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 Malignant tumor of urinary bladder Small cell lung carcinoma Retinoblastoma Bone osteosarcoma Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA026371	rs_3092891	7 SubmittersRCV000013946 RCV000492544 RCV002496351 RCV002508188
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 SubmittersRCV000013947 RCV004700228
NM_000321.3(RB1):c.2359C>T (p.Arg787Ter)	SNV Germline	Chr13:48465238	Pathogenic	Retinoblastoma Condition: not provided Hereditary cancer-predisposing syndrome Malignant tumor of urinary bladder Small cell lung carcinoma Retinoblastoma Bone osteosarcoma	Criteria Provided Multiple Submitters No Conflicts	CA026438	rs_137853293	9 SubmittersRCV000013948 RCV000760351 RCV000492108 RCV005007842
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 SubmittersRCV000013950 RCV002399322
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 SubmittersRCV000013951 RCV000492492 RCV000725187 RCV004668727
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 SubmittersRCV000013952 RCV001229630 RCV004948134
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 SubmittersRCV000013953 RCV002272016
NM_000321.3(RB1):c.2212-1G>A	SNV Somatic	Chr13:48464997	Pathogenic	Retinoblastoma	No Assertion Criteria Provided	CA026432	rs_587776786	1 SubmittersRCV000013959
NM_000321.3(RB1):c.-189G>T	SNV Germline	Chr13:48303724	Likely pathogenic	Retinoblastoma	Criteria Provided Multiple Submitters No Conflicts	CA026384	rs_387906520	3 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 SubmittersRCV000013961 RCV000492684
NM_000321.3(RB1):c.1981C>T (p.Arg661Trp)	SNV Germline/somatic	Chr13:48459708	Pathogenic	Retinoblastoma Hereditary cancer-predisposing syndrome Retinoblastoma Bone osteosarcoma Small cell lung carcinoma Malignant tumor of urinary bladder Condition: not provided Vulvar adenocarcinoma of mammary gland type	Criteria Provided Multiple Submitters No Conflicts	CA026417	rs_137853294	13 SubmittersRCV000013962 RCV000492717 RCV000763335 RCV000790652 RCV004813036
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 SubmittersRCV000013964 RCV002426501
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 SubmittersRCV000013966 RCV000114734 RCV000492084
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 SubmittersRCV000013968 RCV000492516 RCV002466401
NM_000321.3(RB1):c.607+1G>T	SNV Germline	Chr13:48349024	Pathogenic	Retinoblastoma Condition: not provided Hereditary cancer-predisposing syndrome Malignant tumor of urinary bladder Small cell lung carcinoma Retinoblastoma Bone osteosarcoma	Criteria Provided Multiple Submitters No Conflicts	CA026463	rs_587776789	8 SubmittersRCV000013969 RCV000484757 RCV000492204 RCV004795405
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 SubmittersRCV000013970 RCV002408459
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 SubmittersRCV000013972 RCV003321482
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 SubmittersRCV000034595 RCV000566730 RCV001085189 RCV002281727 RCV003153323 RCV003944881
NM_000321.3(RB1):c.628G>T (p.Asp210Tyr)	SNV Germline	Chr13:48360037	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome not specified Retinoblastoma Malignant tumor of urinary bladder Small cell lung carcinoma Retinoblastoma Bone osteosarcoma	Criteria Provided Conflicting Classifications	CA026464	rs_148992508	10 SubmittersRCV000034597 RCV000492290 RCV000601517 RCV001079302 RCV005394201
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 SubmittersRCV000078633 RCV000114730 RCV000492734
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 SubmittersRCV000078638 RCV000573514 RCV000810054 RCV003493436
NM_000321.3(RB1):c.1960G>A (p.Val654Met)	SNV Germline/somatic	Chr13:48456349	Pathogenic	Condition: not provided Retinoblastoma	Criteria Provided Multiple Submitters No Conflicts	CA026413	rs_483352690	3 SubmittersRCV000087166 RCV001854505
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	Criteria Provided Multiple Submitters No Conflicts	CA026398	rs_121913305	7 SubmittersRCV000114677 RCV000492238 RCV000521112
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 SubmittersRCV000114680 RCV004668775 RCV004943753
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 SubmittersRCV000114683 RCV000578537
NM_000321.3(RB1):c.1961-2A>T	SNV Somatic	Chr13:48459686	Pathogenic	Retinoblastoma Neoplasm	No Assertion Criteria Provided	CA026414	rs_587778867	2 SubmittersRCV000114684 RCV004668776
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 Somatic	Chr13:48463730	Pathogenic	Retinoblastoma	No Assertion Criteria Provided	CA026422	rs_587778860	1 SubmittersRCV000114687
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 SubmittersRCV000114688 RCV001014655
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	No Assertion Criteria Provided	CA026428	rs_587778868	1 SubmittersRCV000114690
NM_000321.3(RB1):c.2212-13T>A	SNV Germline	Chr13:48464985	Likely pathogenic	Retinoblastoma	Criteria Provided Multiple Submitters No Conflicts	CA2580087662	rs_2138344431	2 SubmittersRCV000114691
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 SubmittersRCV000114697 RCV004668777 RCV004943754
NM_000321.3(RB1):c.2663+2T>C	SNV Germline/somatic	Chr13:48476845	Pathogenic	Retinoblastoma Condition: not provided	Criteria Provided Single Submitter	CA026445	rs_587778839	2 SubmittersRCV000114699 RCV003237715
NM_000321.3(RB1):c.409G>T (p.Glu137Ter)	SNV Germline	Chr13:48345108	Pathogenic	Retinoblastoma	Criteria Provided Multiple Submitters No Conflicts	CA026454	rs_121913296	3 SubmittersRCV000114702
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 SubmittersRCV000114704 RCV002326809
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	Chr13:48362859	Pathogenic	Retinoblastoma Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA026466	rs_587778842	10 SubmittersRCV000114712 RCV000492345 RCV000790825
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	Criteria Provided Multiple Submitters No Conflicts	CA026470	rs_121913300	6 SubmittersRCV000114716 RCV000492534 RCV001558107
NM_000321.3(RB1):c.1021A>T (p.Lys341Ter)	SNV Germline	Chr13:48367575	Pathogenic	Retinoblastoma	Criteria Provided Single Submitter	CA026357	rs_587778855	1 SubmittersRCV000114717
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 SubmittersRCV000114719 RCV000492362
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 Bone osteosarcoma Small cell lung carcinoma Retinoblastoma Malignant tumor of urinary bladder Malignant tumor of urinary bladder Neoplasm	Criteria Provided Multiple Submitters No Conflicts	CA026367	rs_587776783	14 SubmittersRCV000114724 RCV000492136 RCV000763334 RCV003460796 RCV005229900
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 SubmittersRCV000114726 RCV001731377
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 Hereditary cancer-predisposing syndrome Condition: not provided Malignant tumor of urinary bladder See cases	Criteria Provided Multiple Submitters No Conflicts	CA026373	rs_121913302	10 SubmittersRCV000114729 RCV000492246 RCV000486601 RCV003332117 RCV003156072
NM_000321.3(RB1):c.1654C>T (p.Arg552Ter)	SNV Germline/somatic	Chr13:48381402	Pathogenic	Retinoblastoma Hereditary cancer-predisposing syndrome Condition: not provided Malignant tumor of urinary bladder	Criteria Provided Multiple Submitters No Conflicts	CA026383	rs_121913303	7 SubmittersRCV000114733 RCV000492730 RCV004589553 RCV003332118
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 SubmittersRCV000114735 RCV003332119
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 SubmittersRCV000121902 RCV000761023 RCV001022254 RCV001036592
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 SubmittersRCV000121915 RCV000477348 RCV000569325 RCV003945101
NM_000321.3(RB1):c.1573G>A (p.Ala525Thr)	SNV Germline	Chr13:48381321	Conflicting classifications of pathogenicity	not specified Retinoblastoma Ovarian cancer Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA026380	rs_587778640	7 SubmittersRCV000121919 RCV000701091 RCV003153399 RCV002399489 RCV004589589
NM_000321.3(RB1):c.1861C>A (p.Arg621Ser)	SNV Germline	Chr13:48456250	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Condition: not provided Retinoblastoma RB1-related disorder	Criteria Provided Conflicting Classifications	CA026403	rs_367578442	7 SubmittersRCV000121920 RCV000572000 RCV001570931 RCV000457901 RCV003905163
NM_000321.3(RB1):c.1862G>A (p.Arg621His)	SNV Germline	Chr13:48456251	Conflicting classifications of pathogenicity	not specified Retinoblastoma Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA026404	rs_373601944	5 SubmittersRCV000121922 RCV001083762 RCV001013435 RCV003441744
NM_000321.3(RB1):c.920C>T (p.Thr307Ile)	SNV Germline	Chr13:48364952	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Condition: not provided Retinoblastoma	Criteria Provided Conflicting Classifications	CA026468	rs_183898408	15 SubmittersRCV000121926 RCV000492127 RCV001719890 RCV000989112
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	6 SubmittersRCV000153812 RCV000723933 RCV001483212 RCV002255133 RCV003975205
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 SubmittersRCV000175271 RCV001388989
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	3 SubmittersRCV000176258 RCV002054075 RCV003927622
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 SubmittersRCV000177038 RCV000492718 RCV001386156
NM_024675.4(PALB2):c.1337A>T (p.Asp446Val)	SNV Germline	Chr16:23635209	Conflicting classifications of pathogenicity	Familial cancer of breast Retinoblastoma Condition: not provided Hereditary cancer-predisposing syndrome not specified Fanconi anemia complementation group N Familial cancer of breast Pancreatic cancer, susceptibility to, 3 PALB2-related disorder Breast-ovarian cancer, familial, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA339587	rs_146434474	12 SubmittersRCV000200861 RCV000761148 RCV000255070 RCV000562823 RCV001194137 RCV002492922 RCV004530198 RCV005600809
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 Juvenile myelomonocytic leukemia Neurofibromatosis, familial spinal Neurofibromatosis, type 1 Neurofibromatosis-Noonan syndrome Café-au-lait macules with pulmonary stenosis	Criteria Provided Conflicting Classifications	CA350098	rs_864622373	6 SubmittersRCV000206031 RCV000761161 RCV001753612 RCV002317736 RCV005008146
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 SubmittersRCV000232627 RCV000456021 RCV000563177 RCV000730555
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 SubmittersRCV000234228 RCV000492351
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	7 SubmittersRCV000232184 RCV001015828 RCV003417806
NM_002382.5(MAX):c.397G>A (p.Ala133Thr)	SNV Germline	Chr14:65076562	Conflicting classifications of pathogenicity	Hereditary pheochromocytoma-paraganglioma Hereditary cancer-predisposing syndrome Retinoblastoma Pheochromocytoma	Criteria Provided Conflicting Classifications	CA7232798	rs_750459929	5 SubmittersRCV000227155 RCV000567888 RCV000761172 RCV001111565
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	4 SubmittersRCV000238879 RCV001013283
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	Criteria Provided Conflicting Classifications	CA028530	rs_200658795	8 SubmittersRCV000242334 RCV000372212 RCV001705333 RCV002392760
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 SubmittersRCV000275303 RCV000492651 RCV004556776
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 SubmittersRCV000382603 RCV001085098 RCV002401991
NM_000321.3(RB1):c.1510C>T (p.Gln504Ter)	SNV Germline	Chr13:48381258	Pathogenic	Condition: not provided Retinoblastoma	Criteria Provided Multiple Submitters No Conflicts	CA10605288	rs_886043247	3 SubmittersRCV000387387 RCV001855163
NM_000321.3(RB1):c.2489+1G>C	SNV Germline/somatic	Chr13:48465369	Pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Retinoblastoma	Criteria Provided Multiple Submitters No Conflicts	CA10605763	rs_764754259	4 SubmittersRCV000407067 RCV000492739 RCV004556777
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 SubmittersRCV000269222 RCV002356422
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 SubmittersRCV000342520 RCV002258873
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	3 SubmittersRCV000342053 RCV001012678
