RB1[gene] AND (clinsig_pathogenic[prop] OR clinsig_likely_pathogenic[p - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 10668971.	NC_000013.10:g.48877849_48877856del GRCh37: Chr13:48877849-48877856 GRCh38: Chr13:48303713-48303720	RB1		Retinoblastoma	Likely pathogenic (Aug 31, 2021)	criteria provided, single submitter
Select item 130862.	NM_000321.2(RB1):c.-198G>A GRCh37: Chr13:48877851 GRCh38: Chr13:48303715	RB1		Hereditary cancer-predisposing syndrome, Retinoblastoma	Pathogenic (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 130853.	NM_000321.2(RB1):c.-189G>T GRCh37: Chr13:48877860 GRCh38: Chr13:48303724	RB1		Retinoblastoma	Pathogenic (Sep 5, 1991)	no assertion criteria provided
Select item 6458834.	NC_000013.11:g.(?_48303903)_(48307416_?)del GRCh37: Chr13:48878039-48881552 GRCh38: Chr13:48303903-48307416	RB1		Retinoblastoma	Pathogenic (Aug 11, 2018)	criteria provided, single submitter
Select item 4287115.	NM_000321.3(RB1):c.9_42dup (p.Ala15fs) GRCh37: Chr13:48878050-48878051 GRCh38: Chr13:48303914-48303915	RB1	A15fs	Hereditary cancer-predisposing syndrome	Pathogenic (Apr 1, 2015)	criteria provided, single submitter
Select item 4286706.	NM_000321.3(RB1):c.19dup (p.Arg7fs) GRCh37: Chr13:48878061-48878062 GRCh38: Chr13:48303925-48303926	RB1	R7fs	Hereditary cancer-predisposing syndrome, Retinoblastoma	Pathogenic (Aug 31, 2021)	criteria provided, multiple submitters, no conflicts
Select item 10732177.	NM_000321.3(RB1):c.19del (p.Arg7fs) GRCh37: Chr13:48878062 GRCh38: Chr13:48303926	RB1	R7fs	Retinoblastoma	Pathogenic (Jan 26, 2022)	criteria provided, single submitter
Select item 4286638.	NM_000321.2(RB1):c.19_21delinsGG (p.Arg7fs) GRCh37: Chr13:48878067-48878069 GRCh38: Chr13:48303931-48303933	RB1		Hereditary cancer-predisposing syndrome	Pathogenic (Feb 8, 2013)	criteria provided, single submitter
Select item 13971199.	NM_000321.3(RB1):c.34_71del (p.Thr12fs) GRCh37: Chr13:48878077-48878114 GRCh38: Chr13:48303941-48303978	RB1	T12fs	Retinoblastoma	Pathogenic (Mar 24, 2021)	criteria provided, single submitter
Select item 80296310.	NM_000321.3(RB1):c.32_63del (p.Ala11fs) GRCh37: Chr13:48878077-48878108 GRCh38: Chr13:48303941-48303972	RB1	A11fs	Retinoblastoma	Likely pathogenic (May 28, 2019)	criteria provided, single submitter
Select item 65936111.	NM_000321.3(RB1):c.45_76del (p.Ala17fs) GRCh37: Chr13:48878081-48878112 GRCh38: Chr13:48303945-48303976	RB1	A17fs	Retinoblastoma	Pathogenic (May 30, 2022)	criteria provided, single submitter
Select item 145392412.	NM_000321.3(RB1):c.45_79del (p.Ala16fs) GRCh37: Chr13:48878083-48878117 GRCh38: Chr13:48303947-48303981	RB1	A16fs	not provided, Retinoblastoma	Pathogenic (Jul 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 107033013.	NM_000321.3(RB1):c.43_80del (p.Ala15fs) GRCh37: Chr13:48878083-48878120 GRCh38: Chr13:48303947-48303984	RB1	A15fs	Retinoblastoma	Pathogenic (Aug 31, 2021)	criteria provided, single submitter
Select item 58094514.	NM_000321.3(RB1):c.36del (p.Ala13fs) GRCh37: Chr13:48878083 GRCh38: Chr13:48303947	RB1	A13fs	Retinoblastoma	Pathogenic (May 30, 2018)	criteria provided, single submitter
