Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_003073.5(SMARCB1):c.34C>T (p.Gln12Ter)	SNV Germline	Chr22:23787203	Pathogenic	SMARCB1-related schwannomatosis Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA119228	rs_74315513	3 SubmittersRCV000008490 RCV003278655 RCV003555975
NM_003073.5(SMARCB1):c.544C>T (p.Gln182Ter)	SNV Somatic	Chr22:23803338	Pathogenic	Schwannomatosis 1, somatic	No Assertion Criteria Provided	CA119231	rs_121434496	1 SubmittersRCV000008491
NM_003073.5(SMARCB1):c.92A>T (p.Glu31Val)	SNV Germline	Chr22:23787261	Conflicting classifications of pathogenicity	SMARCB1-related schwannomatosis Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA119236	rs_267607072	4 SubmittersRCV000008496 RCV003231093 RCV004948133
NM_006767.4(LZTR1):c.264-13G>A	SNV Germline	Chr22:20985828	Conflicting classifications of pathogenicity	LZTR1-related schwannomatosis Hereditary cancer-predisposing syndrome Cardiovascular phenotype Noonan syndrome 2 Noonan syndrome 10 LZTR1-related schwannomatosis Schwannomatosis Noonan syndrome 2 Condition: not provided Developmental disorder	Criteria Provided Conflicting Classifications	CA150700	rs_587777176	14 SubmittersRCV000087292 RCV002426650 RCV002498472 RCV004700409 RCV004786368 RCV001291541 RCV003126498
NM_006767.4(LZTR1):c.365C>T (p.Ser122Leu)	SNV Germline	Chr22:20987548	Conflicting classifications of pathogenicity	LZTR1-related schwannomatosis Condition: not provided Cardiovascular phenotype Hereditary cancer-predisposing syndrome Schwannomatosis LZTR1-related disorder Noonan syndrome 10	Criteria Provided Conflicting Classifications	CA150701	rs_587777177	10 SubmittersRCV000087293 RCV001200448 RCV002453416 RCV003315228 RCV004529907 RCV004786369
NM_006767.4(LZTR1):c.2062C>T (p.Arg688Cys)	SNV Germline	Chr22:20995865	Conflicting classifications of pathogenicity	LZTR1-related schwannomatosis Condition: not provided LZTR1-related disorder Cardiovascular phenotype Hereditary cancer-predisposing syndrome Diffuse midline glioma, H3 K27-altered Schwannomatosis LZTR1-related schwannomatosis Noonan syndrome 10 Noonan syndrome 2	Criteria Provided Conflicting Classifications	CA150702	rs_587777178	11 SubmittersRCV000087294 RCV001055087 RCV004529908 RCV002415585 RCV004776273 RCV005237537 RCV005025171
NM_006767.4(LZTR1):c.1397G>A (p.Arg466Gln)	SNV Germline	Chr22:20993967	Pathogenic/Likely pathogenic	LZTR1-related schwannomatosis Schwannomatosis Noonan syndrome and Noonan-related syndrome Cardiovascular phenotype Hereditary cancer-predisposing syndrome Condition: not provided LZTR1-related schwannomatosis Noonan syndrome 10 Noonan syndrome 2 Noonan syndrome 2	Criteria Provided Multiple Submitters No Conflicts	CA150704	rs_587777180	11 SubmittersRCV000087296 RCV001260384 RCV001813376 RCV002390252 RCV001312780 RCV005031596 RCV004815183
NM_003073.5(SMARCB1):c.1A>G (p.Met1Val)	SNV Germline	Chr22:23787170	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Condition: not provided Rhabdoid tumor predisposition syndrome 1 SMARCB1-related schwannomatosis SMARCB1-related schwannomatosis Intellectual disability, autosomal dominant 15 Rhabdoid tumor predisposition syndrome 1	Criteria Provided Conflicting Classifications	CA162159	rs_367768260	7 SubmittersRCV000122071 RCV000563927 RCV000456257 RCV001150088 RCV001150089 RCV005394436
NM_006767.4(LZTR1):c.742G>A (p.Gly248Arg)	SNV Germline	Chr22:20990476	Likely pathogenic	Noonan syndrome 10 Condition: not provided Noonan syndrome 10 LZTR1-related schwannomatosis Fetal cystic hygroma Hereditary cancer-predisposing syndrome Cardiovascular phenotype RASopathy Noonan syndrome 1 LZTR1-related schwannomatosis LZTR1-related disorder Noonan syndrome	Reviewed By Expert Panel	CA358852	rs_869320686	27 SubmittersRCV000191027 RCV000413889 RCV000763072 RCV001526613 RCV002381647 RCV004576927 RCV004698786 RCV003988835 RCV004734846 RCV005625421
NM_006767.4(LZTR1):c.850C>T (p.Arg284Cys)	SNV Germline	Chr22:20991686	Likely pathogenic	Noonan syndrome 10 Condition: not provided LZTR1-related schwannomatosis Noonan syndrome 10 Hereditary cancer-predisposing syndrome Cardiovascular phenotype LZTR1-related disorder LZTR1-related schwannomatosis Noonan syndrome 10 Noonan syndrome 2 RASopathy	Reviewed By Expert Panel	CA204980	rs_797045165	12 SubmittersRCV000191028 RCV000658480 RCV000763073 RCV002444774 RCV004530087 RCV004796089 RCV005401377
NM_003073.5(SMARCB1):c.*82C>T	SNV Germline	Chr22:23834262	Pathogenic/Likely pathogenic	Condition: not provided Peripheral schwannoma Schwannoma SMARCB1-related schwannomatosis Coffin-Siris syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA10583893	rs_878854600	6 SubmittersRCV000231611 RCV000626834 RCV000656363 RCV005365185 RCV003298297
NM_006767.4(LZTR1):c.1396C>T (p.Arg466Trp)	SNV Germline	Chr22:20993966	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Cardiovascular phenotype LZTR1-related schwannomatosis Noonan syndrome 10 LZTR1-related disorder LZTR1-related schwannomatosis Noonan syndrome 10 Noonan syndrome 2 Noonan syndrome 2	Criteria Provided Conflicting Classifications	CA10118872	rs_550922200	11 SubmittersRCV000355063 RCV002392792 RCV003236580 RCV005055101 RCV004535249 RCV005025413 RCV005238816