NM_000321.3(RB1):c.2003G>A (p.Arg668His)	SNV Germline	Chr13:48459730	Conflicting classifications of pathogenicity	Retinoblastoma Hereditary cancer-predisposing syndrome not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA033741	rs_551747882	5 SubmittersRCV000397474 RCV001014061 RCV004767226 RCV003441836
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	6 SubmittersRCV000306444 RCV001014403 RCV002305481 RCV003463782
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 Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA035361	rs_748094394	6 SubmittersRCV000455977 RCV000459571 RCV000859119 RCV000566207
NM_000321.3(RB1):c.613G>A (p.Val205Ile)	SNV Germline	Chr13:48360022	Conflicting classifications of pathogenicity	Retinoblastoma Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA039119	rs_770100636	2 SubmittersRCV000476876 RCV001024932
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 SubmittersRCV000466550 RCV002411502
NM_000321.3(RB1):c.1073G>A (p.Arg358Gln)	SNV Germline	Chr13:48368550	Conflicting classifications of pathogenicity	Retinoblastoma Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA027547	rs_767011440	4 SubmittersRCV000469444 RCV003318582 RCV002418415
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 SubmittersRCV000457051 RCV002402288
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 Condition: not provided RB1-related disorder	Criteria Provided Conflicting Classifications	CA035443	rs_187912365	7 SubmittersRCV000467563 RCV000566527 RCV004708916 RCV003942492
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 SubmittersRCV000461996 RCV002393152
NM_000321.3(RB1):c.898A>C (p.Met300Leu)	SNV Germline	Chr13:48364930	Conflicting classifications of pathogenicity	Retinoblastoma Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA16614038	rs_1060503086	5 SubmittersRCV000471474 RCV005230406 RCV002374802
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 SubmittersRCV000471628 RCV000492335
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 SubmittersRCV000460516 RCV000565788 RCV001821287
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 SubmittersRCV000465473 RCV001013560 RCV003227760
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 SubmittersRCV000466407 RCV001013858
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	4 SubmittersRCV000463858 RCV002255412
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	Criteria Provided Conflicting Classifications	CA036169	rs_149359120	10 SubmittersRCV000467622 RCV000492588 RCV000761059 RCV001555707 RCV001821379 RCV003925378
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	3 SubmittersRCV000470650 RCV001017708
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 SubmittersRCV000469761 RCV002356696
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	4 SubmittersRCV000466200 RCV000492148 RCV003470478
NM_000321.3(RB1):c.1389+1G>T	SNV Germline	Chr13:48379651	Pathogenic	Retinoblastoma	Criteria Provided Multiple Submitters No Conflicts	CA16614310	rs_1060503087	2 SubmittersRCV000462245
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	5 SubmittersRCV000462974 RCV001011725 RCV001753905 RCV003153636
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	5 SubmittersRCV000477144 RCV001012950 RCV003463953
NM_000321.3(RB1):c.2491A>G (p.Ile831Val)	SNV Germline	Chr13:48473361	Conflicting classifications of pathogenicity	Retinoblastoma Hereditary cancer-predisposing syndrome not specified	Criteria Provided Conflicting Classifications	CA035903	rs_761068783	4 SubmittersRCV000467333 RCV001015689 RCV003479127
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	3 SubmittersRCV000456691 RCV001015371
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	Criteria Provided Multiple Submitters No Conflicts	CA16619811	rs_587776789	7 SubmittersRCV000483814 RCV000492670 RCV000786882 RCV002525820
NM_000321.3(RB1):c.1268G>A (p.Gly423Glu)	SNV Germline	Chr13:48376970	Conflicting classifications of pathogenicity	Retinoblastoma Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA028058	rs_748635133	6 SubmittersRCV000531874 RCV000480107 RCV001010666
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 SubmittersRCV000492283 RCV001856950
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 SubmittersRCV000492187 RCV004556798 RCV001591131
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 SubmittersRCV000492301 RCV000814584
NM_000321.3(RB1):c.380+1G>A	SNV Germline/somatic	Chr13:48342715	Pathogenic	Retinoblastoma Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA388252578	rs_1131690902	3 SubmittersRCV001290126 RCV000492145
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 SubmittersRCV000492213 RCV002523986
NM_000321.3(RB1):c.644C>A (p.Ser215Ter)	SNV Germline	Chr13:48360053	Pathogenic	Hereditary cancer-predisposing syndrome Retinoblastoma	Criteria Provided Multiple Submitters No Conflicts	CA388158248	rs_768305224	2 SubmittersRCV000492073 RCV000812389
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 SubmittersRCV000492435 RCV003514369
NM_000321.3(RB1):c.718+5G>T	SNV Germline	Chr13:48360132	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Retinoblastoma	Criteria Provided Conflicting Classifications	CA645369535	rs_1131690848	3 SubmittersRCV000492375 RCV001070474
NM_000321.3(RB1):c.751C>T (p.Arg251Ter)	SNV Germline/somatic	Chr13:48362847	Pathogenic	Hereditary cancer-predisposing syndrome Retinoblastoma Neoplasm	Criteria Provided Multiple Submitters No Conflicts	CA388159319	rs_1131690863	7 SubmittersRCV000492399 RCV000548468 RCV004669004
NM_000321.3(RB1):c.857A>G (p.Asp286Gly)	SNV Germline	Chr13:48362953	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Retinoblastoma	Criteria Provided Multiple Submitters No Conflicts	CA388159708	rs_1131690864	3 SubmittersRCV000492155 RCV000684899
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 SubmittersRCV000492095 RCV000701287
NM_000321.3(RB1):c.1128-2A>G	SNV Germline	Chr13:48373403	Pathogenic	Hereditary cancer-predisposing syndrome Retinoblastoma	Criteria Provided Multiple Submitters No Conflicts	CA388161421	rs_1131690892	2 SubmittersRCV000492690 RCV004556797
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 SubmittersRCV000492255 RCV003403138 RCV005091032
NM_000321.3(RB1):c.1345G>A (p.Gly449Arg)	SNV Germline	Chr13:48379606	Pathogenic/Likely pathogenic	Retinoblastoma Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA388162556	rs_1131690851	3 SubmittersRCV000698759 RCV000492212
NM_000321.3(RB1):c.1372G>T (p.Glu458Ter)	SNV Germline	Chr13:48379633	Pathogenic	Hereditary cancer-predisposing syndrome Retinoblastoma	Criteria Provided Multiple Submitters No Conflicts	CA388162615	rs_1131690884	2 SubmittersRCV000492526 RCV003514368
NM_000321.3(RB1):c.1421+1G>C	SNV Germline	Chr13:48380085	Pathogenic/Likely pathogenic	Retinoblastoma Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA388162744	rs_1131690886	2 SubmittersRCV001382143 RCV000492392
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 SubmittersRCV000492634 RCV001042740
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 SubmittersRCV004556799 RCV000492294
NM_000321.3(RB1):c.1960+5G>C	SNV Germline	Chr13:48456354	Pathogenic	Hereditary cancer-predisposing syndrome Retinoblastoma	Criteria Provided Multiple Submitters No Conflicts	CA645369526	rs_587778871	2 SubmittersRCV000492192 RCV002523442
NM_000321.3(RB1):c.2094G>C (p.Arg698Ser)	SNV Germline	Chr13:48459821	Conflicting classifications of pathogenicity	Retinoblastoma Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA388166951	rs_1131690891	3 SubmittersRCV001294065 RCV000492514
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 SubmittersRCV000492322 RCV001856949
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 SubmittersRCV000492539 RCV000523250 RCV003514370
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 SubmittersRCV000492748 RCV001228827
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 SubmittersRCV000492489 RCV004820851
NM_000321.3(RB1):c.2520+1G>T	SNV Germline	Chr13:48473391	Pathogenic	Hereditary cancer-predisposing syndrome Retinoblastoma	Criteria Provided Multiple Submitters No Conflicts	CA388168168	rs_587778850	2 SubmittersRCV000492732 RCV000686279
NM_000321.3(RB1):c.2520+5G>A	SNV Germline	Chr13:48473395	Pathogenic/Likely pathogenic	Retinoblastoma Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA645369529	rs_1131690881	3 SubmittersRCV001384071 RCV000492733
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	5 SubmittersRCV000525619 RCV000568188 RCV001262454
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	6 SubmittersRCV000528113 RCV001022812 RCV001545276 RCV003905338
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	5 SubmittersRCV000545275 RCV001025836 RCV003470734 RCV004721416
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 SubmittersRCV000559948 RCV002367788 RCV003470735
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.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 SubmittersRCV000541847 RCV002395310 RCV004592554
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 SubmittersRCV000539938 RCV001015403 RCV003327413
NM_000321.3(RB1):c.269G>T (p.Gly90Val)	SNV Germline	Chr13:48342603	Conflicting classifications of pathogenicity	Retinoblastoma Bone osteosarcoma Malignant tumor of urinary bladder Small cell lung carcinoma Retinoblastoma Hereditary cancer-predisposing syndrome Malignant tumor of urinary bladder Condition: not provided	Criteria Provided Conflicting Classifications	CA037060	rs_554727080	5 SubmittersRCV000559096 RCV000763897 RCV002438313 RCV003470733 RCV004772957
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	4 SubmittersRCV000549050 RCV001016457 RCV002281103
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 SubmittersRCV000550618 RCV002395309
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	3 SubmittersRCV000537562 RCV001016379
NM_000321.3(RB1):c.905C>A (p.Ser302Tyr)	SNV Germline	Chr13:48364937	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	CA388159994	rs_1208736713	5 SubmittersRCV000525153 RCV001018731 RCV005010493
NM_000321.3(RB1):c.940-1G>T	SNV Germline	Chr13:48367493	Pathogenic	Retinoblastoma	Criteria Provided Single Submitter	CA388160564	rs_1131690860	1 SubmittersRCV000541021
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 SubmittersRCV000541581 RCV002431548 RCV003235276
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	6 SubmittersRCV000535183 RCV001015075 RCV003459200 RCV005001076
NM_000321.3(RB1):c.2356C>T (p.Pro786Ser)	SNV Germline	Chr13:48465235	Conflicting classifications of pathogenicity	Retinoblastoma Medulloblastoma Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA035332	rs_754507551	5 SubmittersRCV000528489 RCV000761011 RCV001015131
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.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 SubmittersRCV000544257 RCV003470732 RCV005470450
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	5 SubmittersRCV000533722 RCV001026275 RCV004772958
NM_000321.3(RB1):c.850A>G (p.Asn284Asp)	SNV Germline	Chr13:48362946	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	CA039582	rs_761609284	5 SubmittersRCV000541240 RCV001017932 RCV000763900
NM_000321.3(RB1):c.1333-2A>G	SNV Germline	Chr13:48379592	Pathogenic	Retinoblastoma	Criteria Provided Multiple Submitters No Conflicts	CA388162526	rs_1555286503	2 SubmittersRCV000543344
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	4 SubmittersRCV000552996 RCV000563507 RCV002510914
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	5 SubmittersRCV000575829 RCV000706270 RCV001770524 RCV004569285
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 SubmittersRCV000589929 RCV004556806
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 SubmittersRCV000590064 RCV000632925
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	4 SubmittersRCV000632965 RCV002325217
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	3 SubmittersRCV000632945 RCV001010249 RCV002307568
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	3 SubmittersRCV000632943 RCV001016407 RCV004719909
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 SubmittersRCV000632939 RCV001010099