Select item 41095115.	NM_000321.3(RB1):c.37_65del (p.Ala13fs) GRCh37: Chr13:48878084-48878112 GRCh38: Chr13:48303948-48303976	RB1	A13fs	Retinoblastoma	Pathogenic (May 25, 2018)	criteria provided, single submitter
Select item 56759116.	NM_000321.3(RB1):c.45_70dup (p.Pro24fs) GRCh37: Chr13:48878088-48878089 GRCh38: Chr13:48303952-48303953	RB1	P24fs	Retinoblastoma	Pathogenic (Sep 29, 2021)	criteria provided, single submitter
Select item 1309517.	NM_000321.3(RB1):c.43_65dup (p.Pro23fs) GRCh37: Chr13:48878089-48878090 GRCh38: Chr13:48303953-48303954	RB1	P23fs	Retinoblastoma	Pathogenic (Feb 1, 2007)	no assertion criteria provided
Select item 174731118.	NM_000321.3(RB1):c.54_79dup (p.Pro27fs) GRCh37: Chr13:48878093-48878094 GRCh38: Chr13:48303957-48303958	RB1	P27fs	Hereditary cancer-predisposing syndrome	Pathogenic (Jun 23, 2017)	criteria provided, single submitter
Select item 107399719.	NM_000321.3(RB1):c.46_61GCC[2]GCGGAACCCCAGGCACCGCCGCCGCCGCCGCCGCGGAACCCC[1] (p.Pro21fs) GRCh37: Chr13:48878093-48878094 GRCh38: Chr13:48303957-48303958	RB1	P21fs	Retinoblastoma	Pathogenic (Aug 25, 2018)	criteria provided, single submitter
Select item 42866820.	NM_000321.3(RB1):c.54_76dup (p.Pro26fs) GRCh37: Chr13:48878093-48878094 GRCh38: Chr13:48303957-48303958	RB1	P26fs	Hereditary cancer-predisposing syndrome, Retinoblastoma	Pathogenic (Mar 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 45817121.	NM_000321.3(RB1):c.54_73dup (p.Pro25fs) GRCh37: Chr13:48878094-48878095 GRCh38: Chr13:48303958-48303959	RB1	P25fs	Retinoblastoma	Pathogenic (Aug 24, 2021)	criteria provided, single submitter
Select item 16756422.	NM_000321.3(RB1):c.54_79del (p.Glu19fs) GRCh37: Chr13:48878094-48878119 GRCh38: Chr13:48303958-48303983	RB1	E19fs	not provided, Hereditary cancer-predisposing syndrome	Pathogenic (Mar 24, 2020)	criteria provided, multiple submitters, no conflicts
Select item 174856523.	NM_000321.3(RB1):c.55G>T (p.Glu19Ter) GRCh37: Chr13:48878103 GRCh38: Chr13:48303967	RB1	E19*	Hereditary cancer-predisposing syndrome	Pathogenic (Sep 15, 2016)	criteria provided, single submitter
Select item 107321824.	NM_000321.3(RB1):c.62dup (p.Ala22fs) GRCh37: Chr13:48878105-48878106 GRCh38: Chr13:48303969-48303970	RB1	A22fs	Retinoblastoma	Pathogenic (Sep 1, 2021)	criteria provided, single submitter
Select item 95824425.	NM_000321.3(RB1):c.59_71del (p.Pro20fs) GRCh37: Chr13:48878106-48878118 GRCh38: Chr13:48303970-48303982	RB1	P20fs	Retinoblastoma	Pathogenic (Aug 31, 2021)	criteria provided, single submitter
Select item 58056426.	NM_000321.3(RB1):c.83del (p.Pro28fs) GRCh37: Chr13:48878127 GRCh38: Chr13:48303991	RB1	P28fs	Retinoblastoma	Pathogenic (Oct 18, 2022)	criteria provided, single submitter
Select item 59084527.	NM_000321.3(RB1):c.92dup (p.Asp32fs) GRCh37: Chr13:48878139-48878140 GRCh38: Chr13:48304003-48304004	RB1	D32fs	Retinoblastoma	Pathogenic (Aug 5, 2016)	criteria provided, single submitter
Select item 84521628.	NM_000321.3(RB1):c.98dup (p.Glu34fs) GRCh37: Chr13:48878143-48878144 GRCh38: Chr13:48304007-48304008	RB1	E34fs	Retinoblastoma	Pathogenic (Aug 13, 2021)	criteria provided, single submitter
