCV005939472
NM_000321.3(RB1):c.2490-28T>C SNV
Germline		 Chr13:48473332 Likely pathogenic Retinoblastoma Criteria Provided
Multiple Submitters
No Conflicts
 rs_2138354487

2 SubmittersRCV004557180
NM_000321.3(RB1):c.2490-2A>G SNV
Germline		 Chr13:48473358 Pathogenic Retinoblastoma Criteria Provided
Single Submitter
 rs_2138354579

1 SubmittersRCV004557181
NM_000321.3(RB1):c.224G>A (p.Trp75Ter) SNV
Germline		 Chr13:48307366 Pathogenic Retinoblastoma Criteria Provided
Single Submitter
 rs_2138034351

1 SubmittersRCV004557183
NM_000321.3(RB1):c.2520+1G>C SNV
Germline		 Chr13:48473391 Pathogenic Retinoblastoma Criteria Provided
Single Submitter
 rs_587778850

1 SubmittersRCV004557184
NM_000321.3(RB1):c.235G>T (p.Glu79Ter) SNV
Germline		 Chr13:48307377 Pathogenic Retinoblastoma Criteria Provided
Single Submitter
 rs_1060503090

1 SubmittersRCV004557192
NM_000321.3(RB1):c.264G>A (p.Leu88=) SNV
Germline		 Chr13:48307406 Pathogenic Retinoblastoma Criteria Provided
Multiple Submitters
No Conflicts
 rs_1952090786

2 SubmittersRCV004557193
NM_000321.3(RB1):c.264+2T>C SNV
Germline		 Chr13:48307408 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2542100494

2 SubmittersRCV004557194RCV006292539
NM_000321.3(RB1):c.265G>T (p.Gly89Ter) SNV
Germline		 Chr13:48342599 Pathogenic Retinoblastoma Criteria Provided
Single Submitter
 rs_1952455387

1 SubmittersRCV004557195
NM_000321.3(RB1):c.341C>A (p.Ser114Ter) SNV
Germline		 Chr13:48342675 Pathogenic Retinoblastoma Criteria Provided
Single Submitter
 rs_139673557

1 SubmittersRCV004557203
NM_000321.3(RB1):c.465T>G (p.Tyr155Ter) SNV
Germline		 Chr13:48345164 Pathogenic Retinoblastoma Criteria Provided
Single Submitter
 rs_2138087664

1 SubmittersRCV004557207
NM_000321.3(RB1):c.501-1G>T SNV
Germline		 Chr13:48347824 Pathogenic Retinoblastoma Criteria Provided
Single Submitter
 rs_2542163576

1 SubmittersRCV004557210
NM_000321.3(RB1):c.521T>A (p.Leu174Ter) SNV
Germline		 Chr13:48347845 Pathogenic Retinoblastoma Criteria Provided
Single Submitter
 rs_2542163684

1 SubmittersRCV004557211
NM_000321.3(RB1):c.526C>T (p.Gln176Ter) SNV
Germline		 Chr13:48347850 Pathogenic Retinoblastoma Criteria Provided
Single Submitter
 rs_2138091656

1 SubmittersRCV004557212
NM_000321.3(RB1):c.540-1G>C SNV
Germline		 Chr13:48348955 Pathogenic Retinoblastoma
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2542165690

2 SubmittersRCV004557213RCV005475542
NM_000321.3(RB1):c.585G>A (p.Trp195Ter) SNV
Germline		 Chr13:48349001 Pathogenic Retinoblastoma Criteria Provided
Multiple Submitters
No Conflicts
 rs_2138093662

2 SubmittersRCV004557215
NM_000321.3(RB1):c.607+2T>G SNV
Germline		 Chr13:48349025 Pathogenic Retinoblastoma Criteria Provided
Multiple Submitters
No Conflicts
 rs_2138093789

3 SubmittersRCV004557218
NM_000321.3(RB1):c.608-1G>A SNV
Germline		 Chr13:48360016 Pathogenic Retinoblastoma Criteria Provided
Multiple Submitters
No Conflicts
 rs_2138107532

2 SubmittersRCV004557219
NM_000321.3(RB1):c.717T>G (p.Tyr239Ter) SNV
Germline		 Chr13:48360126 Pathogenic Retinoblastoma Criteria Provided
Single Submitter
 rs_776450325

1 SubmittersRCV004557223
NM_000321.3(RB1):c.719-9C>G SNV
Germline		 Chr13:48362806 Pathogenic Retinoblastoma
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2138112027

2 SubmittersRCV004557224RCV005402142
NM_000321.3(RB1):c.719-3C>G SNV
Germline		 Chr13:48362812 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2138112047