NM_006767.4(LZTR1):c.1084C>T (p.Arg362Ter)	SNV Germline	Chr22:20992304	Likely pathogenic	Condition: not provided Noonan syndrome 2 LZTR1-related schwannomatosis Noonan syndrome and Noonan-related syndrome See cases Cardiovascular phenotype Hereditary cancer-predisposing syndrome Short stature Noonan syndrome 10 LZTR1-related schwannomatosis Noonan syndrome 10 Schwannomatosis Hereditary cancer-predisposing syndrome RASopathy Noonan syndrome 2 Noonan syndrome 10 LZTR1-related schwannomatosis	Reviewed By Expert Panel	CA10118715	rs_189150283	17 SubmittersRCV000329167 RCV001706423 RCV001799649 RCV001813447 RCV002252087 RCV002429235 RCV000736158 RCV000763074 RCV003387519 RCV001193024 RCV005600896 RCV004732473 RCV005033851
NM_003073.5(SMARCB1):c.723C>T (p.Ile241=)	SNV Germline	Chr22:23816864	Conflicting classifications of pathogenicity	Coffin-Siris syndrome Schwannomatosis Rhabdoid tumor predisposition syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA10146036	rs_752910574	3 SubmittersRCV000269507 RCV000308154 RCV000365158 RCV000572980 RCV001417685
NM_000268.4(NF2):c.*359G>A	SNV Germline	Chr22:29695161	Conflicting classifications of pathogenicity	Neurofibromatosis, type 2 Condition: not provided Familial meningioma Neurofibromatosis, type 2 SMARCB1-related schwannomatosis	Criteria Provided Conflicting Classifications	CA10645249	rs_572307337	3 SubmittersRCV000307146 RCV003221940 RCV002488733
NM_003073.5(SMARCB1):c.987-4G>C	SNV Germline	Chr22:23833568	Conflicting classifications of pathogenicity	Rhabdoid tumor predisposition syndrome 1 SMARCB1-related schwannomatosis Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA10650931	rs_745773662	4 SubmittersRCV000334169 RCV000372477 RCV001487925 RCV002257649
NM_003073.5(SMARCB1):c.607G>A (p.Ala203Thr)	SNV Germline	Chr22:23803401	Conflicting classifications of pathogenicity	SMARCB1-related schwannomatosis Rhabdoid tumor predisposition syndrome 1 Condition: not provided Rhabdoid tumor predisposition syndrome 2 Hereditary cancer-predisposing syndrome Rhabdoid tumor predisposition syndrome 1 SMARCB1-related schwannomatosis Intellectual disability, autosomal dominant 15	Criteria Provided Conflicting Classifications	CA10145992	rs_762962010	6 SubmittersRCV000299341 RCV000337956 RCV000559614 RCV001789772 RCV001024873 RCV005027439
NM_003073.5(SMARCB1):c.628+13C>T	SNV Germline	Chr22:23803435	Conflicting classifications of pathogenicity	SMARCB1-related schwannomatosis not specified Rhabdoid tumor predisposition syndrome 1 Condition: not provided Intellectual disability, autosomal dominant 15 Hereditary cancer-predisposing syndrome Coffin-Siris syndrome	Criteria Provided Conflicting Classifications	CA10145998	rs_184021903	12 SubmittersRCV000361783 RCV000431220 RCV000407869 RCV001528356 RCV001335092 RCV002255370 RCV005365254
NM_003073.5(SMARCB1):c.*17C>T	SNV Germline	Chr22:23834197	Conflicting classifications of pathogenicity	SMARCB1-related schwannomatosis Rhabdoid tumor predisposition syndrome 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA10146137	rs_372348692	3 SubmittersRCV000286295 RCV000391464 RCV003311770
NM_003073.5(SMARCB1):c.158G>T (p.Arg53Leu)	SNV Germline	Chr22:23791820	Pathogenic/Likely pathogenic	Condition: not provided SMARCB1-related schwannomatosis Hereditary cancer-predisposing syndrome SMARCB1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA16616285	rs_779769475	5 SubmittersRCV000490024 RCV000785603 RCV002402285 RCV004740242
NM_003073.5(SMARCB1):c.444C>T (p.Ser148=)	SNV Germline	Chr22:23801025	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided SMARCB1-related schwannomatosis SMARCB1-related disorder	Criteria Provided Conflicting Classifications	CA10145918	rs_138184483	6 SubmittersRCV000568751 RCV000592528 RCV005235343 RCV004551567
NM_006767.4(LZTR1):c.509G>A (p.Arg170Gln)	SNV Germline	Chr22:20988118	Pathogenic/Likely pathogenic	Condition: not provided LZTR1-related schwannomatosis LZTR1-related disorder Male infertility with azoospermia or oligozoospermia due to single gene mutation Cardiovascular phenotype Hereditary cancer-predisposing syndrome Noonan syndrome 10	Criteria Provided Multiple Submitters No Conflicts	CA10118451	rs_781431741	8 SubmittersRCV000482299 RCV001542701 RCV004541521 RCV003991579 RCV002341137 RCV004722819
NM_006767.4(LZTR1):c.2387T>C (p.Ile796Thr)	SNV Germline	Chr22:20996947	Conflicting classifications of pathogenicity	Condition: not provided Noonan syndrome 2 Cardiovascular phenotype Hereditary cancer-predisposing syndrome LZTR1-related schwannomatosis Noonan syndrome 2 LZTR1-related schwannomatosis Noonan syndrome 10 Noonan syndrome 10	Criteria Provided Conflicting Classifications	CA10119384	rs_141672122	9 SubmittersRCV000481440 RCV001507320 RCV002455940 RCV003470588 RCV005027560 RCV005055119
NM_006767.4(LZTR1):c.1904C>T (p.Pro635Leu)	SNV Germline	Chr22:20994988	Conflicting classifications of pathogenicity	Noonan syndrome 10 Condition: not provided not specified LZTR1-related schwannomatosis Cardiovascular phenotype Hereditary cancer-predisposing syndrome LZTR1-related disorder	Criteria Provided Conflicting Classifications	CA10119101	rs_148677674	8 SubmittersRCV000499922 RCV001454598 RCV001584206 RCV003494569 RCV002413371 RCV004535572