Select item 107296129.	NM_000321.3(RB1):c.100G>T (p.Glu34Ter) GRCh37: Chr13:48878148 GRCh38: Chr13:48304012	RB1	E34*	Retinoblastoma	Pathogenic (Aug 12, 2021)	criteria provided, single submitter
Select item 12681830.	NM_000321.3(RB1):c.103C>T (p.Gln35Ter) GRCh37: Chr13:48878151 GRCh38: Chr13:48304015	RB1	Q35*	Retinoblastoma	Pathogenic (Aug 30, 2021)	criteria provided, single submitter
Select item 42874131.	NM_000321.3(RB1):c.106del (p.Asp36fs) GRCh37: Chr13:48878153 GRCh38: Chr13:48304017	RB1	D36fs	Hereditary cancer-predisposing syndrome	Pathogenic (Dec 12, 2016)	criteria provided, single submitter
Select item 12681932.	NM_000321.3(RB1):c.113_115delinsCT (p.Gly38fs) GRCh37: Chr13:48878161-48878163 GRCh38: Chr13:48304025-48304027	RB1	G38fs	Retinoblastoma	Pathogenic (Sep 16, 2013)	no assertion criteria provided
Select item 81854633.	NM_000321.3(RB1):c.118del (p.Glu40fs) GRCh37: Chr13:48878165 GRCh38: Chr13:48304029	RB1	E40fs	Hereditary cancer-predisposing syndrome	Pathogenic (May 22, 2018)	criteria provided, single submitter
Select item 145429734.	NM_000321.3(RB1):c.118G>T (p.Glu40Ter) GRCh37: Chr13:48878166 GRCh38: Chr13:48304030	RB1	E40*	Retinoblastoma	Pathogenic (Aug 13, 2021)	criteria provided, single submitter
Select item 176906635.	NM_000321.3(RB1):c.128dup (p.Leu44fs) GRCh37: Chr13:48878174-48878175 GRCh38: Chr13:48304038-48304039	RB1	L44fs	Hereditary cancer-predisposing syndrome	Pathogenic (May 14, 2021)	criteria provided, single submitter
Select item 199963436.	NM_000321.3(RB1):c.131_132del (p.Leu44fs) GRCh37: Chr13:48878176-48878177 GRCh38: Chr13:48304040-48304041	RB1	L44fs	Retinoblastoma	Pathogenic (May 27, 2022)	criteria provided, single submitter
Select item 177125637.	NM_000321.3(RB1):c.137G>A (p.Arg46Lys) GRCh37: Chr13:48878185 GRCh38: Chr13:48304049	RB1	R46K	Hereditary cancer-predisposing syndrome	Pathogenic (May 16, 2017)	criteria provided, single submitter
Select item 144827638.	NM_000321.3(RB1):c.137+1G>A GRCh37: Chr13:48878186 GRCh38: Chr13:48304050	RB1		Retinoblastoma	Pathogenic (Aug 16, 2021)	criteria provided, single submitter
Select item 42867339.	NM_000321.3(RB1):c.137+1G>T GRCh37: Chr13:48878186 GRCh38: Chr13:48304050	RB1		Hereditary cancer-predisposing syndrome	Pathogenic (Jan 30, 2013)	criteria provided, single submitter
Select item 65467940.	NC_000013.11:g.(?_48307270)_(48349033_?)del GRCh37: Chr13:48881406-48923169 GRCh38: Chr13:48307270-48349033	RB1		Retinoblastoma	Pathogenic (Oct 16, 2018)	criteria provided, single submitter
Select item 45811141.	NC_000013.11:g.(?_48307274)_(48349029_?)del GRCh37: Chr13:48881410-48923165 GRCh38: Chr13:48307274-48349029	RB1		Retinoblastoma	Pathogenic (Mar 9, 2017)	criteria provided, single submitter
Select item 81906442.	NM_000321.3(RB1):c.138-1G>A GRCh37: Chr13:48881415 GRCh38: Chr13:48307279	RB1		Hereditary cancer-predisposing syndrome	Likely pathogenic (Sep 27, 2019)	criteria provided, single submitter