2 SubmittersRCV004557226RCV004943306
NM_000321.3(RB1):c.541A>T (p.Ile181Leu) SNV
Germline		 Chr13:48348957 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Retinoblastoma		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV004660672RCV005103400
NM_000321.3(RB1):c.306T>A (p.Cys102Ter) SNV
Germline		 Chr13:48342640 Pathogenic Hereditary cancer-predisposing syndrome
Retinoblastoma		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004660690RCV005103402
NM_000321.3(RB1):c.1042A>G (p.Ile348Val) SNV
Germline		 Chr13:48367596 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Retinoblastoma		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV004660698RCV006474394
NM_000321.3(RB1):c.1421+2T>A SNV
Germline		 Chr13:48380086 Pathogenic Retinoblastoma Criteria Provided
Single Submitter

1 SubmittersRCV004785971
NM_000321.3(RB1):c.217A>T (p.Arg73Ter) SNV
Germline		 Chr13:48307359 Pathogenic Retinoblastoma Criteria Provided
Single Submitter

1 SubmittersRCV004785972
NM_000321.3(RB1):c.501-15T>G SNV
Germline		 Chr13:48347810 Conflicting classifications of pathogenicity Retinoblastoma Criteria Provided
Conflicting Classifications

2 SubmittersRCV004807815
NC_000013.11:g.48303701G>A SNV
Germline		 Chr13:48303701 Conflicting classifications of pathogenicity Retinoblastoma Criteria Provided
Conflicting Classifications

2 SubmittersRCV005110668
NM_000321.3(RB1):c.1759G>T (p.Glu587Ter) SNV
Germline		 Chr13:48453056 Pathogenic Retinoblastoma Criteria Provided
Single Submitter

1 SubmittersRCV005109846
NM_000321.3(RB1):c.1694C>G (p.Ser565Ter) SNV
Germline		 Chr13:48381442 Pathogenic Retinoblastoma Criteria Provided
Single Submitter

1 SubmittersRCV005133157
NM_000321.3(RB1):c.1049+2T>C SNV
Germline		 Chr13:48367605 Pathogenic Retinoblastoma Criteria Provided
Single Submitter

1 SubmittersRCV005140720
NM_000321.3(RB1):c.2663G>C (p.Ser888Thr) SNV
Germline		 Chr13:48476843 Likely pathogenic Retinoblastoma Criteria Provided
Single Submitter

1 SubmittersRCV005143640
NM_000321.3(RB1):c.1966C>A (p.Arg656=) SNV
Germline		 Chr13:48459693 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV005180126RCV006292620
NM_000321.3(RB1):c.1421+1G>A SNV
Germline		 Chr13:48380085 Pathogenic Retinoblastoma
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005179740RCV005435520
NC_000013.11:g.48303717A>G SNV
Germline		 Chr13:48303717 Pathogenic Retinoblastoma Criteria Provided
Single Submitter

1 SubmittersRCV005192455
NM_000321.3(RB1):c.1891C>A (p.Gln631Lys) SNV
Germline		 Chr13:48456280 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV005193943RCV005709675
NM_000321.3(RB1):c.381-1G>C SNV
Germline		 Chr13:48345079 Pathogenic Retinoblastoma Criteria Provided
Single Submitter

1 SubmittersRCV005203137
NM_000321.3(RB1):c.862-10T>C SNV
Germline		 Chr13:48364884 Likely pathogenic Retinoblastoma Criteria Provided
Single Submitter

1 SubmittersRCV005203148
NM_000321.3(RB1):c.2326-1G>T SNV
Germline		 Chr13:48465204 Pathogenic Retinoblastoma Criteria Provided
Single Submitter

1 SubmittersRCV005203175
NM_000321.3(RB1):c.2520+6T>G SNV
Germline		 Chr13:48473396 Likely pathogenic Retinoblastoma Criteria Provided
Single Submitter

1 SubmittersRCV005198674
NM_000321.3(RB1):c.1695+5G>T SNV
Germline/somatic		 Chr13:48381448 Likely pathogenic Retinoblastoma
Neoplasm		 Criteria Provided
Single Submitter

2 SubmittersRCV005199078RCV006274505
NM_000321.3(RB1):c.1215+63T>G SNV
Germline		 Chr13:48373555 Likely pathogenic Retinoblastoma Criteria Provided
Single Submitter

1 SubmittersRCV005356732
NM_000321.3(RB1):c.1815-11A>G SNV
Germline		 Chr13:48456193 Likely pathogenic Retinoblastoma Criteria Provided
Single Submitter

1 SubmittersRCV005356733
NM_000321.3(RB1):c.2326-14T>C SNV
Germline		 Chr13:48465191 Likely pathogenic Retinoblastoma Criteria Provided
Single Submitter

1 SubmittersRCV005356734
NM_000321.3(RB1):c.2490-26A>C SNV
Germline		 Chr13:48473334 Likely pathogenic Retinoblastoma Criteria Provided
Single Submitter

1 SubmittersRCV005356735
NM_000321.3(RB1):c.2490-26A>G SNV
Germline		 Chr13:48473334 Likely pathogenic Retinoblastoma Criteria Provided
Single Submitter