NM_006767.4(LZTR1):c.59C>T (p.Ala20Val)	SNV Germline	Chr22:20982430	Conflicting classifications of pathogenicity	Condition: not provided Noonan syndrome 10 Cardiovascular phenotype Hereditary cancer-predisposing syndrome LZTR1-related schwannomatosis	Criteria Provided Conflicting Classifications	CA10118278	rs_770762358	4 SubmittersRCV000523878 RCV001788275 RCV002358417 RCV004568673
NM_006767.4(LZTR1):c.1149+1G>A	SNV Germline	Chr22:20992370	Likely pathogenic	Condition: not provided Cardiovascular phenotype Hereditary cancer-predisposing syndrome LZTR1-related schwannomatosis Noonan syndrome 2 Noonan syndrome 10 LZTR1-related schwannomatosis RASopathy	Reviewed By Expert Panel	CA322328053	rs_767191322	9 SubmittersRCV000522778 RCV002456013 RCV004568672 RCV005034074 RCV005401478
NM_000268.4(NF2):c.1701C>G (p.Asp567Glu)	SNV Germline	Chr22:29681565	Conflicting classifications of pathogenicity	Neurofibromatosis, type 2 SMARCB1-related schwannomatosis Familial meningioma Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA10175568	rs_1049732514	5 SubmittersRCV000557509 RCV000765631 RCV001012778
NM_006767.4(LZTR1):c.1018C>T (p.Arg340Ter)	SNV Germline	Chr22:20992238	Pathogenic/Likely pathogenic	Condition: not provided Noonan syndrome 10 LZTR1-related schwannomatosis Hereditary cancer-predisposing syndrome Cardiovascular phenotype Schwannomatosis	Criteria Provided Multiple Submitters No Conflicts	CA10118698	rs_149850248	15 SubmittersRCV000578630 RCV001293930 RCV001310194 RCV002358639 RCV004767415
NM_006767.4(LZTR1):c.400+1G>C	SNV Germline	Chr22:20987584	Likely pathogenic	Hereditary cancer-predisposing syndrome Cardiovascular phenotype Condition: not provided Schwannomatosis	Criteria Provided Multiple Submitters No Conflicts	CA410779488	rs_1555927561	3 SubmittersRCV004559255 RCV001855308 RCV004767447
NM_006767.4(LZTR1):c.1943-256C>T	SNV Germline	Chr22:20995490	Pathogenic	Noonan syndrome 2 Condition: not provided Hereditary cancer-predisposing syndrome Cardiovascular phenotype Noonan syndrome LZTR1-related schwannomatosis RASopathy	Reviewed By Expert Panel	CA10119150	rs_761685529	11 SubmittersRCV000735432 RCV000681140 RCV002413779 RCV003336096 RCV003465362 RCV005401538
NM_003073.5(SMARCB1):c.309C>T (p.Asn103=)	SNV Germline	Chr22:23793635	Conflicting classifications of pathogenicity	Condition: not provided Rhabdoid tumor predisposition syndrome 1 SMARCB1-related schwannomatosis Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA322596933	rs_145695677	4 SubmittersRCV000639928 RCV001143956 RCV001143957 RCV002325244
NM_000268.4(NF2):c.1232G>A (p.Arg411His)	SNV Germline	Chr22:29673378	Conflicting classifications of pathogenicity	Neurofibromatosis, type 2 Familial meningioma Neurofibromatosis, type 2 SMARCB1-related schwannomatosis Hereditary cancer-predisposing syndrome Familial meningioma not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA037304	rs_201214090	7 SubmittersRCV000632640 RCV000765629 RCV001010465 RCV001198705 RCV001249076 RCV004723000
NM_006767.4(LZTR1):c.1785+1G>A	SNV Germline	Chr22:20994728	Pathogenic/Likely pathogenic	Condition: not provided LZTR1-related schwannomatosis Noonan syndrome 2 Hereditary cancer-predisposing syndrome Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA10119055	rs_145594158	7 SubmittersRCV000658061 RCV001788313 RCV002248854 RCV002406499
NM_006767.4(LZTR1):c.-38T>A	SNV Germline	Chr22:20982334	Conflicting classifications of pathogenicity	Noonan syndrome 2 Hereditary cancer-predisposing syndrome Cardiovascular phenotype Condition: not provided Noonan syndrome 2 Noonan syndrome 10 Noonan syndrome 2 LZTR1-related schwannomatosis Noonan syndrome 10 LZTR1-related schwannomatosis Noonan syndrome	Criteria Provided Conflicting Classifications	CA638942431	rs_1459786357	7 SubmittersRCV000754921 RCV002360688 RCV002462004 RCV002245073 RCV002499144 RCV003465433 RCV005357885
NM_006767.4(LZTR1):c.1311G>A (p.Trp437Ter)	SNV Germline	Chr22:20993712	Pathogenic	Noonan syndrome 2 Condition: not provided Hereditary cancer-predisposing syndrome Cardiovascular phenotype LZTR1-related schwannomatosis	Criteria Provided Multiple Submitters No Conflicts	CA10118811	rs_770933647	4 SubmittersRCV000754920 RCV001855426 RCV002386139 RCV004568485
NM_006767.4(LZTR1):c.649G>T (p.Glu217Ter)	SNV Germline	Chr22:20989680	Pathogenic/Likely pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Cardiovascular phenotype LZTR1-related schwannomatosis Noonan syndrome 10 Noonan syndrome 2	Criteria Provided Multiple Submitters No Conflicts	CA410780389	rs_1302923931	3 SubmittersRCV000681412 RCV002360709 RCV005027835
NM_006767.4(LZTR1):c.848G>A (p.Arg283Gln)	SNV Germline	Chr22:20991684	Likely pathogenic	Condition: not provided Noonan syndrome 10 Noonan syndrome and Noonan-related syndrome RASopathy Noonan syndrome 1 Male infertility with azoospermia or oligozoospermia due to single gene mutation Cardiovascular phenotype Hereditary cancer-predisposing syndrome LZTR1-related disorder LZTR1-related schwannomatosis	Reviewed By Expert Panel	CA410781238	rs_1223430276	17 SubmittersRCV000681082 RCV000761304 RCV001813545 RCV002233108 RCV003151134 RCV003991581 RCV004993935 RCV004535698 RCV004568578
NM_006767.4(LZTR1):c.1855C>T (p.Arg619Cys)	SNV Germline	Chr22:20994939	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Cardiovascular phenotype Noonan syndrome 10 Noonan syndrome 2 See cases Noonan syndrome 10 LZTR1-related schwannomatosis	Criteria Provided Conflicting Classifications	CA10119089	rs_373488966	8 SubmittersRCV000681434 RCV002406527 RCV004559347 RCV004584403 RCV004788107 RCV004568579