Select item 212125943.	NM_000321.3(RB1):c.142G>T (p.Glu48Ter) GRCh37: Chr13:48881420 GRCh38: Chr13:48307284	RB1	E48*	Retinoblastoma	Pathogenic (Apr 4, 2022)	criteria provided, single submitter
Select item 170814644.	NM_000321.3(RB1):c.160G>T (p.Glu54Ter) GRCh37: Chr13:48881438 GRCh38: Chr13:48307302	RB1	E54*	Retinoblastoma	Pathogenic (Feb 10, 2022)	criteria provided, single submitter
Select item 177722645.	NM_000321.3(RB1):c.164del (p.Pro55fs) GRCh37: Chr13:48881441 GRCh38: Chr13:48307305	RB1	P55fs	Hereditary cancer-predisposing syndrome	Pathogenic (Mar 22, 2018)	criteria provided, single submitter
Select item 118502046.	NM_000321.3(RB1):c.174dup (p.Ala59fs) GRCh37: Chr13:48881451-48881452 GRCh38: Chr13:48307315-48307316	RB1	A59fs	Retinoblastoma	Pathogenic (Jun 8, 2021)	criteria provided, single submitter
Select item 141734747.	NM_000321.3(RB1):c.184C>T (p.Gln62Ter) GRCh37: Chr13:48881462 GRCh38: Chr13:48307326	RB1	Q62*	Retinoblastoma	Pathogenic (Sep 1, 2021)	criteria provided, single submitter
Select item 107593348.	NM_000321.3(RB1):c.191T>G (p.Leu64Ter) GRCh37: Chr13:48881469 GRCh38: Chr13:48307333	RB1	L64*	Retinoblastoma	Pathogenic (Aug 28, 2021)	criteria provided, single submitter
Select item 12684449.	NM_000321.3(RB1):c.219_220del (p.Arg73fs) GRCh37: Chr13:48881489-48881490 GRCh38: Chr13:48307353-48307354	RB1	R73fs	Retinoblastoma, Hereditary cancer-predisposing syndrome	Pathogenic (Aug 27, 2021)	criteria provided, multiple submitters, no conflicts
Select item 12684350.	NM_000321.3(RB1):c.217del (p.Arg73fs) GRCh37: Chr13:48881495 GRCh38: Chr13:48307359	RB1	R73fs	Retinoblastoma	Pathogenic (Sep 16, 2013)	no assertion criteria provided
Select item 202218351.	NM_000321.3(RB1):c.220del (p.Ala74fs) GRCh37: Chr13:48881498 GRCh38: Chr13:48307362	RB1	A74fs	Retinoblastoma	Pathogenic (Aug 9, 2022)	criteria provided, single submitter
Select item 12684552.	NM_000321.3(RB1):c.227_228dup (p.Thr77Ter) GRCh37: Chr13:48881504-48881505 GRCh38: Chr13:48307368-48307369	RB1	T77*	Retinoblastoma	Pathogenic (Sep 16, 2013)	no assertion criteria provided
Select item 135958253.	NM_000321.3(RB1):c.229_232del (p.Thr77fs) GRCh37: Chr13:48881507-48881510 GRCh38: Chr13:48307371-48307374	RB1	T77fs	Retinoblastoma	Pathogenic (May 3, 2021)	criteria provided, single submitter
Select item 145601554.	NM_000321.3(RB1):c.234G>A (p.Trp78Ter) GRCh37: Chr13:48881512 GRCh38: Chr13:48307376	RB1	W78*	Retinoblastoma	Pathogenic (Sep 16, 2021)	criteria provided, single submitter
Select item 202509955.	NM_000321.3(RB1):c.240del (p.Val81fs) GRCh37: Chr13:48881516 GRCh38: Chr13:48307380	RB1	V81fs	Retinoblastoma	Pathogenic (Aug 20, 2022)	criteria provided, single submitter
Select item 83771056.	NM_000321.3(RB1):c.245C>A (p.Ser82Ter) GRCh37: Chr13:48881523 GRCh38: Chr13:48307387	RB1	S82*	Retinoblastoma	Pathogenic (Aug 24, 2021)	criteria provided, single submitter
Select item 107321957.	NM_000321.3(RB1):c.264+1G>T GRCh37: Chr13:48881543 GRCh38: Chr13:48307407	RB1		Retinoblastoma	Pathogenic (Sep 1, 2021)	criteria provided, single submitter
