ClinVar for MedGen (Select 815563) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24303781.	NM_006912.6(RIT1):c.292A>T (p.Ile98Phe) GRCh37: Chr1:155874239 GRCh38: Chr1:155904448	RIT1	I115F, I62F, I98F	Noonan syndrome 8	Uncertain significance (Feb 27, 2023)	criteria provided, single submitter
Select item 24278412.	NM_006912.6(RIT1):c.237+18G>A GRCh37: Chr1:155874504 GRCh38: Chr1:155904713	RIT1		Noonan syndrome 8	Likely benign (Apr 12, 2022)	criteria provided, single submitter
Select item 24256593.	NC_000001.10:g.(?_155870179)_(155880552_?)dup GRCh37: Chr1:155870179-155880552	RIT1		Noonan syndrome 8	Uncertain significance (Oct 18, 2022)	criteria provided, single submitter
Select item 24256584.	NC_000001.10:g.(?_155877093)_(155880300_?)del GRCh37: Chr1:155877093-155880300	RIT1		Noonan syndrome 8	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 24256575.	NC_000001.10:g.(?_155581953)_(155880552_?)del GRCh37: Chr1:155581953-155880552	YY1AP1, MSTO1, RIT1, GON4L, DAP3, SYT11		not provided, Noonan syndrome 8	Conflicting interpretations of pathogenicity (Jun 16, 2022)	criteria provided, conflicting interpretations
Select item 24210856.	NM_006912.6(RIT1):c.261C>T (p.Asp87=) GRCh37: Chr1:155874270 GRCh38: Chr1:155904479	RIT1		Noonan syndrome 8	Likely benign (Dec 31, 2021)	criteria provided, single submitter
Select item 24189867.	NM_006912.6(RIT1):c.93T>C (p.Gly31=) GRCh37: Chr1:155880460 GRCh38: Chr1:155910669	RIT1		Noonan syndrome 8	Likely benign (Jul 4, 2022)	criteria provided, single submitter
Select item 21987628.	NM_006912.6(RIT1):c.598A>C (p.Lys200Gln) GRCh37: Chr1:155870241 GRCh38: Chr1:155900450	RIT1	K164Q, K200Q, K217Q	Noonan syndrome 8	Uncertain significance (Jul 12, 2022)	criteria provided, single submitter
Select item 21941639.	NM_006912.6(RIT1):c.107-12C>T GRCh37: Chr1:155880309 GRCh38: Chr1:155910518	RIT1		Noonan syndrome 8	Likely benign (Jun 18, 2022)	criteria provided, single submitter
Select item 219179810.	NM_006912.6(RIT1):c.256C>T (p.Arg86Trp) GRCh37: Chr1:155874275 GRCh38: Chr1:155904484	RIT1	R50W, R86W, R103W	Noonan syndrome 8	Uncertain significance (Mar 14, 2022)	criteria provided, single submitter
Select item 218569111.	NM_006912.6(RIT1):c.650C>G (p.Ser217Ter) GRCh37: Chr1:155870189 GRCh38: Chr1:155900398	RIT1	S181, S217, S234*	Noonan syndrome 8	Uncertain significance (Jun 21, 2022)	criteria provided, single submitter
Select item 217711512.	NM_006912.6(RIT1):c.133C>G (p.Arg45Gly) GRCh37: Chr1:155880271 GRCh38: Chr1:155910480	RIT1	R62G, R45G, R9G	Noonan syndrome 8	Uncertain significance (Aug 18, 2022)	criteria provided, single submitter
Select item 217669113.	NM_006912.6(RIT1):c.566C>T (p.Ala189Val) GRCh37: Chr1:155870273 GRCh38: Chr1:155900482	RIT1	A189V, A153V, A206V	Noonan syndrome 8	Uncertain significance (Mar 16, 2022)	criteria provided, single submitter
Select item 216771914.	NM_006912.6(RIT1):c.550A>G (p.Arg184Gly) GRCh37: Chr1:155870289 GRCh38: Chr1:155900498	RIT1	R148G, R184G, R201G	Noonan syndrome 8	Uncertain significance (Apr 25, 2022)	criteria provided, single submitter