1 SubmittersRCV005356736
NM_000321.3(RB1):c.2490-26A>T SNV
Germline		 Chr13:48473334 Likely pathogenic Retinoblastoma Criteria Provided
Single Submitter

1 SubmittersRCV005356737
NM_000321.3(RB1):c.608-3418A>G SNV
Germline		 Chr13:48356599 Likely pathogenic Retinoblastoma Criteria Provided
Single Submitter

1 SubmittersRCV005356738
NM_000321.3(RB1):c.861+828T>G SNV
Germline		 Chr13:48363785 Likely pathogenic Retinoblastoma Criteria Provided
Single Submitter

1 SubmittersRCV005356739
NM_000321.3(RB1):c.-150G>C SNV
Germline		 Chr13:48303763 Conflicting classifications of pathogenicity Retinoblastoma
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV005358538RCV005709685
NM_000321.3(RB1):c.-192G>A SNV
Germline		 Chr13:48303721 Likely pathogenic Retinoblastoma Criteria Provided
Single Submitter

1 SubmittersRCV005358539
NM_000321.3(RB1):c.-193T>A SNV
Germline		 Chr13:48303720 Likely pathogenic Retinoblastoma Criteria Provided
Single Submitter

1 SubmittersRCV005358540
NM_000321.3(RB1):c.-198G>T SNV
Germline		 Chr13:48303715 Likely pathogenic Retinoblastoma Criteria Provided
Single Submitter

1 SubmittersRCV005367893
NM_000321.3(RB1):c.1A>G (p.Met1Val) SNV
Germline		 Chr13:48303913 Likely pathogenic Hereditary cancer-predisposing syndrome
Condition: not provided
Retinoblastoma		 Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV005265933RCV005412749RCV006553488
NM_000321.3(RB1):c.64G>C (p.Ala22Pro) SNV
Germline		 Chr13:48303976 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Retinoblastoma		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV005269404RCV006489548
NM_000321.3(RB1):c.460A>T (p.Lys154Ter) SNV
Germline		 Chr13:48345159 Pathogenic Malignant tumor of urinary bladder
Retinoblastoma
Bone osteosarcoma
Small cell lung carcinoma		 Criteria Provided
Single Submitter

1 SubmittersRCV005393664
NM_000321.3(RB1):c.584G>T (p.Trp195Leu) SNV
Germline		 Chr13:48349000 Likely pathogenic Retinoblastoma Criteria Provided
Single Submitter

1 SubmittersRCV006257462
NM_000321.3(RB1):c.265-2A>G SNV
Germline		 Chr13:48342597 Pathogenic Retinoblastoma Criteria Provided
Single Submitter

1 SubmittersRCV006257676
NM_000321.3(RB1):c.265-1G>A SNV
Germline		 Chr13:48342598 Pathogenic Retinoblastoma Criteria Provided
Single Submitter

1 SubmittersRCV006509812
NM_000321.3(RB1):c.1150C>T (p.Gln384Ter) SNV
Germline		 Chr13:48373427 Pathogenic Retinoblastoma Criteria Provided
Single Submitter

1 SubmittersRCV006509815
NM_000321.3(RB1):c.2581A>T (p.Arg861Ter) SNV
Germline		 Chr13:48476761 Pathogenic Retinoblastoma Criteria Provided
Single Submitter

1 SubmittersRCV006519843
NM_000321.3(RB1):c.2490-29C>T SNV
Germline		 Chr13:48473331 Conflicting classifications of pathogenicity Retinoblastoma Criteria Provided
Conflicting Classifications

2 SubmittersRCV006517403
NM_000321.3(RB1):c.1700C>A (p.Ser567Ter) SNV
Germline		 Chr13:48452997 Pathogenic Hereditary retinoblastoma Criteria Provided
Single Submitter

1 SubmittersRCV006554995
NM_000321.3(RB1):c.1060C>T (p.Gln354Ter) SNV
Germline		 Chr13:48368537 Pathogenic Hereditary retinoblastoma Criteria Provided
Single Submitter
 rs_764547244

1 SubmittersRCV006555181
NM_000321.3(RB1):c.1063A>T (p.Arg355Ter) SNV
Germline		 Chr13:48368540 Pathogenic Hereditary retinoblastoma Criteria Provided
Single Submitter

1 SubmittersRCV006555183
NM_000321.3(RB1):c.1961-2A>C SNV
Germline		 Chr13:48459686 Pathogenic Hereditary retinoblastoma Criteria Provided
Single Submitter

1 SubmittersRCV006555190
NM_000321.3(RB1):c.138-1G>T SNV
Germline		 Chr13:48307279 Pathogenic Hereditary retinoblastoma Criteria Provided
Single Submitter
 rs_1593414337

1 SubmittersRCV006555194
NM_000321.3(RB1):c.940-2A>T SNV
Germline		 Chr13:48367492 Pathogenic Hereditary retinoblastoma Criteria Provided
Single Submitter

1 SubmittersRCV006555198