Select item 42873458.	NM_000321.3(RB1):c.264+1G>A GRCh37: Chr13:48881543 GRCh38: Chr13:48307407	RB1		Retinoblastoma, Hereditary cancer-predisposing syndrome	Pathogenic (Oct 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 100464659.	NM_000321.3(RB1):c.264+5G>A GRCh37: Chr13:48881547 GRCh38: Chr13:48307411	RB1		Retinoblastoma	Likely pathogenic (Dec 15, 2021)	criteria provided, multiple submitters, no conflicts
Select item 45811260.	NC_000013.10:g.(?_48916729)_(48942746_?)dup GRCh37: Chr13:48916729-48942746 GRCh38: Chr13:48342593-48368610	RB1		Retinoblastoma	Pathogenic (Aug 4, 2021)	criteria provided, single submitter
Select item 41754061.	NC_000013.11:g.(?_48342599)_(48345199_?)del GRCh37: Chr13:48916735-48919335 GRCh38: Chr13:48342599-48345199	RB1		Retinoblastoma	Pathogenic (Nov 28, 2016)	criteria provided, single submitter
Select item 65912262.	NM_000321.3(RB1):c.272_276del (p.Tyr91fs) GRCh37: Chr13:48916740-48916744 GRCh38: Chr13:48342604-48342608	RB1	Y91fs	Retinoblastoma	Pathogenic (Jul 24, 2018)	criteria provided, single submitter
Select item 63543163.	NM_000321.3(RB1):c.273T>A (p.Tyr91Ter) GRCh37: Chr13:48916743 GRCh38: Chr13:48342607	RB1	Y91*	Lynch syndrome 4	Likely pathogenic (Sep 27, 2018)	no assertion criteria provided
Select item 42874664.	NM_000321.3(RB1):c.277C>T (p.Gln93Ter) GRCh37: Chr13:48916747 GRCh38: Chr13:48342611	RB1	Q93*	Hereditary cancer-predisposing syndrome	Pathogenic (Jun 9, 2015)	criteria provided, single submitter
Select item 42868065.	NM_000321.3(RB1):c.281dup (p.Lys95fs) GRCh37: Chr13:48916747-48916748 GRCh38: Chr13:48342611-48342612	RB1	K95fs	Hereditary cancer-predisposing syndrome	Pathogenic (Jul 10, 2013)	criteria provided, single submitter
Select item 203479066.	NM_000321.3(RB1):c.287dup (p.Glu97fs) GRCh37: Chr13:48916752-48916753 GRCh38: Chr13:48342616-48342617	RB1	E97fs	Retinoblastoma	Pathogenic (Oct 8, 2022)	criteria provided, single submitter
Select item 119757767.	NM_000321.3(RB1):c.287del (p.Lys96fs) GRCh37: Chr13:48916753 GRCh38: Chr13:48342617	RB1	K96fs	not provided	Pathogenic (Feb 20, 2020)	criteria provided, single submitter
Select item 52790668.	NM_000321.3(RB1):c.283A>T (p.Lys95Ter) GRCh37: Chr13:48916753 GRCh38: Chr13:48342617	RB1	K95*	Retinoblastoma	Pathogenic (Aug 26, 2021)	criteria provided, single submitter
Select item 93550569.	NM_000321.3(RB1):c.295_296dup (p.Trp99fs) GRCh37: Chr13:48916762-48916763 GRCh38: Chr13:48342626-48342627	RB1	W99fs	Retinoblastoma	Pathogenic (Jul 15, 2019)	criteria provided, single submitter
Select item 58026270.	NM_000321.3(RB1):c.297_298insA (p.Gly100fs) GRCh37: Chr13:48916767-48916768 GRCh38: Chr13:48342631-48342632	RB1	G100fs	Retinoblastoma	Pathogenic (Apr 24, 2018)	criteria provided, single submitter
Select item 19625171.	NM_000321.3(RB1):c.297G>A (p.Trp99Ter) GRCh37: Chr13:48916767 GRCh38: Chr13:48342631	RB1	W99*	Hereditary cancer-predisposing syndrome, not provided, Retinoblastoma	Pathogenic (Jun 16, 2021)	criteria provided, multiple submitters, no conflicts
Select item 12680972.	NM_000321.3(RB1):c.305_306del (p.Cys102fs) GRCh37: Chr13:48916774-48916775 GRCh38: Chr13:48342638-48342639	RB1	C102fs	Retinoblastoma	Pathogenic (Oct 21, 2021)	criteria provided, single submitter