Select item 216088515.	NM_006912.6(RIT1):c.338A>T (p.Glu113Val) GRCh37: Chr1:155874193 GRCh38: Chr1:155904402	RIT1	E77V, E113V, E130V	Noonan syndrome 8	Uncertain significance (May 4, 2022)	criteria provided, single submitter
Select item 216014216.	NM_006912.6(RIT1):c.429+15G>A GRCh37: Chr1:155874087 GRCh38: Chr1:155904296	RIT1		Noonan syndrome 8	Likely benign (Jul 14, 2022)	criteria provided, single submitter
Select item 215625917.	NM_006912.6(RIT1):c.503G>A (p.Arg168His) GRCh37: Chr1:155870336 GRCh38: Chr1:155900545	RIT1	R185H, R132H, R168H	Noonan syndrome 8	Uncertain significance (Jun 28, 2022)	criteria provided, single submitter
Select item 214598618.	NM_006912.6(RIT1):c.430-16C>T GRCh37: Chr1:155870425 GRCh38: Chr1:155900634	RIT1		Noonan syndrome 8	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 212833619.	NM_006912.6(RIT1):c.572T>A (p.Leu191Gln) GRCh37: Chr1:155870267 GRCh38: Chr1:155900476	RIT1	L208Q, L155Q, L191Q	Noonan syndrome 8	Uncertain significance (Jul 23, 2022)	criteria provided, single submitter
Select item 212616520.	NM_006912.6(RIT1):c.163+12C>T GRCh37: Chr1:155880229 GRCh38: Chr1:155910438	RIT1		Noonan syndrome 8	Likely benign (Jun 30, 2022)	criteria provided, single submitter
Select item 212322521.	NM_006912.6(RIT1):c.429+9A>G GRCh37: Chr1:155874093 GRCh38: Chr1:155904302	RIT1		Noonan syndrome 8	Likely benign (Apr 8, 2022)	criteria provided, single submitter
Select item 211940422.	NM_006912.6(RIT1):c.387G>A (p.Val129=) GRCh37: Chr1:155874144 GRCh38: Chr1:155904353	RIT1		Noonan syndrome 8	Likely benign (Mar 29, 2022)	criteria provided, single submitter
Select item 208634423.	NM_006912.6(RIT1):c.164-5T>C GRCh37: Chr1:155874600 GRCh38: Chr1:155904809	RIT1		Noonan syndrome 8	Likely benign (Sep 25, 2022)	criteria provided, single submitter
Select item 207706824.	NM_006912.6(RIT1):c.374A>G (p.Asp125Gly) GRCh37: Chr1:155874157 GRCh38: Chr1:155904366	RIT1	D125G, D89G, D142G	Inborn genetic diseases, Noonan syndrome 8	Uncertain significance (Jun 6, 2023)	criteria provided, multiple submitters, no conflicts
Select item 207473625.	NM_006912.6(RIT1):c.335G>A (p.Arg112His) GRCh37: Chr1:155874196 GRCh38: Chr1:155904405	RIT1	R112H, R76H, R129H	Noonan syndrome 8, Inborn genetic diseases	Uncertain significance (Jul 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 206494226.	NM_006912.6(RIT1):c.163+16A>C GRCh37: Chr1:155880225 GRCh38: Chr1:155910434	RIT1		Noonan syndrome 8	Likely benign (Dec 29, 2021)	criteria provided, single submitter
Select item 206011927.	NM_006912.6(RIT1):c.310G>A (p.Asp104Asn) GRCh37: Chr1:155874221 GRCh38: Chr1:155904430	RIT1	D104N, D68N, D121N	Noonan syndrome 8	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 206011328.	NM_006912.6(RIT1):c.413T>G (p.Leu138Arg) GRCh37: Chr1:155874118 GRCh38: Chr1:155904327	RIT1	L155R, L102R, L138R	Noonan syndrome 8	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 205751729.	NM_006912.6(RIT1):c.617G>C (p.Arg206Thr) GRCh37: Chr1:155870222 GRCh38: Chr1:155900431	RIT1	R223T, R170T, R206T	Noonan syndrome 8	Uncertain significance (Oct 9, 2022)	criteria provided, single submitter