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 Malignant tumor of urinary bladder Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA388161247	rs_1270702085	4 SubmittersRCV000632962 RCV003459513 RCV002448949
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	4 SubmittersRCV000632967 RCV002358772 RCV004568383 RCV004777781
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 SubmittersRCV000632936 RCV001014744
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 Condition: not provided RB1-related disorder	Criteria Provided Conflicting Classifications	CA249842033	rs_896487590	4 SubmittersRCV000632948 RCV001017289 RCV003235319 RCV003420095
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	6 SubmittersRCV000632972 RCV002343228 RCV003392470 RCV003411502
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 SubmittersRCV000632958 RCV002343227
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 SubmittersRCV000632964 RCV001013423
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	4 SubmittersRCV000632953 RCV001014843 RCV003459512
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	2 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	4 SubmittersRCV000697674 RCV002386221
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 SubmittersRCV000689697 RCV005470490
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	3 SubmittersRCV000704707 RCV001014847
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 SubmittersRCV000698668 RCV002360783 RCV003460955
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 SubmittersRCV000688608 RCV002440436 RCV003117490
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	4 SubmittersRCV000699680 RCV001017125 RCV005231289
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	Criteria Provided Multiple Submitters No Conflicts	CA388156866	rs_1566187856	7 SubmittersRCV000702435 RCV001024025 RCV004569371 RCV004792408
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	3 SubmittersRCV000704004 RCV003380697
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 SubmittersRCV000695277 RCV005470495
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 SubmittersRCV000692624 RCV002422501 RCV003892543
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 SubmittersRCV000693421 RCV005231280
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.34A>T (p.Thr12Ser)	SNV Germline	Chr13:48303946	Conflicting classifications of pathogenicity	Retinoblastoma Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA388250196	rs_1566174063	2 SubmittersRCV000703761 RCV001020458
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 SubmittersRCV000692163 RCV001024341
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 Retinoblastoma Malignant tumor of urinary bladder Bone osteosarcoma Small cell lung carcinoma Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA039463	rs_772678500	4 SubmittersRCV000697570 RCV000763899 RCV002388279
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	6 SubmittersRCV000699465 RCV001026628 RCV003460960 RCV004768584
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	3 SubmittersRCV000686681 RCV001014347
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 Malignant tumor of urinary bladder Condition: not provided	Criteria Provided Conflicting Classifications	CA388252801	rs_1319691084	5 SubmittersRCV000697025 RCV002334328 RCV004569338 RCV003238804
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 SubmittersRCV000700816 RCV002397449
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 SubmittersRCV000699895 RCV003163242
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 SubmittersRCV000697663 RCV003332236
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	3 SubmittersRCV000687998 RCV002388212
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 SubmittersRCV000722024 RCV001759441 RCV005470508
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 SubmittersRCV000722030 RCV005235476
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 SubmittersRCV000786934 RCV002397558
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 SubmittersRCV000822727 RCV005260447
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 SubmittersRCV000799491 RCV001018600 RCV003467377 RCV005231348
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 Condition: not provided Malignant tumor of urinary bladder Bone osteosarcoma Small cell lung carcinoma Retinoblastoma	Criteria Provided Conflicting Classifications	CA388252479	rs_1593434250	6 SubmittersRCV000822166 RCV001020197 RCV004569769 RCV004800605 RCV005012375
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 SubmittersRCV000806858 RCV002264985
NM_000321.3(RB1):c.897T>A (p.Phe299Leu)	SNV Germline	Chr13:48364929	Conflicting classifications of pathogenicity	Retinoblastoma Hereditary cancer-predisposing syndrome Retinoblastoma Malignant tumor of urinary bladder Bone osteosarcoma Small cell lung carcinoma	Criteria Provided Conflicting Classifications	CA039787	rs_772362181	4 SubmittersRCV000812372 RCV002370189 RCV005012354
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	5 SubmittersRCV000823567 RCV002319924 RCV003128716 RCV003467519
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 SubmittersRCV000794747 RCV002386391
NM_000321.3(RB1):c.1410T>G (p.Ile470Met)	SNV Germline	Chr13:48380073	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Retinoblastoma Malignant tumor of urinary bladder	Criteria Provided Conflicting Classifications	CA249281342	rs_578226820	5 SubmittersRCV002255534 RCV000812984 RCV003461212
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 SubmittersRCV000799793 RCV002397604
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	3 SubmittersRCV000792877 RCV002397570
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	4 SubmittersRCV000804246 RCV002406789 RCV004588266
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	3 SubmittersRCV000802384 RCV004028105
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	3 SubmittersRCV000795079 RCV002458421 RCV004569532
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 SubmittersRCV000814186 RCV002433970 RCV003461220
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 SubmittersRCV000808820 RCV003344066 RCV003467429
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 SubmittersRCV000834973 RCV001481225 RCV002249535 RCV002256557
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 SubmittersRCV000866271 RCV002510994 RCV002442821
NM_000321.3(RB1):c.2393G>A (p.Arg798Gln)	SNV Germline	Chr13:48465272	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Condition: not provided Retinoblastoma	Criteria Provided Conflicting Classifications	CA035464	rs_374523971	8 SubmittersRCV001015383 RCV002249562 RCV002510996 RCV000870444
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	3 SubmittersRCV000868331 RCV001015621 RCV003228999
NM_000321.3(RB1):c.608-7T>G	SNV Germline	Chr13:48360010	Conflicting classifications of pathogenicity	Retinoblastoma	Criteria Provided Conflicting Classifications	CA039089	rs_746360576	2 SubmittersRCV000949866
NM_000321.3(RB1):c.2714-7T>C	SNV Germline	Chr13:48479991	Conflicting classifications of pathogenicity	Retinoblastoma Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA037347	rs_751697681	3 SubmittersRCV000973882 RCV002256637
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 SubmittersRCV000981682 RCV002354884
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 SubmittersRCV000983840 RCV002258081
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 SubmittersRCV000983803 RCV002258080
NM_000321.3(RB1):c.1216-2A>G	SNV Unknown	Chr13:48376916	Pathogenic	Retinoblastoma	Criteria Provided Single Submitter	CA388161922	rs_1593453973	1 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	3 SubmittersRCV001013987 RCV003514455
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	4 SubmittersRCV001020579 RCV001069942
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 SubmittersRCV001021530 RCV001035290
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	5 SubmittersRCV001024323 RCV001246900 RCV004761881
NM_000321.3(RB1):c.1240A>C (p.Ser414Arg)	SNV Germline	Chr13:48376942	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Retinoblastoma Malignant tumor of urinary bladder Bone osteosarcoma Small cell lung carcinoma Retinoblastoma	Criteria Provided Conflicting Classifications	CA249280048	rs_974956317	3 SubmittersRCV001010519 RCV001043640 RCV005012442
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	3 SubmittersRCV001011110 RCV001811622 RCV001788396
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	3 SubmittersRCV001011323 RCV003626657
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	4 SubmittersRCV001014746 RCV001306596 RCV003442144
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	3 SubmittersRCV001015510 RCV001295727
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 SubmittersRCV001015514 RCV001860796 RCV003461352
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	5 SubmittersRCV001016108 RCV001359224 RCV003411950 RCV004569948
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	3 SubmittersRCV001016519 RCV001233281 RCV005416440
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 SubmittersRCV001011288 RCV003514452
NM_000321.3(RB1):c.1422-4T>G	SNV Germline	Chr13:48380161	Conflicting classifications of pathogenicity	Retinoblastoma Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA249281416	rs_201554179	3 SubmittersRCV001110584 RCV001011513
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 SubmittersRCV001015687 RCV002068917
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 SubmittersRCV001056115 RCV002327320 RCV004570214
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 SubmittersRCV001044302 RCV003160322
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 SubmittersRCV001051798 RCV002320287 RCV004570187
NM_000321.3(RB1):c.1496G>A (p.Ser499Asn)	SNV Germline	Chr13:48380239	Conflicting classifications of pathogenicity	Retinoblastoma Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA028947	rs_774706300	5 SubmittersRCV001050300 RCV002393246 RCV002286805
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 SubmittersRCV001067783 RCV002402461 RCV004773289
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 SubmittersRCV001066595 RCV003117734 RCV004671208
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 SubmittersRCV001064630 RCV002509605
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	4 SubmittersRCV001035332 RCV002427480 RCV003461427
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 SubmittersRCV001056968 RCV001593230
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 SubmittersRCV001036639 RCV004659298
NM_000321.3(RB1):c.2326-2A>G	SNV Germline	Chr13:48465203	Pathogenic/Likely pathogenic	Retinoblastoma Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA388167744	rs_1949432057	2 SubmittersRCV001057987 RCV004950207
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 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA029297	rs_761257231	4 SubmittersRCV001220561 RCV003163697 RCV005601714
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 SubmittersRCV001213879 RCV002256701
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 SubmittersRCV001208925 RCV004033749
NM_000321.3(RB1):c.1960+1G>T	SNV Germline	Chr13:48456350	Pathogenic	Retinoblastoma	Criteria Provided Multiple Submitters No Conflicts	CA388166321	rs_1949360306	3 SubmittersRCV001206314
NM_000321.3(RB1):c.1960+2T>G	SNV Germline	Chr13:48456351	Pathogenic	Retinoblastoma	Criteria Provided Single Submitter	CA388166323	rs_587776780	1 SubmittersRCV001213175
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	Criteria Provided Conflicting Classifications	CA249846378	rs_1034616967	2 SubmittersRCV001226438 RCV002339613
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 SubmittersRCV001230746 RCV003227011 RCV004033102
NM_000321.3(RB1):c.381-2A>G	SNV Germline	Chr13:48345078	Pathogenic	Retinoblastoma	Criteria Provided Single Submitter	CA388252584	rs_1952480014	1 SubmittersRCV001243830
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 SubmittersRCV001257128 RCV002402800
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 SubmittersRCV001290127 RCV002393689