Select item 96574073.	NM_000321.3(RB1):c.309_312del (p.Phe104fs) GRCh37: Chr13:48916778-48916781 GRCh38: Chr13:48342642-48342645	RB1	F104fs	Retinoblastoma	Pathogenic (Nov 5, 2019)	criteria provided, single submitter
Select item 42190674.	NM_000321.3(RB1):c.335_339del (p.Glu112fs) GRCh37: Chr13:48916800-48916804 GRCh38: Chr13:48342664-48342668	RB1	E112fs	not provided	Likely pathogenic (Aug 11, 2016)	criteria provided, single submitter
Select item 173050975.	NM_000321.3(RB1):c.334G>T (p.Glu112Ter) GRCh37: Chr13:48916804 GRCh38: Chr13:48342668	RB1	E112*	Hereditary cancer-predisposing syndrome	Pathogenic (Aug 12, 2021)	criteria provided, single submitter
Select item 59084676.	NM_000321.3(RB1):c.371_372del (p.Ile124fs) GRCh37: Chr13:48916840-48916841 GRCh38: Chr13:48342704-48342705	RB1	I124fs	Retinoblastoma, Hereditary cancer-predisposing syndrome	Pathogenic (Aug 28, 2019)	criteria provided, multiple submitters, no conflicts
Select item 133409877.	NM_000321.3(RB1):c.373G>T (p.Glu125Ter) GRCh37: Chr13:48916843 GRCh38: Chr13:48342707	RB1	E125*	Hereditary cancer-predisposing syndrome, Retinoblastoma	Pathogenic/Likely pathogenic (Feb 12, 2021)	criteria provided, multiple submitters, no conflicts
Select item 28225178.	NM_000321.3(RB1):c.376del (p.Ile126fs) GRCh37: Chr13:48916844 GRCh38: Chr13:48342708	RB1	I126fs	not provided, Retinoblastoma	Pathogenic (Aug 31, 2021)	criteria provided, multiple submitters, no conflicts
Select item 107618979.	NM_000321.3(RB1):c.377del (p.Ile126fs) GRCh37: Chr13:48916847 GRCh38: Chr13:48342711	RB1	I126fs	Hereditary cancer-predisposing syndrome, Retinoblastoma	Pathogenic (Mar 16, 2020)	criteria provided, multiple submitters, no conflicts
Select item 95869280.	NM_000321.3(RB1):c.380G>T (p.Ser127Ile) GRCh37: Chr13:48916850 GRCh38: Chr13:48342714	RB1	S127I	Retinoblastoma	Likely pathogenic (Aug 13, 2021)	criteria provided, single submitter
Select item 42873081.	NM_000321.3(RB1):c.380G>A (p.Ser127Asn) GRCh37: Chr13:48916850 GRCh38: Chr13:48342714	RB1	S127N	Hereditary cancer-predisposing syndrome, not provided	Likely pathogenic (Mar 2, 2020)	criteria provided, multiple submitters, no conflicts
Select item 42866182.	NM_000321.3(RB1):c.380G>C (p.Ser127Thr) GRCh37: Chr13:48916850 GRCh38: Chr13:48342714	RB1	S127T	Hereditary cancer-predisposing syndrome, Retinoblastoma	Likely pathogenic (Dec 11, 2021)	criteria provided, multiple submitters, no conflicts
Select item 42872783.	NM_000321.3(RB1):c.380+1G>A GRCh37: Chr13:48916851 GRCh38: Chr13:48342715	RB1		Retinoblastoma, Hereditary cancer-predisposing syndrome	Pathogenic (Apr 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 243109484.	NM_000321.3(RB1):c.380+2T>C GRCh37: Chr13:48916852 GRCh38: Chr13:48342716	RB1		Lung adenocarcinoma	Pathogenic (Jun 6, 2022)	criteria provided, single submitter
Select item 52790485.	NM_000321.3(RB1):c.380+3A>T GRCh37: Chr13:48916853 GRCh38: Chr13:48342717	RB1		Retinoblastoma	Pathogenic (Jan 3, 2018)	criteria provided, single submitter