Select item 202732530.	NM_006912.6(RIT1):c.163+17C>G GRCh37: Chr1:155880224 GRCh38: Chr1:155910433	RIT1		Noonan syndrome 8	Likely benign (Aug 27, 2022)	criteria provided, single submitter
Select item 202009931.	NM_006912.6(RIT1):c.430-18C>A GRCh37: Chr1:155870427 GRCh38: Chr1:155900636	RIT1		Noonan syndrome 8	Likely benign (Jul 29, 2022)	criteria provided, single submitter
Select item 201317332.	NM_006912.6(RIT1):c.401A>G (p.Asn134Ser) GRCh37: Chr1:155874130 GRCh38: Chr1:155904339	RIT1	N98S, N151S, N134S	Noonan syndrome 8	Uncertain significance (Jul 2, 2022)	criteria provided, single submitter
Select item 201005033.	NM_006912.6(RIT1):c.212_213del (p.Leu71fs) GRCh37: Chr1:155874546-155874547 GRCh38: Chr1:155904755-155904756	RIT1	L35fs, L88fs, L71fs	Noonan syndrome 8	Uncertain significance (Jun 24, 2022)	criteria provided, single submitter
Select item 199892034.	NM_006912.6(RIT1):c.351T>C (p.Leu117=) GRCh37: Chr1:155874180 GRCh38: Chr1:155904389	RIT1		Noonan syndrome 8	Likely benign (May 25, 2022)	criteria provided, single submitter
Select item 197966035.	NM_006912.6(RIT1):c.258G>A (p.Arg86=) GRCh37: Chr1:155874273 GRCh38: Chr1:155904482	RIT1		Noonan syndrome 8	Likely benign (Aug 5, 2022)	criteria provided, single submitter
Select item 197668336.	NM_006912.6(RIT1):c.379A>G (p.Thr127Ala) GRCh37: Chr1:155874152 GRCh38: Chr1:155904361	RIT1	T91A, T144A, T127A	Noonan syndrome 8	Uncertain significance (Apr 20, 2022)	criteria provided, single submitter
Select item 197286037.	NM_006912.6(RIT1):c.618G>C (p.Arg206Ser) GRCh37: Chr1:155870221 GRCh38: Chr1:155900430	RIT1	R206S, R170S, R223S	Noonan syndrome 8	Uncertain significance (Mar 8, 2022)	criteria provided, single submitter
Select item 196453838.	NM_006912.6(RIT1):c.570A>G (p.Val190=) GRCh37: Chr1:155870269 GRCh38: Chr1:155900478	RIT1		Noonan syndrome 8	Likely benign (Aug 7, 2022)	criteria provided, single submitter
Select item 195977539.	NM_006912.6(RIT1):c.146A>T (p.Asp49Val) GRCh37: Chr1:155880258 GRCh38: Chr1:155910467	RIT1	D49V, D13V, D66V	Noonan syndrome 8	Uncertain significance (May 30, 2022)	criteria provided, single submitter
Select item 195843040.	NM_006912.6(RIT1):c.607G>A (p.Val203Ile) GRCh37: Chr1:155870232 GRCh38: Chr1:155900441	RIT1	V167I, V203I, V220I	Noonan syndrome 8	Uncertain significance (Apr 11, 2022)	criteria provided, single submitter
Select item 192057241.	NM_006912.6(RIT1):c.430-18C>T GRCh37: Chr1:155870427 GRCh38: Chr1:155900636	RIT1		Noonan syndrome 8	Likely benign (Oct 20, 2022)	criteria provided, single submitter
Select item 191925142.	NM_006912.6(RIT1):c.340T>C (p.Phe114Leu) GRCh37: Chr1:155874191 GRCh38: Chr1:155904400	RIT1	F114L, F131L, F78L	Noonan syndrome 8	Uncertain significance (Sep 3, 2022)	criteria provided, single submitter
Select item 190719443.	NM_006912.6(RIT1):c.489A>G (p.Thr163=) GRCh37: Chr1:155870350 GRCh38: Chr1:155900559	RIT1		Noonan syndrome 8	Likely benign (Sep 1, 2022)	criteria provided, single submitter
Select item 190374644.	NM_006912.6(RIT1):c.17G>C (p.Arg6Pro) GRCh37: Chr1:155880536 GRCh38: Chr1:155910745	RIT1	R23P, R6P	Noonan syndrome 8	Uncertain significance (May 21, 2022)	criteria provided, single submitter