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	Criteria Provided Single Submitter	CA388160104	rs_2138116708	1 SubmittersRCV001523805
NM_000321.3(RB1):c.1206C>T (p.Ser402=)	SNV Germline	Chr13:48373483	Conflicting classifications of pathogenicity	Retinoblastoma Bone osteosarcoma Malignant tumor of urinary bladder Small cell lung carcinoma Retinoblastoma Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA027808	rs_752679968	6 SubmittersRCV001523806 RCV005012722 RCV003166626
NM_000321.3(RB1):c.1333-1G>A	SNV Germline	Chr13:48379593	Pathogenic	Hereditary cancer-predisposing syndrome Retinoblastoma	Criteria Provided Multiple Submitters No Conflicts	CA388162530	rs_2138140730	4 SubmittersRCV002379981 RCV001523795
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 SubmittersRCV001523846 RCV004944961
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	Condition: not provided not specified Retinoblastoma Hereditary cancer-predisposing syndrome Malignant tumor of urinary bladder	Criteria Provided Conflicting Classifications	CA249842006	rs_1014776340	6 SubmittersRCV002462902 RCV003120538 RCV001292913 RCV002256730 RCV003462853
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.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 SubmittersRCV001312652 RCV003166780 RCV003469537
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 SubmittersRCV001338265 RCV003169590
NM_000321.3(RB1):c.1589A>G (p.Lys530Arg)	SNV Germline	Chr13:48381337	Pathogenic/Likely pathogenic	Retinoblastoma	Criteria Provided Multiple Submitters No Conflicts	CA388163655	rs_1948534047	2 SubmittersRCV001340617
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	3 SubmittersRCV001349024 RCV002447426
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 SubmittersRCV001346737 RCV002431977
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 SubmittersRCV001339753 RCV002431949
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	Criteria Provided Single Submitter	CA388250543	rs_2138034131	1 SubmittersRCV001389644
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 SubmittersRCV001380999 RCV004671380
NM_000321.3(RB1):c.1332G>A (p.Gln444=)	SNV Germline	Chr13:48377034	Pathogenic	Retinoblastoma Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA483559134	rs_1555286250	3 SubmittersRCV001383900 RCV004774442
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 SubmittersRCV001387462 RCV003120595
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	3 SubmittersRCV001384072 RCV002456599
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.2211+2T>C	SNV Germline	Chr13:48463837	Pathogenic/Likely pathogenic	Retinoblastoma Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA388167243	rs_2138342748	5 SubmittersRCV001533519 RCV002511095 RCV004656624
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.861+1G>T	SNV Germline	Chr13:48362958	Pathogenic	Condition: not provided Retinoblastoma	Criteria Provided Multiple Submitters No Conflicts	CA388159725	rs_2138112893	2 SubmittersRCV001806855 RCV005095189
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 SubmittersRCV001809313 RCV002343870
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 SubmittersRCV001959630 RCV005264130
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 SubmittersRCV001959657 RCV004656791
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	Criteria Provided Single Submitter	CA388250525	rs_2138034088	1 SubmittersRCV001938303
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 SubmittersRCV001950933 RCV003332367
NM_000321.3(RB1):c.381T>C (p.Ser127=)	SNV Germline	Chr13:48345080	Conflicting classifications of pathogenicity	Retinoblastoma Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA038058	rs_780321508	3 SubmittersRCV002018267 RCV004947047 RCV004694137
NM_000321.3(RB1):c.2211+5G>A	SNV Germline	Chr13:48463840	Pathogenic	Retinoblastoma	Criteria Provided Multiple Submitters No Conflicts	CA2573149615	rs_1593538236	2 SubmittersRCV001953851
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 SubmittersRCV002002440 RCV003325592
NM_000321.3(RB1):c.2211+1G>A	SNV Germline	Chr13:48463836	Pathogenic	Retinoblastoma Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA388167240	rs_1949420231	3 SubmittersRCV002037927 RCV004656781
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 SubmittersRCV001954350 RCV004044474
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 SubmittersRCV002013928 RCV002425412
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 SubmittersRCV002034922 RCV003163999 RCV004774473 RCV004571125
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	2 SubmittersRCV001899006 RCV002370492
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 SubmittersRCV001959117 RCV002352655
NM_000321.3(RB1):c.1128-1G>A	SNV Germline/somatic	Chr13:48373404	Pathogenic	Retinoblastoma Condition: not provided Neoplasm	Criteria Provided Multiple Submitters No Conflicts	CA388161425	rs_2138130852	3 SubmittersRCV002044891 RCV002466706 RCV004671457
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 SubmittersRCV001930960 RCV004043624
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 SubmittersRCV001962427 RCV003303450
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 SubmittersRCV002027081 RCV002256892 RCV003154233
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	2 SubmittersRCV002027161 RCV002331637
NM_000321.3(RB1):c.452T>A (p.Leu151Gln)	SNV Germline	Chr13:48345151	Conflicting classifications of pathogenicity	Retinoblastoma Malignant tumor of urinary bladder Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA388252753	rs_2138087581	4 SubmittersRCV002215491 RCV004572034 RCV002337243
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 SubmittersRCV002091475 RCV002259161
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 SubmittersRCV002103556 RCV002258379
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 SubmittersRCV002226075 RCV003093889
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 SubmittersRCV002255898 RCV003094216
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 SubmittersRCV002255900 RCV003626697
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	Criteria Provided Multiple Submitters No Conflicts	CA388157676	rs_2138359672	2 SubmittersRCV002272670
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	Retinoblastoma Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA2575413292	rs_2138087127	2 SubmittersRCV003626715 RCV002355273
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 SubmittersRCV002344894 RCV004556852
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 SubmittersRCV002371407 RCV003514571
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 SubmittersRCV002383517 RCV003138241
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 SubmittersRCV002389341 RCV004556856
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 SubmittersRCV002410304 RCV004556859
NM_000321.3(RB1):c.1389+1G>A	SNV Germline	Chr13:48379651	Pathogenic	Hereditary cancer-predisposing syndrome Retinoblastoma	Criteria Provided Multiple Submitters No Conflicts	CA388162656	rs_1060503087	2 SubmittersRCV002396599 RCV004556855
NM_000321.3(RB1):c.1050-5T>C	SNV Germline	Chr13:48368522	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Retinoblastoma	Criteria Provided Conflicting Classifications	CA2580087574	rs_2542189673	2 SubmittersRCV002401280 RCV003626764
NM_000321.3(RB1):c.17C>T (p.Pro6Leu)	SNV Germline	Chr13:48303929	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Malignant tumor of urinary bladder Retinoblastoma	Criteria Provided Conflicting Classifications	CA032568	rs_755482658	3 SubmittersRCV002407875 RCV004572441 RCV003626773
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 SubmittersRCV002383678 RCV004556853
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 SubmittersRCV002381134 RCV004556854
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 SubmittersRCV002421744 RCV003097392
NM_000321.3(RB1):c.2042G>A (p.Trp681Ter)	SNV Germline	Chr13:48459769	Pathogenic	Hereditary cancer-predisposing syndrome Retinoblastoma	Criteria Provided Multiple Submitters No Conflicts	CA388166827	rs_2138336207	2 SubmittersRCV002419958 RCV003101027
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 SubmittersRCV002430898 RCV003514584
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 SubmittersRCV002430728 RCV003101843
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 SubmittersRCV002452742 RCV002473385 RCV003514585
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 SubmittersRCV002424072 RCV003098609
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 SubmittersRCV002459712 RCV003126253 RCV003775231
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 SubmittersRCV002466773 RCV003514591
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 SubmittersRCV003062586 RCV004070143
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	2 SubmittersRCV002603226 RCV004068936
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 SubmittersRCV002620192 RCV005264371
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 SubmittersRCV002608616 RCV004656942
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 SubmittersRCV002811691 RCV004948795
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 SubmittersRCV002886337 RCV004774755 RCV004673732
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	2 SubmittersRCV002975733 RCV004068282
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 SubmittersRCV003027945 RCV004673777
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 SubmittersRCV004009548 RCV004137165
NM_000321.3(RB1):c.501-2A>G	SNV Germline	Chr13:48347823	Conflicting classifications of pathogenicity	Condition: not provided Retinoblastoma Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA388156770	rs_2138091518	3 SubmittersRCV003123180 RCV003626809 RCV003294636
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 SubmittersRCV003154518 RCV004556864
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 SubmittersRCV003154718 RCV003626813 RCV004661626
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 SubmittersRCV003323149 RCV004556870
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 SubmittersRCV003471813 RCV003626873
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	3 SubmittersRCV003463481 RCV005264419 RCV004808489
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 SubmittersRCV003515399 RCV004780569
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	Criteria Provided Multiple Submitters No Conflicts	CA2622980714	rs_2138131373	2 SubmittersRCV003516351
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.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	Retinoblastoma	Criteria Provided Single Submitter	CA955793850	rs_80122842	1 SubmittersRCV003627703
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 SubmittersRCV003627459 RCV004775488
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
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 SubmittersRCV004013333 RCV005264545
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 SubmittersRCV004557025 RCV004674019
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	Criteria Provided Multiple Submitters No Conflicts		rs_2138123114	2 SubmittersRCV004557028 RCV004701913
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	Criteria Provided Single Submitter		rs_2138136154	1 SubmittersRCV004557040
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 Single Submitter		rs_4151534	1 SubmittersRCV004557046
NM_000321.3(RB1):c.1331A>T (p.Gln444Leu)	SNV Germline	Chr13:48377033	Likely pathogenic	Retinoblastoma	Criteria Provided Single Submitter		rs_2138136810	1 SubmittersRCV004557050
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	Criteria Provided Single Submitter		rs_1555279228	1 SubmittersRCV004557099
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	Criteria Provided Single Submitter		rs_2138331657	1 SubmittersRCV004557118
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 SubmittersRCV004557123 RCV005475541
NM_000321.3(RB1):c.1970T>C (p.Leu657Pro)	SNV Germline	Chr13:48459697	Likely pathogenic	Retinoblastoma	Criteria Provided Single Submitter		rs_562956970	1 SubmittersRCV004557129