Select item 65737586.	NC_000013.11:g.(?_48345070)_(48345209_?)del GRCh37: Chr13:48919206-48919345 GRCh38: Chr13:48345070-48345209	RB1		Retinoblastoma	Pathogenic (Aug 12, 2021)	criteria provided, single submitter
Select item 58394987.	NC_000013.11:g.(?_48345074)_(48345205_?)del GRCh37: Chr13:48919210-48919341 GRCh38: Chr13:48345074-48345205	RB1		Retinoblastoma	Pathogenic (Jan 8, 2019)	criteria provided, single submitter
Select item 173526488.	NM_000321.2(RB1):c.382_383dupGT GRCh37: Chr13:48919214-48919215 GRCh38: Chr13:48345078-48345079	RB1		Hereditary cancer-predisposing syndrome	Pathogenic (Jan 24, 2020)	criteria provided, single submitter
Select item 168542189.	NM_000321.3(RB1):c.381-2A>T GRCh37: Chr13:48919214 GRCh38: Chr13:48345078	RB1		Malignant tumor of urinary bladder	Likely pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 96864490.	NM_000321.3(RB1):c.381-2A>G GRCh37: Chr13:48919214 GRCh38: Chr13:48345078	RB1		Retinoblastoma	Pathogenic (Sep 2, 2021)	criteria provided, single submitter
Select item 107322091.	NM_000321.3(RB1):c.390del (p.Lys130fs) GRCh37: Chr13:48919223 GRCh38: Chr13:48345087	RB1	K130fs	Retinoblastoma	Pathogenic (Aug 26, 2021)	criteria provided, single submitter
Select item 56996892.	NM_000321.3(RB1):c.388A>T (p.Lys130Ter) GRCh37: Chr13:48919223 GRCh38: Chr13:48345087	RB1	K130*	Retinoblastoma	Pathogenic (Apr 9, 2018)	criteria provided, single submitter
Select item 28612493.	NM_000321.3(RB1):c.396del (p.Phe132fs) GRCh37: Chr13:48919229 GRCh38: Chr13:48345093	RB1	F132fs	not provided	Pathogenic (Jan 27, 2016)	criteria provided, single submitter
Select item 107104894.	NM_000321.3(RB1):c.399del (p.Leu134fs) GRCh37: Chr13:48919234 GRCh38: Chr13:48345098	RB1	L134fs	Retinoblastoma	Pathogenic (Aug 31, 2021)	criteria provided, single submitter
Select item 12681095.	NM_000321.3(RB1):c.409G>T (p.Glu137Ter) GRCh37: Chr13:48919244 GRCh38: Chr13:48345108	RB1	E137*	Retinoblastoma	Pathogenic (Sep 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 145480296.	NM_000321.3(RB1):c.417del (p.Asp139fs) GRCh37: Chr13:48919252 GRCh38: Chr13:48345116	RB1	D139fs	Retinoblastoma	Pathogenic (Aug 20, 2021)	criteria provided, single submitter
Select item 213159397.	NM_000321.3(RB1):c.428_437del (p.Lys143fs) GRCh37: Chr13:48919262-48919271 GRCh38: Chr13:48345126-48345135	RB1	K143fs	Retinoblastoma	Pathogenic (Apr 28, 2022)	criteria provided, single submitter
Select item 42874098.	NM_000321.3(RB1):c.434del (p.Asp145fs) GRCh37: Chr13:48919269 GRCh38: Chr13:48345133	RB1	D145fs	Hereditary cancer-predisposing syndrome	Pathogenic (Dec 9, 2016)	criteria provided, single submitter
Select item 12681199.	NM_000321.3(RB1):c.438_441del (p.Asn146fs) GRCh37: Chr13:48919273-48919276 GRCh38: Chr13:48345137-48345140	RB1	N146fs	Retinoblastoma	Pathogenic (Sep 16, 2013)	no assertion criteria provided
Select item 428685100.	NM_000321.3(RB1):c.443del (p.Met148fs) GRCh37: Chr13:48919278 GRCh38: Chr13:48345142	RB1	M148fs	Hereditary cancer-predisposing syndrome	Pathogenic (Apr 17, 2015)	criteria provided, single submitter

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