Select item 189844545.	NM_006912.6(RIT1):c.531C>A (p.Ala177=) GRCh37: Chr1:155870308 GRCh38: Chr1:155900517	RIT1		Noonan syndrome 8	Likely benign (Jul 29, 2022)	criteria provided, single submitter
Select item 180478446.	NM_006912.6(RIT1):c.381A>G (p.Thr127=) GRCh37: Chr1:155874150 GRCh38: Chr1:155904359	RIT1		Noonan syndrome 8, not specified	Likely benign (Nov 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 177680347.	NM_006912.6(RIT1):c.162T>A (p.Ile54=) GRCh37: Chr1:155880242 GRCh38: Chr1:155910451	RIT1		Cardiovascular phenotype, Noonan syndrome 8	Conflicting interpretations of pathogenicity (Mar 25, 2022)	criteria provided, conflicting interpretations
Select item 175154948.	NM_006912.6(RIT1):c.609A>G (p.Val203=) GRCh37: Chr1:155870230 GRCh38: Chr1:155900439	RIT1		Noonan syndrome 8, Cardiovascular phenotype	Likely benign (May 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 175115849.	NM_006912.6(RIT1):c.602A>G (p.Asn201Ser) GRCh37: Chr1:155870237 GRCh38: Chr1:155900446	RIT1	N218S, N201S, N165S	Noonan syndrome 8, Cardiovascular phenotype	Conflicting interpretations of pathogenicity (Jun 6, 2022)	criteria provided, conflicting interpretations
Select item 174991550.	NM_006912.6(RIT1):c.120G>A (p.Gln40=) GRCh37: Chr1:155880284 GRCh38: Chr1:155910493	RIT1		Cardiovascular phenotype, Noonan syndrome 8	Likely benign (Jun 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 174706051.	NM_006912.6(RIT1):c.535G>A (p.Val179Ile) GRCh37: Chr1:155870304 GRCh38: Chr1:155900513	RIT1	V143I, V179I, V196I	Noonan syndrome 8, Cardiovascular phenotype	Uncertain significance (Oct 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 174044952.	NM_006912.6(RIT1):c.441A>G (p.Glu147=) GRCh37: Chr1:155870398 GRCh38: Chr1:155900607	RIT1		Cardiovascular phenotype, Noonan syndrome 8	Likely benign (Sep 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 173304953.	NM_006912.6(RIT1):c.359G>A (p.Arg120Gln) GRCh37: Chr1:155874172 GRCh38: Chr1:155904381	RIT1	R120Q, R137Q, R84Q	Cardiovascular phenotype, Noonan syndrome 8	Uncertain significance (Jun 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 172326154.	NM_006912.6(RIT1):c.264G>A (p.Gln88=) GRCh37: Chr1:155874267 GRCh38: Chr1:155904476	RIT1		not specified, Noonan syndrome 8	Likely benign (Oct 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 172020455.	NM_006912.6(RIT1):c.587A>C (p.Lys196Thr) GRCh37: Chr1:155870252 GRCh38: Chr1:155900461	RIT1	K160T, K196T, K213T	Noonan syndrome 8	Uncertain significance (Sep 23, 2022)	criteria provided, single submitter
Select item 171600856.	NM_006912.6(RIT1):c.559A>C (p.Lys187Gln) GRCh37: Chr1:155870280 GRCh38: Chr1:155900489	RIT1	K151Q, K187Q, K204Q	Cardiovascular phenotype, Noonan syndrome 8	Uncertain significance (Feb 16, 2023)	criteria provided, multiple submitters, no conflicts
Select item 170455857.	NM_006912.6(RIT1):c.532C>G (p.Leu178Val) GRCh37: Chr1:155870307 GRCh38: Chr1:155900516	RIT1	L178V, L142V, L195V	not specified, Cardiovascular phenotype, Noonan syndrome 8	Uncertain significance (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 169589158.	NM_006912.6(RIT1):c.67A>G (p.Lys23Glu) GRCh37: Chr1:155880486 GRCh38: Chr1:155910695	RIT1	K23E, K40E	Noonan syndrome 8	Pathogenic	criteria provided, single submitter