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
Malignant tumor of urinary bladder
Small cell lung carcinoma
Retinoblastoma
Bone osteosarcoma
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA026371

rs_3092891

7 SubmittersRCV000013946 RCV000492544 RCV002496351 RCV002508188

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 SubmittersRCV000013947 RCV004700228

NM_000321.3(RB1):c.2359C>T (p.Arg787Ter)

SNV
Germline

Chr13:48465238

Pathogenic

Retinoblastoma
Condition: not provided
Hereditary cancer-predisposing syndrome
Malignant tumor of urinary bladder
Small cell lung carcinoma
Retinoblastoma
Bone osteosarcoma

Criteria Provided
Multiple Submitters
No Conflicts

CA026438

rs_137853293

9 SubmittersRCV000013948 RCV000760351 RCV000492108 RCV005007842

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 SubmittersRCV000013950 RCV002399322

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 SubmittersRCV000013951 RCV000492492 RCV000725187 RCV004668727

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 SubmittersRCV000013952 RCV001229630 RCV004948134

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 SubmittersRCV000013953 RCV002272016

NM_000321.3(RB1):c.2212-1G>A

SNV
Somatic

Chr13:48464997

Pathogenic

Retinoblastoma

No Assertion Criteria Provided

CA026432

rs_587776786

1 SubmittersRCV000013959

NM_000321.3(RB1):c.-189G>T

SNV
Germline

Chr13:48303724

Likely pathogenic

Retinoblastoma

Criteria Provided
Multiple Submitters
No Conflicts

CA026384

rs_387906520

3 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 SubmittersRCV000013961 RCV000492684

NM_000321.3(RB1):c.1981C>T (p.Arg661Trp)

SNV
Germline/somatic

Chr13:48459708

Pathogenic

Retinoblastoma
Hereditary cancer-predisposing syndrome
Retinoblastoma
Bone osteosarcoma
Small cell lung carcinoma
Malignant tumor of urinary bladder
Condition: not provided
Vulvar adenocarcinoma of mammary gland type

Criteria Provided
Multiple Submitters
No Conflicts

CA026417

rs_137853294

13 SubmittersRCV000013962 RCV000492717 RCV000763335 RCV000790652 RCV004813036

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 SubmittersRCV000013964 RCV002426501

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 SubmittersRCV000013966 RCV000114734 RCV000492084

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 SubmittersRCV000013968 RCV000492516 RCV002466401

NM_000321.3(RB1):c.607+1G>T

SNV
Germline

Chr13:48349024

Pathogenic

Retinoblastoma
Condition: not provided
Hereditary cancer-predisposing syndrome
Malignant tumor of urinary bladder
Small cell lung carcinoma
Retinoblastoma
Bone osteosarcoma

Criteria Provided
Multiple Submitters
No Conflicts

CA026463

rs_587776789

8 SubmittersRCV000013969 RCV000484757 RCV000492204 RCV004795405

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 SubmittersRCV000013970 RCV002408459

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 SubmittersRCV000013972 RCV003321482

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 SubmittersRCV000034595 RCV000566730 RCV001085189 RCV002281727 RCV003153323 RCV003944881

NM_000321.3(RB1):c.628G>T (p.Asp210Tyr)

SNV
Germline

Chr13:48360037

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Retinoblastoma
Malignant tumor of urinary bladder
Small cell lung carcinoma
Retinoblastoma
Bone osteosarcoma

Criteria Provided
Conflicting Classifications

CA026464

rs_148992508

10 SubmittersRCV000034597 RCV000492290 RCV000601517 RCV001079302 RCV005394201

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 SubmittersRCV000078633 RCV000114730 RCV000492734

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 SubmittersRCV000078638 RCV000573514 RCV000810054 RCV003493436

NM_000321.3(RB1):c.1960G>A (p.Val654Met)

SNV
Germline/somatic

Chr13:48456349

Pathogenic

Condition: not provided
Retinoblastoma

Criteria Provided
Multiple Submitters
No Conflicts

CA026413

rs_483352690

3 SubmittersRCV000087166 RCV001854505

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

Criteria Provided
Multiple Submitters
No Conflicts

CA026398

rs_121913305

7 SubmittersRCV000114677 RCV000492238 RCV000521112

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 SubmittersRCV000114680 RCV004668775 RCV004943753

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 SubmittersRCV000114683 RCV000578537

NM_000321.3(RB1):c.1961-2A>T

SNV
Somatic

Chr13:48459686

Pathogenic

Retinoblastoma
Neoplasm

No Assertion Criteria Provided

CA026414

rs_587778867

2 SubmittersRCV000114684 RCV004668776

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
Somatic

Chr13:48463730

Pathogenic

Retinoblastoma

No Assertion Criteria Provided

CA026422

rs_587778860

1 SubmittersRCV000114687

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 SubmittersRCV000114688 RCV001014655

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

No Assertion Criteria Provided

CA026428

rs_587778868

1 SubmittersRCV000114690

NM_000321.3(RB1):c.2212-13T>A

SNV
Germline

Chr13:48464985

Likely pathogenic

Retinoblastoma

Criteria Provided
Multiple Submitters
No Conflicts

CA2580087662

rs_2138344431

2 SubmittersRCV000114691

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 SubmittersRCV000114697 RCV004668777 RCV004943754

NM_000321.3(RB1):c.2663+2T>C

SNV
Germline/somatic

Chr13:48476845

Pathogenic

Retinoblastoma
Condition: not provided

Criteria Provided
Single Submitter

CA026445

rs_587778839

2 SubmittersRCV000114699 RCV003237715

NM_000321.3(RB1):c.409G>T (p.Glu137Ter)

SNV
Germline

Chr13:48345108

Pathogenic

Retinoblastoma

Criteria Provided
Multiple Submitters
No Conflicts

CA026454

rs_121913296

3 SubmittersRCV000114702

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 SubmittersRCV000114704 RCV002326809

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

Chr13:48362859

Pathogenic

Retinoblastoma
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA026466

rs_587778842

10 SubmittersRCV000114712 RCV000492345 RCV000790825

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

Criteria Provided
Multiple Submitters
No Conflicts

CA026470

rs_121913300

6 SubmittersRCV000114716 RCV000492534 RCV001558107

NM_000321.3(RB1):c.1021A>T (p.Lys341Ter)

SNV
Germline

Chr13:48367575

Pathogenic

Retinoblastoma

Criteria Provided
Single Submitter

CA026357

rs_587778855

1 SubmittersRCV000114717

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 SubmittersRCV000114719 RCV000492362

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
Bone osteosarcoma
Small cell lung carcinoma
Retinoblastoma
Malignant tumor of urinary bladder
Malignant tumor of urinary bladder
Neoplasm

Criteria Provided
Multiple Submitters
No Conflicts

CA026367

rs_587776783

14 SubmittersRCV000114724 RCV000492136 RCV000763334 RCV003460796 RCV005229900

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 SubmittersRCV000114726 RCV001731377

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
Hereditary cancer-predisposing syndrome
Condition: not provided
Malignant tumor of urinary bladder
See cases

Criteria Provided
Multiple Submitters
No Conflicts

CA026373

rs_121913302

10 SubmittersRCV000114729 RCV000492246 RCV000486601 RCV003332117 RCV003156072

NM_000321.3(RB1):c.1654C>T (p.Arg552Ter)

SNV
Germline/somatic

Chr13:48381402

Pathogenic

Retinoblastoma
Hereditary cancer-predisposing syndrome
Condition: not provided
Malignant tumor of urinary bladder

Criteria Provided
Multiple Submitters
No Conflicts

CA026383

rs_121913303

7 SubmittersRCV000114733 RCV000492730 RCV004589553 RCV003332118

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 SubmittersRCV000114735 RCV003332119

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 SubmittersRCV000121902 RCV000761023 RCV001022254 RCV001036592

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 SubmittersRCV000121915 RCV000477348 RCV000569325 RCV003945101

NM_000321.3(RB1):c.1573G>A (p.Ala525Thr)

SNV
Germline

Chr13:48381321

Conflicting classifications of pathogenicity

not specified
Retinoblastoma
Ovarian cancer
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA026380

rs_587778640

7 SubmittersRCV000121919 RCV000701091 RCV003153399 RCV002399489 RCV004589589

NM_000321.3(RB1):c.1861C>A (p.Arg621Ser)

SNV
Germline

Chr13:48456250

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Retinoblastoma
RB1-related disorder

Criteria Provided
Conflicting Classifications

CA026403

rs_367578442

7 SubmittersRCV000121920 RCV000572000 RCV001570931 RCV000457901 RCV003905163

NM_000321.3(RB1):c.1862G>A (p.Arg621His)

SNV
Germline

Chr13:48456251

Conflicting classifications of pathogenicity

not specified
Retinoblastoma
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA026404

rs_373601944

5 SubmittersRCV000121922 RCV001083762 RCV001013435 RCV003441744

NM_000321.3(RB1):c.920C>T (p.Thr307Ile)

SNV
Germline

Chr13:48364952

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Retinoblastoma

Criteria Provided
Conflicting Classifications

CA026468

rs_183898408

15 SubmittersRCV000121926 RCV000492127 RCV001719890 RCV000989112

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

6 SubmittersRCV000153812 RCV000723933 RCV001483212 RCV002255133 RCV003975205

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 SubmittersRCV000175271 RCV001388989

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

3 SubmittersRCV000176258 RCV002054075 RCV003927622

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 SubmittersRCV000177038 RCV000492718 RCV001386156

NM_024675.4(PALB2):c.1337A>T (p.Asp446Val)

SNV
Germline

Chr16:23635209

Conflicting classifications of pathogenicity

Familial cancer of breast
Retinoblastoma
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Fanconi anemia complementation group N
Familial cancer of breast
Pancreatic cancer, susceptibility to, 3
PALB2-related disorder
Breast-ovarian cancer, familial, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA339587

rs_146434474

12 SubmittersRCV000200861 RCV000761148 RCV000255070 RCV000562823 RCV001194137 RCV002492922 RCV004530198 RCV005600809

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
Juvenile myelomonocytic leukemia
Neurofibromatosis, familial spinal
Neurofibromatosis, type 1
Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis

Criteria Provided
Conflicting Classifications

CA350098

rs_864622373

6 SubmittersRCV000206031 RCV000761161 RCV001753612 RCV002317736 RCV005008146

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 SubmittersRCV000232627 RCV000456021 RCV000563177 RCV000730555

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 SubmittersRCV000234228 RCV000492351

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

7 SubmittersRCV000232184 RCV001015828 RCV003417806

NM_002382.5(MAX):c.397G>A (p.Ala133Thr)

SNV
Germline

Chr14:65076562

Conflicting classifications of pathogenicity

Hereditary pheochromocytoma-paraganglioma
Hereditary cancer-predisposing syndrome
Retinoblastoma
Pheochromocytoma

Criteria Provided
Conflicting Classifications

CA7232798

rs_750459929

5 SubmittersRCV000227155 RCV000567888 RCV000761172 RCV001111565

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

4 SubmittersRCV000238879 RCV001013283

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

Criteria Provided
Conflicting Classifications

CA028530

rs_200658795

8 SubmittersRCV000242334 RCV000372212 RCV001705333 RCV002392760

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 SubmittersRCV000275303 RCV000492651 RCV004556776

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 SubmittersRCV000382603 RCV001085098 RCV002401991

NM_000321.3(RB1):c.1510C>T (p.Gln504Ter)