NM_006767.4(LZTR1):c.1901A>C (p.Gln634Pro)	SNV Germline	Chr22:20994985	Conflicting classifications of pathogenicity	Condition: not provided LZTR1-related schwannomatosis Hereditary cancer-predisposing syndrome Cardiovascular phenotype not specified	Criteria Provided Conflicting Classifications	CA10119100	rs_770312150	5 SubmittersRCV000681112 RCV003459657 RCV002406522 RCV003323682
NM_006767.4(LZTR1):c.2002G>T (p.Asp668Tyr)	SNV Germline	Chr22:20995805	Conflicting classifications of pathogenicity	Condition: not provided LZTR1-related schwannomatosis Hereditary cancer-predisposing syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10119195	rs_776005012	4 SubmittersRCV000680839 RCV003459656 RCV002422461
NM_000268.4(NF2):c.215T>C (p.Val72Ala)	SNV Germline	Chr22:29636851	Conflicting classifications of pathogenicity	Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome Neurofibromatosis, type 2 SMARCB1-related schwannomatosis Familial meningioma Neurofibromatosis, type 2 Familial meningioma Condition: not provided Familial meningioma	Criteria Provided Conflicting Classifications	CA411152626	rs_1260510937	11 SubmittersRCV000689963 RCV001014488 RCV000765628 RCV005027851 RCV003424281 RCV003465572
NM_000268.4(NF2):c.1619A>G (p.Asn540Ser)	SNV Germline	Chr22:29681483	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Neurofibromatosis, type 2 Neurofibromatosis, type 2 Familial meningioma SMARCB1-related schwannomatosis	Criteria Provided Conflicting Classifications	CA032390	rs_774824164	6 SubmittersRCV001012452 RCV000685036 RCV000765630
NM_003073.5(SMARCB1):c.790A>G (p.Ile264Val)	SNV Germline	Chr22:23816931	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome SMARCB1-related schwannomatosis Rhabdoid tumor predisposition syndrome 1 Intellectual disability, autosomal dominant 15	Criteria Provided Conflicting Classifications	CA322568020	rs_887245809	3 SubmittersRCV000704305 RCV002422590 RCV005027875
NM_006767.4(LZTR1):c.2220-17C>A	SNV Germline	Chr22:20996679	Likely pathogenic	Noonan syndrome 2 LZTR1-related schwannomatosis Noonan syndrome	Criteria Provided Multiple Submitters No Conflicts	CA638942602	rs_1249726034	3 SubmittersRCV000735430 RCV003465672 RCV005357978
NM_006767.4(LZTR1):c.628C>T (p.Arg210Ter)	SNV Germline	Chr22:20989659	Pathogenic	Noonan syndrome 2 LZTR1-related schwannomatosis Hereditary cancer-predisposing syndrome Cardiovascular phenotype Condition: not provided Noonan syndrome 10 LZTR1-related disorder Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA10118525	rs_150419186	14 SubmittersRCV000735431 RCV002290002 RCV002360863 RCV000760481 RCV001330297 RCV004535887 RCV005601092
NM_006767.4(LZTR1):c.1394C>T (p.Ala465Val)	SNV Germline	Chr22:20993964	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Cardiovascular phenotype LZTR1-related schwannomatosis Noonan syndrome 10 Noonan syndrome 2 not specified	Criteria Provided Conflicting Classifications	CA10118870	rs_753757778	7 SubmittersRCV000762050 RCV002388385 RCV005392357 RCV005436049
NM_006767.4(LZTR1):c.486G>A (p.Trp162Ter)	SNV Germline	Chr22:20988095	Pathogenic	LZTR1-related schwannomatosis Condition: not provided Hereditary cancer-predisposing syndrome Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA410779891	rs_1569154722	3 SubmittersRCV000785628 RCV001380282 RCV005372430
NM_006767.4(LZTR1):c.2462T>C (p.Ile821Thr)	SNV Germline	Chr22:20997287	Conflicting classifications of pathogenicity	Noonan syndrome 2 Condition: not provided LZTR1-related disorder LZTR1-related schwannomatosis Noonan syndrome 1 Cardiovascular phenotype Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA410781711	rs_1275511136	8 SubmittersRCV000787273 RCV003133592 RCV004535916 RCV003989603 RCV004698789 RCV004559650
NM_006767.4(LZTR1):c.1665G>A (p.Leu555=)	SNV Germline	Chr22:20994607	Conflicting classifications of pathogenicity	Condition: not provided Noonan syndrome 2 Noonan syndrome 10 LZTR1-related schwannomatosis Hereditary cancer-predisposing syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10119018	rs_760948342	3 SubmittersRCV000975934 RCV005392606 RCV005520379
NM_006767.4(LZTR1):c.856G>A (p.Gly286Arg)	SNV Germline	Chr22:20991692	Conflicting classifications of pathogenicity	Cardiovascular phenotype Hereditary cancer-predisposing syndrome Condition: not provided LZTR1-related schwannomatosis	Criteria Provided Conflicting Classifications	CA10118653	rs_773016962	4 SubmittersRCV002447879 RCV003099974 RCV003471364
NM_006767.4(LZTR1):c.2407-2A>G	SNV Germline	Chr22:20997230	Conflicting classifications of pathogenicity	Condition: not provided Noonan syndrome 2 LZTR1-related schwannomatosis Hereditary cancer-predisposing syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA410781431	rs_1158550690	9 SubmittersRCV000997883 RCV001291825 RCV003227886 RCV002454247
NM_003073.5(SMARCB1):c.568C>T (p.Arg190Trp)	SNV Germline	Chr22:23803362	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome SMARCB1-related schwannomatosis Condition: not provided Autism spectrum disorder	Criteria Provided Conflicting Classifications	CA410935796	rs_1601405064	4 SubmittersRCV001024411 RCV001195823 RCV001365280 RCV003127587