Select item 167500059.	NM_006912.6(RIT1):c.99G>A (p.Gly33=) GRCh37: Chr1:155880454 GRCh38: Chr1:155910663	RIT1		Noonan syndrome 8, Cardiovascular phenotype	Likely benign (May 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 167401560.	NM_006912.6(RIT1):c.516T>C (p.Asp172=) GRCh37: Chr1:155870323 GRCh38: Chr1:155900532	RIT1		Cardiovascular phenotype, Noonan syndrome 8	Likely benign (May 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 164246561.	NM_006912.6(RIT1):c.381A>C (p.Thr127=) GRCh37: Chr1:155874150 GRCh38: Chr1:155904359	RIT1		Cardiovascular phenotype, Noonan syndrome 8	Likely benign (Jun 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 161568762.	NM_006912.6(RIT1):c.164-11C>T GRCh37: Chr1:155874606 GRCh38: Chr1:155904815	RIT1		Noonan syndrome 8	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 159197763.	NM_006912.6(RIT1):c.429+20T>C GRCh37: Chr1:155874082 GRCh38: Chr1:155904291	RIT1		Noonan syndrome 8	Likely benign (Jan 6, 2022)	criteria provided, single submitter
Select item 158852864.	NM_006912.6(RIT1):c.72A>G (p.Leu24=) GRCh37: Chr1:155880481 GRCh38: Chr1:155910690	RIT1		Noonan syndrome 8	Likely benign (Apr 12, 2022)	criteria provided, single submitter
Select item 158712065.	NM_006912.6(RIT1):c.423A>G (p.Leu141=) GRCh37: Chr1:155874108 GRCh38: Chr1:155904317	RIT1		Cardiovascular phenotype, Noonan syndrome 8	Likely benign (Oct 29, 2021)	criteria provided, multiple submitters, no conflicts
Select item 157985966.	NM_006912.6(RIT1):c.238-19G>A GRCh37: Chr1:155874312 GRCh38: Chr1:155904521	RIT1		Noonan syndrome 8	Likely benign (May 21, 2022)	criteria provided, single submitter
Select item 157382967.	NM_006912.6(RIT1):c.552G>A (p.Arg184=) GRCh37: Chr1:155870287 GRCh38: Chr1:155900496	RIT1		Noonan syndrome 8	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 157151368.	NM_006912.6(RIT1):c.163+12C>A GRCh37: Chr1:155880229 GRCh38: Chr1:155910438	RIT1		Noonan syndrome 8	Likely benign (Apr 1, 2022)	criteria provided, single submitter
Select item 157053469.	NM_006912.6(RIT1):c.237+14G>C GRCh37: Chr1:155874508 GRCh38: Chr1:155904717	RIT1		Noonan syndrome 8	Likely benign (Feb 21, 2021)	criteria provided, single submitter
Select item 156727270.	NM_006912.6(RIT1):c.238-16C>T GRCh37: Chr1:155874309 GRCh38: Chr1:155904518	RIT1		Noonan syndrome 8	Likely benign (Sep 10, 2021)	criteria provided, single submitter
Select item 155105771.	NM_006912.6(RIT1):c.291C>A (p.Ile97=) GRCh37: Chr1:155874240 GRCh38: Chr1:155904449	RIT1		Cardiovascular phenotype, Noonan syndrome 8	Likely benign (Jul 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 154559172.	NM_006912.6(RIT1):c.564G>A (p.Glu188=) GRCh37: Chr1:155870275 GRCh38: Chr1:155900484	RIT1		Noonan syndrome 8	Likely benign (Apr 6, 2021)	criteria provided, single submitter
Select item 153633973.	NM_006912.6(RIT1):c.492T>C (p.Ser164=) GRCh37: Chr1:155870347 GRCh38: Chr1:155900556	RIT1		Noonan syndrome 8	Likely benign (Aug 14, 2021)	criteria provided, single submitter