SNV
Germline

Chr13:48381258

Pathogenic

Condition: not provided
Retinoblastoma

Criteria Provided
Multiple Submitters
No Conflicts

CA10605288

rs_886043247

3 SubmittersRCV000387387 RCV001855163

NM_000321.3(RB1):c.2489+1G>C

SNV
Germline/somatic

Chr13:48465369

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Retinoblastoma

Criteria Provided
Multiple Submitters
No Conflicts

CA10605763

rs_764754259

4 SubmittersRCV000407067 RCV000492739 RCV004556777

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 SubmittersRCV000269222 RCV002356422

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 SubmittersRCV000342520 RCV002258873

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

3 SubmittersRCV000342053 RCV001012678

NM_000321.3(RB1):c.2003G>A (p.Arg668His)

SNV
Germline

Chr13:48459730

Conflicting classifications of pathogenicity

Retinoblastoma
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA033741

rs_551747882

5 SubmittersRCV000397474 RCV001014061 RCV004767226 RCV003441836

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

6 SubmittersRCV000306444 RCV001014403 RCV002305481 RCV003463782

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
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA035361

rs_748094394

6 SubmittersRCV000455977 RCV000459571 RCV000859119 RCV000566207

NM_000321.3(RB1):c.613G>A (p.Val205Ile)

SNV
Germline

Chr13:48360022

Conflicting classifications of pathogenicity

Retinoblastoma
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA039119

rs_770100636

2 SubmittersRCV000476876 RCV001024932

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 SubmittersRCV000466550 RCV002411502

NM_000321.3(RB1):c.1073G>A (p.Arg358Gln)

SNV
Germline

Chr13:48368550

Conflicting classifications of pathogenicity

Retinoblastoma
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA027547

rs_767011440

4 SubmittersRCV000469444 RCV003318582 RCV002418415

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 SubmittersRCV000457051 RCV002402288

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
Condition: not provided
RB1-related disorder

Criteria Provided
Conflicting Classifications

CA035443

rs_187912365

7 SubmittersRCV000467563 RCV000566527 RCV004708916 RCV003942492

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 SubmittersRCV000461996 RCV002393152

NM_000321.3(RB1):c.898A>C (p.Met300Leu)

SNV
Germline

Chr13:48364930

Conflicting classifications of pathogenicity

Retinoblastoma
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16614038

rs_1060503086

5 SubmittersRCV000471474 RCV005230406 RCV002374802

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 SubmittersRCV000471628 RCV000492335

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 SubmittersRCV000460516 RCV000565788 RCV001821287

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 SubmittersRCV000465473 RCV001013560 RCV003227760

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 SubmittersRCV000466407 RCV001013858

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

4 SubmittersRCV000463858 RCV002255412

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

Criteria Provided
Conflicting Classifications

CA036169

rs_149359120

10 SubmittersRCV000467622 RCV000492588 RCV000761059 RCV001555707 RCV001821379 RCV003925378

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

3 SubmittersRCV000470650 RCV001017708

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 SubmittersRCV000469761 RCV002356696

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

4 SubmittersRCV000466200 RCV000492148 RCV003470478

NM_000321.3(RB1):c.1389+1G>T

SNV
Germline

Chr13:48379651

Pathogenic

Retinoblastoma

Criteria Provided
Multiple Submitters
No Conflicts

CA16614310

rs_1060503087

2 SubmittersRCV000462245

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

5 SubmittersRCV000462974 RCV001011725 RCV001753905 RCV003153636

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

5 SubmittersRCV000477144 RCV001012950 RCV003463953

NM_000321.3(RB1):c.2491A>G (p.Ile831Val)

SNV
Germline

Chr13:48473361

Conflicting classifications of pathogenicity

Retinoblastoma
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA035903

rs_761068783

4 SubmittersRCV000467333 RCV001015689 RCV003479127

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

3 SubmittersRCV000456691 RCV001015371

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16619811

rs_587776789

7 SubmittersRCV000483814 RCV000492670 RCV000786882 RCV002525820

NM_000321.3(RB1):c.1268G>A (p.Gly423Glu)

SNV
Germline

Chr13:48376970

Conflicting classifications of pathogenicity

Retinoblastoma
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA028058

rs_748635133

6 SubmittersRCV000531874 RCV000480107 RCV001010666

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 SubmittersRCV000492283 RCV001856950

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 SubmittersRCV000492187 RCV004556798 RCV001591131

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 SubmittersRCV000492301 RCV000814584

NM_000321.3(RB1):c.380+1G>A

SNV
Germline/somatic

Chr13:48342715

Pathogenic

Retinoblastoma
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA388252578

rs_1131690902

3 SubmittersRCV001290126 RCV000492145

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 SubmittersRCV000492213 RCV002523986

NM_000321.3(RB1):c.644C>A (p.Ser215Ter)

SNV
Germline

Chr13:48360053

Pathogenic

Hereditary cancer-predisposing syndrome
Retinoblastoma

Criteria Provided
Multiple Submitters
No Conflicts

CA388158248

rs_768305224

2 SubmittersRCV000492073 RCV000812389

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 SubmittersRCV000492435 RCV003514369

NM_000321.3(RB1):c.718+5G>T

SNV
Germline

Chr13:48360132

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Retinoblastoma

Criteria Provided
Conflicting Classifications

CA645369535

rs_1131690848

3 SubmittersRCV000492375 RCV001070474

NM_000321.3(RB1):c.751C>T (p.Arg251Ter)

SNV
Germline/somatic

Chr13:48362847

Pathogenic

Hereditary cancer-predisposing syndrome
Retinoblastoma
Neoplasm

Criteria Provided
Multiple Submitters
No Conflicts

CA388159319

rs_1131690863

7 SubmittersRCV000492399 RCV000548468 RCV004669004

NM_000321.3(RB1):c.857A>G (p.Asp286Gly)

SNV
Germline

Chr13:48362953

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Retinoblastoma

Criteria Provided
Multiple Submitters
No Conflicts

CA388159708

rs_1131690864

3 SubmittersRCV000492155 RCV000684899

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 SubmittersRCV000492095 RCV000701287

NM_000321.3(RB1):c.1128-2A>G

SNV
Germline

Chr13:48373403

Pathogenic

Hereditary cancer-predisposing syndrome
Retinoblastoma

Criteria Provided
Multiple Submitters
No Conflicts

CA388161421

rs_1131690892

2 SubmittersRCV000492690 RCV004556797

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 SubmittersRCV000492255 RCV003403138 RCV005091032

NM_000321.3(RB1):c.1345G>A (p.Gly449Arg)

SNV
Germline

Chr13:48379606

Pathogenic/Likely pathogenic

Retinoblastoma
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA388162556

rs_1131690851

3 SubmittersRCV000698759 RCV000492212

NM_000321.3(RB1):c.1372G>T (p.Glu458Ter)

SNV
Germline

Chr13:48379633

Pathogenic

Hereditary cancer-predisposing syndrome
Retinoblastoma

Criteria Provided
Multiple Submitters
No Conflicts

CA388162615

rs_1131690884

2 SubmittersRCV000492526 RCV003514368

NM_000321.3(RB1):c.1421+1G>C

SNV
Germline

Chr13:48380085

Pathogenic/Likely pathogenic

Retinoblastoma
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA388162744

rs_1131690886

2 SubmittersRCV001382143 RCV000492392

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 SubmittersRCV000492634 RCV001042740

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 SubmittersRCV004556799 RCV000492294

NM_000321.3(RB1):c.1960+5G>C

SNV
Germline

Chr13:48456354

Pathogenic

Hereditary cancer-predisposing syndrome
Retinoblastoma

Criteria Provided
Multiple Submitters
No Conflicts

CA645369526

rs_587778871

2 SubmittersRCV000492192 RCV002523442

NM_000321.3(RB1):c.2094G>C (p.Arg698Ser)

SNV
Germline

Chr13:48459821

Conflicting classifications of pathogenicity

Retinoblastoma
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA388166951

rs_1131690891

3 SubmittersRCV001294065 RCV000492514

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 SubmittersRCV000492322 RCV001856949

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 SubmittersRCV000492539 RCV000523250 RCV003514370

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 SubmittersRCV000492748 RCV001228827

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 SubmittersRCV000492489 RCV004820851

NM_000321.3(RB1):c.2520+1G>T

SNV
Germline

Chr13:48473391

Pathogenic

Hereditary cancer-predisposing syndrome
Retinoblastoma

Criteria Provided
Multiple Submitters
No Conflicts

CA388168168

rs_587778850

2 SubmittersRCV000492732 RCV000686279

NM_000321.3(RB1):c.2520+5G>A

SNV
Germline

Chr13:48473395

Pathogenic/Likely pathogenic

Retinoblastoma
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA645369529

rs_1131690881

3 SubmittersRCV001384071 RCV000492733

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

5 SubmittersRCV000525619 RCV000568188 RCV001262454

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

6 SubmittersRCV000528113 RCV001022812 RCV001545276 RCV003905338

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

5 SubmittersRCV000545275 RCV001025836 RCV003470734 RCV004721416

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 SubmittersRCV000559948 RCV002367788 RCV003470735

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.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 SubmittersRCV000541847 RCV002395310 RCV004592554

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 SubmittersRCV000539938 RCV001015403 RCV003327413

NM_000321.3(RB1):c.269G>T (p.Gly90Val)

SNV
Germline

Chr13:48342603

Conflicting classifications of pathogenicity

Retinoblastoma
Bone osteosarcoma
Malignant tumor of urinary bladder
Small cell lung carcinoma
Retinoblastoma
Hereditary cancer-predisposing syndrome
Malignant tumor of urinary bladder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA037060

rs_554727080

5 SubmittersRCV000559096 RCV000763897 RCV002438313 RCV003470733 RCV004772957

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

4 SubmittersRCV000549050 RCV001016457 RCV002281103

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 SubmittersRCV000550618 RCV002395309

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

3 SubmittersRCV000537562 RCV001016379

NM_000321.3(RB1):c.905C>A (p.Ser302Tyr)

SNV
Germline

Chr13:48364937

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

CA388159994

rs_1208736713

5 SubmittersRCV000525153 RCV001018731 RCV005010493

NM_000321.3(RB1):c.940-1G>T

SNV
Germline

Chr13:48367493

Pathogenic

Retinoblastoma

Criteria Provided
Single Submitter

CA388160564

rs_1131690860

1 SubmittersRCV000541021

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 SubmittersRCV000541581 RCV002431548 RCV003235276

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

6 SubmittersRCV000535183 RCV001015075 RCV003459200 RCV005001076

NM_000321.3(RB1):c.2356C>T (p.Pro786Ser)

SNV
Germline

Chr13:48465235

Conflicting classifications of pathogenicity

Retinoblastoma
Medulloblastoma
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA035332

rs_754507551

5 SubmittersRCV000528489 RCV000761011 RCV001015131

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.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 SubmittersRCV000544257 RCV003470732 RCV005470450

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

5 SubmittersRCV000533722 RCV001026275 RCV004772958

NM_000321.3(RB1):c.850A>G (p.Asn284Asp)