NM_006767.4(LZTR1):c.22G>T (p.Gly8Trp)	SNV Germline	Chr22:20982393	Conflicting classifications of pathogenicity	Condition: not provided Cardiovascular phenotype Hereditary cancer-predisposing syndrome LZTR1-related schwannomatosis	Criteria Provided Conflicting Classifications	CA10118266	rs_575193991	3 SubmittersRCV001065942 RCV002429718 RCV003467830
NM_006767.4(LZTR1):c.1856G>A (p.Arg619His)	SNV Germline	Chr22:20994940	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Cardiovascular phenotype LZTR1-related schwannomatosis	Criteria Provided Conflicting Classifications	CA10119090	rs_568213908	4 SubmittersRCV001060885 RCV002411569 RCV003462586
NM_006767.4(LZTR1):c.791+1G>A	SNV Germline	Chr22:20990526	Pathogenic/Likely pathogenic	Condition: not provided Cardiovascular phenotype Hereditary cancer-predisposing syndrome LZTR1-related schwannomatosis Schwannomatosis	Criteria Provided Multiple Submitters No Conflicts	CA10118614	rs_148031742	7 SubmittersRCV001092753 RCV002418577 RCV003469290 RCV004587044
NM_003073.5(SMARCB1):c.633G>A (p.Lys211=)	SNV Germline	Chr22:23816774	Conflicting classifications of pathogenicity	SMARCB1-related schwannomatosis Rhabdoid tumor predisposition syndrome 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA513737163	rs_1930218305	2 SubmittersRCV001145856 RCV001145857 RCV002559409
NM_006767.4(LZTR1):c.1939A>G (p.Ile647Val)	SNV Germline	Chr22:20995023	Conflicting classifications of pathogenicity	not specified Condition: not provided Hereditary cancer-predisposing syndrome Cardiovascular phenotype LZTR1-related schwannomatosis	Criteria Provided Conflicting Classifications	CA10119107	rs_148916790	5 SubmittersRCV001193626 RCV001773446 RCV002411728 RCV003469308
NM_006767.4(LZTR1):c.23G>C (p.Gly8Ala)	SNV Germline	Chr22:20982394	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Cardiovascular phenotype Condition: not provided LZTR1-related schwannomatosis	Criteria Provided Conflicting Classifications	CA10118268	rs_764439278	5 SubmittersRCV001201227 RCV002447045 RCV001859216 RCV003469318
NM_006767.4(LZTR1):c.981C>G (p.Ser327Arg)	SNV Germline	Chr22:20991817	Conflicting classifications of pathogenicity	Condition: not provided Cardiovascular phenotype Hereditary cancer-predisposing syndrome LZTR1-related schwannomatosis	Criteria Provided Conflicting Classifications	CA10118673	rs_778587887	3 SubmittersRCV001205124 RCV002375136 RCV004570435
NM_006767.4(LZTR1):c.1794C>A (p.Cys598Ter)	SNV Germline	Chr22:20994878	Pathogenic/Likely pathogenic	Condition: not provided LZTR1-related schwannomatosis Hereditary cancer-predisposing syndrome Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA322270032	rs_982944299	4 SubmittersRCV001202111 RCV003469321 RCV002402575
NM_006767.4(LZTR1):c.993+1G>A	SNV Germline	Chr22:20991830	Pathogenic	Noonan syndrome 2 Cardiovascular phenotype Hereditary cancer-predisposing syndrome LZTR1-related schwannomatosis Condition: not provided RASopathy not specified	Reviewed By Expert Panel	CA410781684	rs_770368435	8 SubmittersRCV001250472 RCV002379954 RCV003462828 RCV001379899 RCV005401816 RCV005414274
NM_006767.4(LZTR1):c.1085G>A (p.Arg362Gln)	SNV Germline	Chr22:20992305	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Cardiovascular phenotype LZTR1-related schwannomatosis Condition: not provided	Criteria Provided Conflicting Classifications	CA10118716	rs_745476291	4 SubmittersRCV001251317 RCV002430053 RCV004570642 RCV003698851
NM_006767.4(LZTR1):c.652-10C>A	SNV Germline	Chr22:20990376	Conflicting classifications of pathogenicity	not specified Condition: not provided LZTR1-related schwannomatosis	Criteria Provided Conflicting Classifications	CA10118579	rs_200169897	5 SubmittersRCV001260420 RCV001519192 RCV005360003
NM_006767.4(LZTR1):c.1517C>T (p.Pro506Leu)	SNV Germline	Chr22:20994171	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Cardiovascular phenotype Condition: not provided LZTR1-related schwannomatosis	Criteria Provided Conflicting Classifications	CA10118926	rs_763950976	4 SubmittersRCV001269181 RCV002393680 RCV002537711 RCV003462848
NM_006767.4(LZTR1):c.1531G>A (p.Val511Met)	SNV Germline	Chr22:20994185	Conflicting classifications of pathogenicity	not specified Condition: not provided Hereditary cancer-predisposing syndrome Cardiovascular phenotype LZTR1-related disorder Noonan syndrome 2 LZTR1-related schwannomatosis Noonan syndrome 10	Criteria Provided Conflicting Classifications	CA10118930	rs_200062851	7 SubmittersRCV001280664 RCV001664796 RCV002393683 RCV004734089 RCV005438967
NM_006767.4(LZTR1):c.2317G>A (p.Val773Met)	SNV Germline	Chr22:20996793	Conflicting classifications of pathogenicity	not specified Condition: not provided Hereditary cancer-predisposing syndrome Cardiovascular phenotype LZTR1-related schwannomatosis LZTR1-related disorder Noonan syndrome 2	Criteria Provided Conflicting Classifications	CA10119341	rs_199586863	10 SubmittersRCV001280937 RCV001871623 RCV002447250 RCV003473846 RCV004734090 RCV004789511
NM_006767.4(LZTR1):c.2407-18G>A	SNV Germline	Chr22:20997214	Conflicting classifications of pathogenicity	Condition: not provided LZTR1-related schwannomatosis	Criteria Provided Conflicting Classifications	CA10119446	rs_542841506	3 SubmittersRCV001810660 RCV003469504