Select item 152264674.	NM_006912.6(RIT1):c.500A>G (p.Tyr167Cys) GRCh37: Chr1:155870339 GRCh38: Chr1:155900548	RIT1	Y167C, Y131C, Y184C	Noonan syndrome 8, Cardiovascular phenotype	Uncertain significance (May 4, 2023)	criteria provided, multiple submitters, no conflicts
Select item 152238875.	NM_006912.6(RIT1):c.7T>G (p.Ser3Ala) GRCh37: Chr1:155880546 GRCh38: Chr1:155910755	RIT1	S3A, S20A	Noonan syndrome 8	Uncertain significance (Aug 14, 2021)	criteria provided, single submitter
Select item 146267276.	NM_006912.6(RIT1):c.326A>G (p.His109Arg) GRCh37: Chr1:155874205 GRCh38: Chr1:155904414	RIT1	H73R, H109R, H126R	Noonan syndrome 8, Cardiovascular phenotype	Uncertain significance (Apr 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 146168677.	NM_006912.6(RIT1):c.510T>C (p.Tyr170=) GRCh37: Chr1:155870329 GRCh38: Chr1:155900538	RIT1		Cardiovascular phenotype, Noonan syndrome 8	Likely benign (Dec 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 144769878.	NM_006912.6(RIT1):c.238-2dup GRCh37: Chr1:155874294-155874295 GRCh38: Chr1:155904503-155904504	RIT1		Noonan syndrome 8	Uncertain significance (Apr 10, 2021)	criteria provided, single submitter
Select item 144110879.	NM_006912.6(RIT1):c.10G>C (p.Gly4Arg) GRCh37: Chr1:155880543 GRCh38: Chr1:155910752	RIT1	G4R, G21R	Noonan syndrome 8	Uncertain significance (Jul 12, 2022)	criteria provided, single submitter
Select item 137184080.	NM_006912.6(RIT1):c.4G>A (p.Asp2Asn) GRCh37: Chr1:155880549 GRCh38: Chr1:155910758	RIT1	D2N, D19N	Noonan syndrome 8	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 136461581.	NM_006912.6(RIT1):c.35G>A (p.Cys12Tyr) GRCh37: Chr1:155880518 GRCh38: Chr1:155910727	RIT1	C12Y, C29Y	Noonan syndrome 8	Uncertain significance (Aug 2, 2022)	criteria provided, single submitter
Select item 136243882.	NM_006912.6(RIT1):c.11G>A (p.Gly4Glu) GRCh37: Chr1:155880542 GRCh38: Chr1:155910751	RIT1	G4E, G21E	Noonan syndrome 8	Uncertain significance (Sep 24, 2021)	criteria provided, multiple submitters, no conflicts
Select item 135741783.	NM_006912.6(RIT1):c.548G>A (p.Arg183His) GRCh37: Chr1:155870291 GRCh38: Chr1:155900500	RIT1	R183H, R200H, R147H	Noonan syndrome 8	Uncertain significance (Nov 11, 2021)	criteria provided, single submitter
Select item 135444184.	NM_006912.6(RIT1):c.646G>A (p.Asp216Asn) GRCh37: Chr1:155870193 GRCh38: Chr1:155900402	RIT1	D233N, D180N, D216N	Cardiovascular phenotype, Noonan syndrome 8	Uncertain significance (Sep 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 135368585.	NM_006912.6(RIT1):c.645del (p.Asp216fs) GRCh37: Chr1:155870194 GRCh38: Chr1:155900403	RIT1	D180fs, D233fs, D216fs	Noonan syndrome 8	Uncertain significance (Oct 30, 2022)	criteria provided, single submitter
Select item 133427786.	NM_006912.6(RIT1):c.145G>C (p.Asp49His) GRCh37: Chr1:155880259 GRCh38: Chr1:155910468	RIT1	D13H, D49H, D66H	Noonan syndrome and Noonan-related syndrome, Noonan syndrome 8	Uncertain significance (Sep 24, 2021)	criteria provided, multiple submitters, no conflicts