SNV
Germline

Chr13:48362946

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

CA039582

rs_761609284

5 SubmittersRCV000541240 RCV001017932 RCV000763900

NM_000321.3(RB1):c.1333-2A>G

SNV
Germline

Chr13:48379592

Pathogenic

Retinoblastoma

Criteria Provided
Multiple Submitters
No Conflicts

CA388162526

rs_1555286503

2 SubmittersRCV000543344

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

4 SubmittersRCV000552996 RCV000563507 RCV002510914

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

5 SubmittersRCV000575829 RCV000706270 RCV001770524 RCV004569285

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 SubmittersRCV000589929 RCV004556806

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 SubmittersRCV000590064 RCV000632925

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

4 SubmittersRCV000632965 RCV002325217

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

3 SubmittersRCV000632945 RCV001010249 RCV002307568

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

3 SubmittersRCV000632943 RCV001016407 RCV004719909

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 SubmittersRCV000632939 RCV001010099

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
Malignant tumor of urinary bladder
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA388161247

rs_1270702085

4 SubmittersRCV000632962 RCV003459513 RCV002448949

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

4 SubmittersRCV000632967 RCV002358772 RCV004568383 RCV004777781

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 SubmittersRCV000632936 RCV001014744

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
Condition: not provided
RB1-related disorder

Criteria Provided
Conflicting Classifications

CA249842033

rs_896487590

4 SubmittersRCV000632948 RCV001017289 RCV003235319 RCV003420095

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

6 SubmittersRCV000632972 RCV002343228 RCV003392470 RCV003411502

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 SubmittersRCV000632958 RCV002343227

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 SubmittersRCV000632964 RCV001013423

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

4 SubmittersRCV000632953 RCV001014843 RCV003459512

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

2 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

4 SubmittersRCV000697674 RCV002386221

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 SubmittersRCV000689697 RCV005470490

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

3 SubmittersRCV000704707 RCV001014847

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 SubmittersRCV000698668 RCV002360783 RCV003460955

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 SubmittersRCV000688608 RCV002440436 RCV003117490

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

4 SubmittersRCV000699680 RCV001017125 RCV005231289

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

Criteria Provided
Multiple Submitters
No Conflicts

CA388156866

rs_1566187856

7 SubmittersRCV000702435 RCV001024025 RCV004569371 RCV004792408

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

3 SubmittersRCV000704004 RCV003380697

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 SubmittersRCV000695277 RCV005470495

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 SubmittersRCV000692624 RCV002422501 RCV003892543

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 SubmittersRCV000693421 RCV005231280

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.34A>T (p.Thr12Ser)

SNV
Germline

Chr13:48303946

Conflicting classifications of pathogenicity

Retinoblastoma
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA388250196

rs_1566174063

2 SubmittersRCV000703761 RCV001020458

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 SubmittersRCV000692163 RCV001024341

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
Retinoblastoma
Malignant tumor of urinary bladder
Bone osteosarcoma
Small cell lung carcinoma
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA039463

rs_772678500

4 SubmittersRCV000697570 RCV000763899 RCV002388279

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

6 SubmittersRCV000699465 RCV001026628 RCV003460960 RCV004768584

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

3 SubmittersRCV000686681 RCV001014347

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
Malignant tumor of urinary bladder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA388252801

rs_1319691084

5 SubmittersRCV000697025 RCV002334328 RCV004569338 RCV003238804

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 SubmittersRCV000700816 RCV002397449

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 SubmittersRCV000699895 RCV003163242

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 SubmittersRCV000697663 RCV003332236

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

3 SubmittersRCV000687998 RCV002388212

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 SubmittersRCV000722024 RCV001759441 RCV005470508

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 SubmittersRCV000722030 RCV005235476

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 SubmittersRCV000786934 RCV002397558

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 SubmittersRCV000822727 RCV005260447

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 SubmittersRCV000799491 RCV001018600 RCV003467377 RCV005231348

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
Condition: not provided
Malignant tumor of urinary bladder
Bone osteosarcoma
Small cell lung carcinoma
Retinoblastoma

Criteria Provided
Conflicting Classifications

CA388252479

rs_1593434250

6 SubmittersRCV000822166 RCV001020197 RCV004569769 RCV004800605 RCV005012375

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 SubmittersRCV000806858 RCV002264985

NM_000321.3(RB1):c.897T>A (p.Phe299Leu)

SNV
Germline

Chr13:48364929

Conflicting classifications of pathogenicity

Retinoblastoma
Hereditary cancer-predisposing syndrome
Retinoblastoma
Malignant tumor of urinary bladder
Bone osteosarcoma
Small cell lung carcinoma

Criteria Provided
Conflicting Classifications

CA039787

rs_772362181

4 SubmittersRCV000812372 RCV002370189 RCV005012354

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

5 SubmittersRCV000823567 RCV002319924 RCV003128716 RCV003467519

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 SubmittersRCV000794747 RCV002386391

NM_000321.3(RB1):c.1410T>G (p.Ile470Met)

SNV
Germline

Chr13:48380073

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Retinoblastoma
Malignant tumor of urinary bladder

Criteria Provided
Conflicting Classifications

CA249281342

rs_578226820

5 SubmittersRCV002255534 RCV000812984 RCV003461212

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 SubmittersRCV000799793 RCV002397604

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

3 SubmittersRCV000792877 RCV002397570

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

4 SubmittersRCV000804246 RCV002406789 RCV004588266

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

3 SubmittersRCV000802384 RCV004028105

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

3 SubmittersRCV000795079 RCV002458421 RCV004569532

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 SubmittersRCV000814186 RCV002433970 RCV003461220

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 SubmittersRCV000808820 RCV003344066 RCV003467429

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 SubmittersRCV000834973 RCV001481225 RCV002249535 RCV002256557

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 SubmittersRCV000866271 RCV002510994 RCV002442821

NM_000321.3(RB1):c.2393G>A (p.Arg798Gln)

SNV
Germline

Chr13:48465272

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Retinoblastoma

Criteria Provided
Conflicting Classifications

CA035464

rs_374523971

8 SubmittersRCV001015383 RCV002249562 RCV002510996 RCV000870444

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

3 SubmittersRCV000868331 RCV001015621 RCV003228999

NM_000321.3(RB1):c.608-7T>G

SNV
Germline

Chr13:48360010

Conflicting classifications of pathogenicity

Retinoblastoma

Criteria Provided
Conflicting Classifications

CA039089

rs_746360576

2 SubmittersRCV000949866

NM_000321.3(RB1):c.2714-7T>C

SNV
Germline

Chr13:48479991

Conflicting classifications of pathogenicity

Retinoblastoma
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA037347

rs_751697681

3 SubmittersRCV000973882 RCV002256637

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 SubmittersRCV000981682 RCV002354884

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 SubmittersRCV000983840 RCV002258081

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 SubmittersRCV000983803 RCV002258080

NM_000321.3(RB1):c.1216-2A>G

SNV
Unknown

Chr13:48376916

Pathogenic

Retinoblastoma

Criteria Provided
Single Submitter

CA388161922

rs_1593453973

1 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

3 SubmittersRCV001013987 RCV003514455

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

4 SubmittersRCV001020579 RCV001069942

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 SubmittersRCV001021530 RCV001035290

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

5 SubmittersRCV001024323 RCV001246900 RCV004761881

NM_000321.3(RB1):c.1240A>C (p.Ser414Arg)

SNV
Germline

Chr13:48376942

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Retinoblastoma
Malignant tumor of urinary bladder
Bone osteosarcoma
Small cell lung carcinoma
Retinoblastoma

Criteria Provided
Conflicting Classifications

CA249280048

rs_974956317

3 SubmittersRCV001010519 RCV001043640 RCV005012442

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

3 SubmittersRCV001011110 RCV001811622 RCV001788396

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

3 SubmittersRCV001011323 RCV003626657

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

4 SubmittersRCV001014746 RCV001306596 RCV003442144

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

3 SubmittersRCV001015510 RCV001295727

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 SubmittersRCV001015514 RCV001860796 RCV003461352

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

5 SubmittersRCV001016108 RCV001359224 RCV003411950 RCV004569948

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

3 SubmittersRCV001016519 RCV001233281 RCV005416440

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 SubmittersRCV001011288 RCV003514452

NM_000321.3(RB1):c.1422-4T>G

SNV
Germline

Chr13:48380161

Conflicting classifications of pathogenicity

Retinoblastoma
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA249281416

rs_201554179

3 SubmittersRCV001110584 RCV001011513

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 SubmittersRCV001015687 RCV002068917

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 SubmittersRCV001056115 RCV002327320 RCV004570214

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 SubmittersRCV001044302 RCV003160322

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 SubmittersRCV001051798 RCV002320287 RCV004570187

NM_000321.3(RB1):c.1496G>A (p.Ser499Asn)

SNV
Germline

Chr13:48380239

Conflicting classifications of pathogenicity

Retinoblastoma
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA028947

rs_774706300

5 SubmittersRCV001050300 RCV002393246 RCV002286805

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 SubmittersRCV001067783 RCV002402461 RCV004773289

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 SubmittersRCV001066595 RCV003117734 RCV004671208

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 SubmittersRCV001064630 RCV002509605

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

4 SubmittersRCV001035332 RCV002427480 RCV003461427

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 SubmittersRCV001056968 RCV001593230

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 SubmittersRCV001036639 RCV004659298

NM_000321.3(RB1):c.2326-2A>G

SNV
Germline

Chr13:48465203

Pathogenic/Likely pathogenic

Retinoblastoma
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA388167744

rs_1949432057

2 SubmittersRCV001057987 RCV004950207

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
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA029297

rs_761257231

4 SubmittersRCV001220561 RCV003163697 RCV005601714

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 SubmittersRCV001213879 RCV002256701

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 SubmittersRCV001208925 RCV004033749

NM_000321.3(RB1):c.1960+1G>T

SNV
Germline

Chr13:48456350

Pathogenic

Retinoblastoma

Criteria Provided
Multiple Submitters
No Conflicts

CA388166321

rs_1949360306

3 SubmittersRCV001206314

NM_000321.3(RB1):c.1960+2T>G

SNV
Germline

Chr13:48456351

Pathogenic

Retinoblastoma

Criteria Provided
Single Submitter

CA388166323

rs_587776780

1 SubmittersRCV001213175

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

Criteria Provided
Conflicting Classifications

CA249846378

rs_1034616967

2 SubmittersRCV001226438 RCV002339613

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 SubmittersRCV001230746 RCV003227011 RCV004033102

NM_000321.3(RB1):c.381-2A>G

SNV
Germline

Chr13:48345078

Pathogenic

Retinoblastoma

Criteria Provided
Single Submitter

CA388252584

rs_1952480014

1 SubmittersRCV001243830

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 SubmittersRCV001257128 RCV002402800

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 SubmittersRCV001290127 RCV002393689

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

Criteria Provided
Single Submitter

CA388160104

rs_2138116708

1 SubmittersRCV001523805

NM_000321.3(RB1):c.1206C>T (p.Ser402=)