NM_006767.4(LZTR1):c.658C>T (p.Gln220Ter)	SNV Germline	Chr22:20990392	Pathogenic/Likely pathogenic	Condition: not provided LZTR1-related schwannomatosis Cardiovascular phenotype Hereditary cancer-predisposing syndrome Schwannomatosis	Criteria Provided Multiple Submitters No Conflicts	CA10118584	rs_749437251	4 SubmittersRCV002543010 RCV003469506 RCV002375333 RCV004699277
NM_006767.4(LZTR1):c.353G>A (p.Arg118His)	SNV Germline	Chr22:20987536	Conflicting classifications of pathogenicity	LZTR1-related schwannomatosis Condition: not provided Hereditary cancer-predisposing syndrome Cardiovascular phenotype not specified	Criteria Provided Conflicting Classifications	CA10118387	rs_769001939	7 SubmittersRCV002225132 RCV001314262 RCV002456412 RCV005232261
NM_006767.4(LZTR1):c.1555C>T (p.Arg519Trp)	SNV Germline	Chr22:20994209	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Cardiovascular phenotype LZTR1-related schwannomatosis Noonan syndrome 2 LZTR1-related schwannomatosis Noonan syndrome 10	Criteria Provided Conflicting Classifications	CA10118940	rs_565364639	5 SubmittersRCV001313523 RCV002402878 RCV004570739 RCV005023022
NM_006767.4(LZTR1):c.1978G>A (p.Glu660Lys)	SNV Germline	Chr22:20995781	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Cardiovascular phenotype Noonan syndrome 10 LZTR1-related schwannomatosis Noonan syndrome 2 LZTR1-related schwannomatosis Noonan syndrome 10	Criteria Provided Conflicting Classifications	CA10119182	rs_151000791	6 SubmittersRCV001314421 RCV002418948 RCV002265981 RCV004570744 RCV005394933
NM_006767.4(LZTR1):c.2428C>T (p.Arg810Trp)	SNV Germline	Chr22:20997253	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Cardiovascular phenotype LZTR1-related schwannomatosis LZTR1-related disorder Noonan syndrome 2 not specified Noonan syndrome 2 LZTR1-related schwannomatosis Noonan syndrome 10	Criteria Provided Conflicting Classifications	CA10119459	rs_776893978	9 SubmittersRCV001320703 RCV002447356 RCV003447589 RCV004545200 RCV004815363 RCV002271641 RCV005023035
NM_006767.4(LZTR1):c.1055A>C (p.Tyr352Ser)	SNV Germline	Chr22:20992275	Conflicting classifications of pathogenicity	Noonan syndrome 2 Hereditary cancer-predisposing syndrome Cardiovascular phenotype Condition: not provided not specified Noonan syndrome 2 LZTR1-related schwannomatosis Noonan syndrome 10	Criteria Provided Conflicting Classifications	CA10118709	rs_368649599	6 SubmittersRCV001329630 RCV002402921 RCV002546345 RCV003226460 RCV005023053
NM_006767.4(LZTR1):c.1330G>A (p.Asp444Asn)	SNV Germline	Chr22:20993731	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Cardiovascular phenotype LZTR1-related schwannomatosis	Criteria Provided Conflicting Classifications	CA10118815	rs_775051211	5 SubmittersRCV001364081 RCV002384517 RCV003469600
NM_006767.4(LZTR1):c.263+1G>A	SNV Germline	Chr22:20983090	Likely pathogenic	Condition: not provided Cardiovascular phenotype Hereditary cancer-predisposing syndrome LZTR1-related schwannomatosis LZTR1-related disorder Noonan syndrome 2 LZTR1-related schwannomatosis Noonan syndrome 10 RASopathy	Reviewed By Expert Panel	CA10118325	rs_761241914	7 SubmittersRCV001377270 RCV002432059 RCV003462947 RCV004545823 RCV005023120 RCV005401833
NM_003073.5(SMARCB1):c.364G>T (p.Glu122Ter)	SNV Germline	Chr22:23800945	Pathogenic	Condition: not provided Schwannomatosis	Criteria Provided Single Submitter	CA410934287	rs_1929106223	2 SubmittersRCV001390133 RCV002243179
NM_006767.4(LZTR1):c.946G>A (p.Val316Met)	SNV Germline	Chr22:20991782	Conflicting classifications of pathogenicity	not specified Condition: not provided Hereditary cancer-predisposing syndrome Cardiovascular phenotype Noonan syndrome 10 LZTR1-related schwannomatosis Noonan syndrome 2	Criteria Provided Conflicting Classifications	CA10118669	rs_370315661	7 SubmittersRCV001420965 RCV001806178 RCV002449141 RCV003154035 RCV003470846 RCV004728717
NM_006767.4(LZTR1):c.594-2A>G	SNV Germline	Chr22:20989623	Pathogenic/Likely pathogenic	Condition: not provided LZTR1-related schwannomatosis Hereditary cancer-predisposing syndrome Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA410780262	rs_1374011263	4 SubmittersRCV001552275 RCV003463049 RCV004995942
NM_003073.5(SMARCB1):c.500+883T>G	SNV Germline	Chr22:23801964	Pathogenic	Schwannomatosis	Criteria Provided Single Submitter	CA2573054982	rs_2145980559	1 SubmittersRCV001824473
NM_003073.5(SMARCB1):c.500+887G>A	SNV Germline	Chr22:23801968	Pathogenic	Schwannomatosis	Criteria Provided Single Submitter	CA2573054983	rs_2145980562	1 SubmittersRCV001824474
NM_006767.4(LZTR1):c.2090G>A (p.Arg697Gln)	SNV Germline	Chr22:20995983	Conflicting classifications of pathogenicity	Condition: not provided LZTR1-related schwannomatosis Hereditary cancer-predisposing syndrome Cardiovascular phenotype Noonan syndrome 2 Noonan syndrome 10 Noonan syndrome 10 LZTR1-related schwannomatosis Noonan syndrome 2	Criteria Provided Conflicting Classifications	CA501021	rs_370638947	12 SubmittersRCV001573375 RCV001824176 RCV002421210 RCV004587183 RCV004785282 RCV005395083
NM_006767.4(LZTR1):c.263+5G>A	SNV Germline	Chr22:20983094	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Cardiovascular phenotype LZTR1-related schwannomatosis	Criteria Provided Conflicting Classifications	CA638551476	rs_771241129	4 SubmittersRCV001665466 RCV002425020 RCV004571068