Select item 133427587.	NM_006912.6(RIT1):c.341T>A (p.Phe114Tyr) GRCh37: Chr1:155874190 GRCh38: Chr1:155904399	RIT1	F114Y, F131Y, F78Y	Noonan syndrome and Noonan-related syndrome, Noonan syndrome 8, Cardiovascular phenotype	Uncertain significance (Aug 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 133427388.	NM_006912.6(RIT1):c.635G>A (p.Arg212Gln) GRCh37: Chr1:155870204 GRCh38: Chr1:155900413	RIT1	R176Q, R212Q, R229Q	Noonan syndrome and Noonan-related syndrome, Noonan syndrome 8, Cardiovascular phenotype	Uncertain significance (Jul 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 133328689.	NM_006912.6(RIT1):c.116T>C (p.Met39Thr) GRCh37: Chr1:155880288 GRCh38: Chr1:155910497	RIT1	M39T, M3T, M56T	Inborn genetic diseases, Noonan syndrome 8	Uncertain significance (Mar 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 132731490.	NM_006912.6(RIT1):c.326A>T (p.His109Leu) GRCh37: Chr1:155874205 GRCh38: Chr1:155904414	RIT1	H109L, H126L, H73L	Noonan syndrome 8, not provided	Uncertain significance (Feb 28, 2023)	criteria provided, multiple submitters, no conflicts
Select item 131491691.	NM_006912.6(RIT1):c.208A>T (p.Asn70Tyr) GRCh37: Chr1:155874551 GRCh38: Chr1:155904760	RIT1	N34Y, N70Y, N87Y	Noonan syndrome 8, not provided	Uncertain significance (May 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 129956292.	NM_006912.6(RIT1):c.116T>G (p.Met39Arg) GRCh37: Chr1:155880288 GRCh38: Chr1:155910497	RIT1	M39R, M3R, M56R	Noonan syndrome 8	Likely pathogenic (Aug 10, 2021)	criteria provided, single submitter
Select item 121368793.	NM_006912.6(RIT1):c.163+6C>A GRCh37: Chr1:155880235 GRCh38: Chr1:155910444	RIT1		Noonan syndrome 8	Uncertain significance (Feb 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 120310294.	NM_006912.6(RIT1):c.309G>A (p.Thr103=) GRCh37: Chr1:155874222 GRCh38: Chr1:155904431	RIT1		not provided, Noonan syndrome 8	Conflicting interpretations of pathogenicity (Jul 17, 2022)	criteria provided, conflicting interpretations
Select item 114172895.	NM_006912.6(RIT1):c.603C>T (p.Asn201=) GRCh37: Chr1:155870236 GRCh38: Chr1:155900445	RIT1		Noonan syndrome 8	Likely benign (Jun 19, 2019)	criteria provided, single submitter
Select item 112422496.	NM_006912.6(RIT1):c.321T>C (p.Ser107=) GRCh37: Chr1:155874210 GRCh38: Chr1:155904419	RIT1		Noonan syndrome 8	Likely benign (Oct 5, 2020)	criteria provided, single submitter
Select item 109497097.	NM_006912.6(RIT1):c.498A>C (p.Ala166=) GRCh37: Chr1:155870341 GRCh38: Chr1:155900550	RIT1		Cardiovascular phenotype, not provided, Noonan syndrome 8	Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 106382598.	NM_006912.6(RIT1):c.116T>A (p.Met39Lys) GRCh37: Chr1:155880288 GRCh38: Chr1:155910497	RIT1	M39K, M3K, M56K	Noonan syndrome 8	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 105392799.	NM_006912.6(RIT1):c.113C>G (p.Thr38Ser) GRCh37: Chr1:155880291 GRCh38: Chr1:155910500	RIT1	T2S, T38S, T55S	Noonan syndrome 8, not specified	Conflicting interpretations of pathogenicity (Nov 24, 2021)	criteria provided, conflicting interpretations
Select item 1040782100.	NC_000001.10:g.(?_155874092)_(155880686_?)dup GRCh37: Chr1:155874092-155880686	RIT1		Noonan syndrome 8	Uncertain significance (Aug 30, 2020)	criteria provided, single submitter

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