SNV
Germline

Chr13:48373483

Conflicting classifications of pathogenicity

Retinoblastoma
Bone osteosarcoma
Malignant tumor of urinary bladder
Small cell lung carcinoma
Retinoblastoma
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA027808

rs_752679968

6 SubmittersRCV001523806 RCV005012722 RCV003166626

NM_000321.3(RB1):c.1333-1G>A

SNV
Germline

Chr13:48379593

Pathogenic

Hereditary cancer-predisposing syndrome
Retinoblastoma

Criteria Provided
Multiple Submitters
No Conflicts

CA388162530

rs_2138140730

4 SubmittersRCV002379981 RCV001523795

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 SubmittersRCV001523846 RCV004944961

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

Condition: not provided
not specified
Retinoblastoma
Hereditary cancer-predisposing syndrome
Malignant tumor of urinary bladder

Criteria Provided
Conflicting Classifications

CA249842006

rs_1014776340

6 SubmittersRCV002462902 RCV003120538 RCV001292913 RCV002256730 RCV003462853

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.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 SubmittersRCV001312652 RCV003166780 RCV003469537

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 SubmittersRCV001338265 RCV003169590

NM_000321.3(RB1):c.1589A>G (p.Lys530Arg)

SNV
Germline

Chr13:48381337

Pathogenic/Likely pathogenic

Retinoblastoma

Criteria Provided
Multiple Submitters
No Conflicts

CA388163655

rs_1948534047

2 SubmittersRCV001340617

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

3 SubmittersRCV001349024 RCV002447426

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 SubmittersRCV001346737 RCV002431977

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 SubmittersRCV001339753 RCV002431949

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

Criteria Provided
Single Submitter

CA388250543

rs_2138034131

1 SubmittersRCV001389644

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 SubmittersRCV001380999 RCV004671380

NM_000321.3(RB1):c.1332G>A (p.Gln444=)

SNV
Germline

Chr13:48377034

Pathogenic

Retinoblastoma
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA483559134

rs_1555286250

3 SubmittersRCV001383900 RCV004774442

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 SubmittersRCV001387462 RCV003120595

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

3 SubmittersRCV001384072 RCV002456599

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.2211+2T>C

SNV
Germline

Chr13:48463837

Pathogenic/Likely pathogenic

Retinoblastoma
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA388167243

rs_2138342748

5 SubmittersRCV001533519 RCV002511095 RCV004656624

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.861+1G>T

SNV
Germline

Chr13:48362958

Pathogenic

Condition: not provided
Retinoblastoma

Criteria Provided
Multiple Submitters
No Conflicts

CA388159725

rs_2138112893

2 SubmittersRCV001806855 RCV005095189

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 SubmittersRCV001809313 RCV002343870

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 SubmittersRCV001959630 RCV005264130

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 SubmittersRCV001959657 RCV004656791

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

Criteria Provided
Single Submitter

CA388250525

rs_2138034088

1 SubmittersRCV001938303

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 SubmittersRCV001950933 RCV003332367

NM_000321.3(RB1):c.381T>C (p.Ser127=)

SNV
Germline

Chr13:48345080

Conflicting classifications of pathogenicity

Retinoblastoma
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA038058

rs_780321508

3 SubmittersRCV002018267 RCV004947047 RCV004694137

NM_000321.3(RB1):c.2211+5G>A

SNV
Germline

Chr13:48463840

Pathogenic

Retinoblastoma

Criteria Provided
Multiple Submitters
No Conflicts

CA2573149615

rs_1593538236

2 SubmittersRCV001953851

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 SubmittersRCV002002440 RCV003325592

NM_000321.3(RB1):c.2211+1G>A

SNV
Germline

Chr13:48463836

Pathogenic

Retinoblastoma
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA388167240

rs_1949420231

3 SubmittersRCV002037927 RCV004656781

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 SubmittersRCV001954350 RCV004044474

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 SubmittersRCV002013928 RCV002425412

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 SubmittersRCV002034922 RCV003163999 RCV004774473 RCV004571125

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

2 SubmittersRCV001899006 RCV002370492

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 SubmittersRCV001959117 RCV002352655

NM_000321.3(RB1):c.1128-1G>A

SNV
Germline/somatic

Chr13:48373404

Pathogenic

Retinoblastoma
Condition: not provided
Neoplasm

Criteria Provided
Multiple Submitters
No Conflicts

CA388161425

rs_2138130852

3 SubmittersRCV002044891 RCV002466706 RCV004671457

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 SubmittersRCV001930960 RCV004043624

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 SubmittersRCV001962427 RCV003303450

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 SubmittersRCV002027081 RCV002256892 RCV003154233

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

2 SubmittersRCV002027161 RCV002331637

NM_000321.3(RB1):c.452T>A (p.Leu151Gln)

SNV
Germline

Chr13:48345151

Conflicting classifications of pathogenicity

Retinoblastoma
Malignant tumor of urinary bladder
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA388252753

rs_2138087581

4 SubmittersRCV002215491 RCV004572034 RCV002337243

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 SubmittersRCV002091475 RCV002259161

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 SubmittersRCV002103556 RCV002258379

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 SubmittersRCV002226075 RCV003093889

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 SubmittersRCV002255898 RCV003094216

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 SubmittersRCV002255900 RCV003626697

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

Criteria Provided
Multiple Submitters
No Conflicts

CA388157676

rs_2138359672

2 SubmittersRCV002272670

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

Retinoblastoma
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA2575413292

rs_2138087127

2 SubmittersRCV003626715 RCV002355273

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 SubmittersRCV002344894 RCV004556852

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 SubmittersRCV002371407 RCV003514571

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 SubmittersRCV002383517 RCV003138241

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 SubmittersRCV002389341 RCV004556856

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 SubmittersRCV002410304 RCV004556859

NM_000321.3(RB1):c.1389+1G>A

SNV
Germline

Chr13:48379651

Pathogenic

Hereditary cancer-predisposing syndrome
Retinoblastoma

Criteria Provided
Multiple Submitters
No Conflicts

CA388162656

rs_1060503087

2 SubmittersRCV002396599 RCV004556855

NM_000321.3(RB1):c.1050-5T>C

SNV
Germline

Chr13:48368522

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Retinoblastoma

Criteria Provided
Conflicting Classifications

CA2580087574

rs_2542189673

2 SubmittersRCV002401280 RCV003626764

NM_000321.3(RB1):c.17C>T (p.Pro6Leu)

SNV
Germline

Chr13:48303929

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Malignant tumor of urinary bladder
Retinoblastoma

Criteria Provided
Conflicting Classifications

CA032568

rs_755482658

3 SubmittersRCV002407875 RCV004572441 RCV003626773

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 SubmittersRCV002383678 RCV004556853

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 SubmittersRCV002381134 RCV004556854

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 SubmittersRCV002421744 RCV003097392

NM_000321.3(RB1):c.2042G>A (p.Trp681Ter)

SNV
Germline

Chr13:48459769

Pathogenic

Hereditary cancer-predisposing syndrome
Retinoblastoma

Criteria Provided
Multiple Submitters
No Conflicts

CA388166827

rs_2138336207

2 SubmittersRCV002419958 RCV003101027

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 SubmittersRCV002430898 RCV003514584

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 SubmittersRCV002430728 RCV003101843

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 SubmittersRCV002452742 RCV002473385 RCV003514585

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 SubmittersRCV002424072 RCV003098609

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 SubmittersRCV002459712 RCV003126253 RCV003775231

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 SubmittersRCV002466773 RCV003514591

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 SubmittersRCV003062586 RCV004070143

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

2 SubmittersRCV002603226 RCV004068936

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 SubmittersRCV002620192 RCV005264371

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 SubmittersRCV002608616 RCV004656942

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 SubmittersRCV002811691 RCV004948795

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 SubmittersRCV002886337 RCV004774755 RCV004673732

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

2 SubmittersRCV002975733 RCV004068282

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 SubmittersRCV003027945 RCV004673777

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 SubmittersRCV004009548 RCV004137165

NM_000321.3(RB1):c.501-2A>G

SNV
Germline

Chr13:48347823

Conflicting classifications of pathogenicity

Condition: not provided
Retinoblastoma
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA388156770

rs_2138091518

3 SubmittersRCV003123180 RCV003626809 RCV003294636

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 SubmittersRCV003154518 RCV004556864

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 SubmittersRCV003154718 RCV003626813 RCV004661626

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 SubmittersRCV003323149 RCV004556870

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 SubmittersRCV003471813 RCV003626873

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

3 SubmittersRCV003463481 RCV005264419 RCV004808489

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 SubmittersRCV003515399 RCV004780569

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

Criteria Provided
Multiple Submitters
No Conflicts

CA2622980714

rs_2138131373

2 SubmittersRCV003516351

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.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

Retinoblastoma

Criteria Provided
Single Submitter

CA955793850

rs_80122842

1 SubmittersRCV003627703

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 SubmittersRCV003627459 RCV004775488

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

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 SubmittersRCV004013333 RCV005264545

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 SubmittersRCV004557025 RCV004674019

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_2138123114

2 SubmittersRCV004557028 RCV004701913

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

Criteria Provided
Single Submitter

rs_2138136154

1 SubmittersRCV004557040

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
Single Submitter

rs_4151534

1 SubmittersRCV004557046

NM_000321.3(RB1):c.1331A>T (p.Gln444Leu)

SNV
Germline

Chr13:48377033

Likely pathogenic

Retinoblastoma

Criteria Provided
Single Submitter

rs_2138136810

1 SubmittersRCV004557050

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

Criteria Provided
Single Submitter

rs_1555279228

1 SubmittersRCV004557099

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

Criteria Provided
Single Submitter

rs_2138331657

1 SubmittersRCV004557118

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 SubmittersRCV004557123 RCV005475541

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

Criteria Provided
Single Submitter

rs_764754259

1 SubmittersRCV004557178

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

Pathogenic

Retinoblastoma

Criteria Provided
Single Submitter

rs_2542100494

1 SubmittersRCV004557194

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 SubmittersRCV004557213 RCV005475542

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

2 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 SubmittersRCV004557224 RCV005402142

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 SubmittersRCV004557226 RCV004943306

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 SubmittersRCV004660672 RCV005103400

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 SubmittersRCV004660690 RCV005103402

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.1421+1G>A

SNV
Germline

Chr13:48380085

Pathogenic

Retinoblastoma
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005179740 RCV005435520

NC_000013.11:g.48303717A>G

SNV
Germline

Chr13:48303717

Pathogenic

Retinoblastoma

Criteria Provided
Single Submitter

1 SubmittersRCV005192455

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

Chr13:48381448

Likely pathogenic

Retinoblastoma

Criteria Provided
Single Submitter

1 SubmittersRCV005199078

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

Likely pathogenic

Retinoblastoma

Criteria Provided
Single Submitter

1 SubmittersRCV005358538

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.460A>T (p.Lys154Ter)

SNV
Germline

Chr13:48345159

Pathogenic

Small cell lung carcinoma
Retinoblastoma
Bone osteosarcoma
Malignant tumor of urinary bladder

Criteria Provided
Single Submitter

1 SubmittersRCV005393664