NM_006767.4(LZTR1):c.320G>C (p.Arg107Thr)	SNV Germline	Chr22:20985897	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Cardiovascular phenotype LZTR1-related schwannomatosis	Criteria Provided Conflicting Classifications	CA410778913	rs_1301901369	6 SubmittersRCV001723275 RCV002449402 RCV004571070
NM_006767.4(LZTR1):c.994-1G>T	SNV Germline	Chr22:20992213	Likely pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Cardiovascular phenotype LZTR1-related schwannomatosis	Criteria Provided Multiple Submitters No Conflicts	CA10118692	rs_758238174	5 SubmittersRCV001732427 RCV002386508 RCV003464126
NM_006767.4(LZTR1):c.1260+1G>A	SNV Germline	Chr22:20992905	Likely pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Cardiovascular phenotype LZTR1-related schwannomatosis Noonan syndrome 10 LZTR1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA10118772	rs_143868364	7 SubmittersRCV001768491 RCV002425044 RCV003464128 RCV003458230 RCV004536285
NM_006767.4(LZTR1):c.1556G>A (p.Arg519Gln)	SNV Germline	Chr22:20994210	Conflicting classifications of pathogenicity	Condition: not provided Cardiovascular phenotype Hereditary cancer-predisposing syndrome Noonan syndrome 2 Noonan syndrome 10 Noonan syndrome 2 LZTR1-related schwannomatosis Noonan syndrome 10 LZTR1-related schwannomatosis	Criteria Provided Conflicting Classifications	CA10118941	rs_149502567	6 SubmittersRCV001767699 RCV002405300 RCV004558637 RCV005038299 RCV004571076
NM_006767.4(LZTR1):c.1397G>T (p.Arg466Leu)	SNV Germline	Chr22:20993967	Conflicting classifications of pathogenicity	Condition: not provided Cardiovascular phenotype Hereditary cancer-predisposing syndrome LZTR1-related schwannomatosis	Criteria Provided Conflicting Classifications	CA410775160	rs_587777180	4 SubmittersRCV001761449 RCV002388649 RCV003447600
NM_006767.4(LZTR1):c.1261-2A>G	SNV Germline	Chr22:20993660	Conflicting classifications of pathogenicity	Condition: not provided LZTR1-related schwannomatosis Hereditary cancer-predisposing syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10118796	rs_759240190	4 SubmittersRCV001769173 RCV003470887 RCV005520561
NM_000268.4(NF2):c.448-1G>A	SNV Germline	Chr22:29654656	Pathogenic	SMARCB1-related schwannomatosis Neurofibromatosis, type 2	Criteria Provided Multiple Submitters No Conflicts	CA411142101	rs_2146966216	3 SubmittersRCV002466695 RCV004594587
NM_006767.4(LZTR1):c.1001G>C (p.Gly334Ala)	SNV Germline	Chr22:20992221	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Cardiovascular phenotype LZTR1-related schwannomatosis	Criteria Provided Conflicting Classifications	CA10118693	rs_777494767	5 SubmittersRCV001861129 RCV002386553 RCV003474021
NM_006767.4(LZTR1):c.993+1G>T	SNV Germline	Chr22:20991830	Pathogenic/Likely pathogenic	LZTR1-related schwannomatosis Hereditary cancer-predisposing syndrome Cardiovascular phenotype Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA10118678	rs_770368435	5 SubmittersRCV003470912 RCV002386563 RCV001782415
NM_006767.4(LZTR1):c.320+1G>C	SNV Germline	Chr22:20985898	Likely pathogenic	Noonan syndrome 10 Hereditary cancer-predisposing syndrome Cardiovascular phenotype LZTR1-related schwannomatosis Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA410778915	rs_943939913	5 SubmittersRCV001809170 RCV002324209 RCV004571109 RCV003738099
NM_006767.4(LZTR1):c.2134G>T (p.Glu712Ter)	SNV Germline	Chr22:20996027	Likely pathogenic	Condition: not provided LZTR1-related schwannomatosis	Criteria Provided Multiple Submitters No Conflicts	CA410779511	rs_1409419929	2 SubmittersRCV001816318 RCV003470926
NM_006767.4(LZTR1):c.320+1G>A	SNV Germline	Chr22:20985898	Likely pathogenic	Hereditary cancer-predisposing syndrome Cardiovascular phenotype Condition: not provided LZTR1-related schwannomatosis Schwannomatosis	Criteria Provided Multiple Submitters No Conflicts	CA322321256	rs_943939913	4 SubmittersRCV002324215 RCV002543322 RCV003470941 RCV004699489
NM_006767.4(LZTR1):c.2407-1G>A	SNV Germline	Chr22:20997231	Conflicting classifications of pathogenicity	Condition: not provided LZTR1-related schwannomatosis Hereditary cancer-predisposing syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10119453	rs_200897030	3 SubmittersRCV001929465 RCV004571630 RCV005565025
NM_006767.4(LZTR1):c.1943-1G>A	SNV Germline	Chr22:20995745	Likely pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Cardiovascular phenotype Noonan syndrome 10 LZTR1-related schwannomatosis Noonan syndrome 2 LZTR1-related schwannomatosis	Criteria Provided Multiple Submitters No Conflicts	CA410778922	rs_1189015572	4 SubmittersRCV002023238 RCV002407299 RCV002507803 RCV003471272
NM_006767.4(LZTR1):c.1806G>A (p.Val602=)	SNV Germline	Chr22:20994890	Conflicting classifications of pathogenicity	Condition: not provided Cardiovascular phenotype Hereditary cancer-predisposing syndrome LZTR1-related schwannomatosis not specified	Criteria Provided Conflicting Classifications	CA513699377	rs_1157548960	4 SubmittersRCV001893124 RCV002407011 RCV004579579 RCV004782814
NM_006767.4(LZTR1):c.2326-6T>C	SNV Germline	Chr22:20996880	Conflicting classifications of pathogenicity	Condition: not provided not specified LZTR1-related schwannomatosis	Criteria Provided Conflicting Classifications	CA10119363	rs_199965510	3 SubmittersRCV001971453 RCV002236195 RCV003447614
NM_006767.4(LZTR1):c.898G>A (p.Gly300Arg)	SNV Germline	Chr22:20991734	Conflicting classifications of pathogenicity	Condition: not provided LZTR1-related schwannomatosis Cardiovascular phenotype Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA410781376	rs_1569156022	3 SubmittersRCV001927508 RCV004571563 RCV005374866
NM_006767.4(LZTR1):c.1919C>T (p.Pro640Leu)	SNV Germline	Chr22:20995003	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Cardiovascular phenotype LZTR1-related schwannomatosis	Criteria Provided Conflicting Classifications	CA322270212	rs_866139168	4 SubmittersRCV002014943 RCV002407230 RCV004571877
NM_006767.4(LZTR1):c.1235G>A (p.Arg412His)	SNV Germline	Chr22:20992879	Conflicting classifications of pathogenicity	Condition: not provided Cardiovascular phenotype Hereditary cancer-predisposing syndrome Noonan syndrome 10 Noonan syndrome 2 LZTR1-related schwannomatosis RASopathy	Criteria Provided Conflicting Classifications	CA322267992	rs_935736801	5 SubmittersRCV002041193 RCV002361410 RCV002486744 RCV005414287
NM_006767.4(LZTR1):c.55G>C (p.Gly19Arg)	SNV Germline	Chr22:20982426	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Cardiovascular phenotype Condition: not provided not specified LZTR1-related schwannomatosis	Criteria Provided Conflicting Classifications	CA322316108	rs_375788038	4 SubmittersRCV002344081 RCV001972222 RCV003994362 RCV003471083
NM_006767.4(LZTR1):c.2152C>T (p.Gln718Ter)	SNV Germline	Chr22:20996045	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Cardiovascular phenotype LZTR1-related schwannomatosis Noonan syndrome	Criteria Provided Conflicting Classifications	CA410779633	rs_767482247	4 SubmittersRCV001993332 RCV002425320 RCV003464285 RCV005626563
NM_006767.4(LZTR1):c.401-1G>C	SNV Germline	Chr22:20988009	Likely pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Cardiovascular phenotype Schwannomatosis	Criteria Provided Multiple Submitters No Conflicts	CA410779564	rs_747225246	3 SubmittersRCV001976786 RCV002370648 RCV004699611
NM_006767.4(LZTR1):c.263G>T (p.Gly88Val)	SNV Germline	Chr22:20983089	Conflicting classifications of pathogenicity	Condition: not provided LZTR1-related schwannomatosis Cardiovascular phenotype Hereditary cancer-predisposing syndrome Noonan syndrome 10 Noonan syndrome 2 LZTR1-related schwannomatosis	Criteria Provided Conflicting Classifications	CA322316706	rs_1051725799	5 SubmittersRCV002013915 RCV003471262 RCV004558801 RCV005025638
NM_006767.4(LZTR1):c.1033G>T (p.Glu345Ter)	SNV Germline	Chr22:20992253	Pathogenic/Likely pathogenic	Condition: not provided LZTR1-related schwannomatosis	Criteria Provided Multiple Submitters No Conflicts	CA410781836	rs_761956867	3 SubmittersRCV001941944 RCV003471156
NM_006767.4(LZTR1):c.465C>G (p.Tyr155Ter)	SNV Germline	Chr22:20988074	Pathogenic/Likely pathogenic	Condition: not provided Noonan syndrome 2 LZTR1-related schwannomatosis Noonan syndrome Noonan syndrome 2 Noonan syndrome 10 Cardiovascular phenotype Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA410779843	rs_753295968	8 SubmittersRCV002037971 RCV003994364 RCV003389264 RCV004017884 RCV002243491 RCV002331528
NM_006767.4(LZTR1):c.1957C>T (p.Gln653Ter)	SNV Germline	Chr22:20995760	Pathogenic/Likely pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Cardiovascular phenotype LZTR1-related schwannomatosis	Criteria Provided Multiple Submitters No Conflicts	CA10119172	rs_760312637	3 SubmittersRCV001941602 RCV004558762 RCV003471148
NM_006767.4(LZTR1):c.1616-2A>G	SNV Germline	Chr22:20994556	Likely pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Cardiovascular phenotype LZTR1-related schwannomatosis	Criteria Provided Multiple Submitters No Conflicts	CA410776426	rs_1328046881	3 SubmittersRCV002022301 RCV002398048 RCV004571886
NM_006767.4(LZTR1):c.2432C>T (p.Ser811Leu)	SNV Germline	Chr22:20997257	Conflicting classifications of pathogenicity	Condition: not provided Cardiovascular phenotype Hereditary cancer-predisposing syndrome LZTR1-related schwannomatosis	Criteria Provided Conflicting Classifications	CA10119461	rs_769880462	4 SubmittersRCV001913103 RCV002449557 RCV004571576
NM_006767.4(LZTR1):c.1104C>G (p.Asp368Glu)	SNV Germline	Chr22:20992324	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Cardiovascular phenotype LZTR1-related schwannomatosis	Criteria Provided Conflicting Classifications	CA410782065	rs_1271934002	3 SubmittersRCV002030560 RCV002425380 RCV003471231
NM_006767.4(LZTR1):c.2284C>T (p.Gln762Ter)	SNV Germline	Chr22:20996760	Pathogenic	Schwannomatosis Noonan syndrome 2 Condition: not provided Hereditary cancer-predisposing syndrome Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA410780861	rs_1924868328	3 SubmittersRCV003483868 RCV001972551 RCV004558763
NM_006767.4(LZTR1):c.791+1G>C	SNV Germline	Chr22:20990526	Pathogenic/Likely pathogenic	Condition: not provided LZTR1-related schwannomatosis	Criteria Provided Multiple Submitters No Conflicts	CA322326205	rs_148031742	3 SubmittersRCV002008243 RCV003471228
NM_006767.4(LZTR1):c.115G>T (p.Glu39Ter)	SNV Germline	Chr22:20982486	Pathogenic/Likely pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Cardiovascular phenotype LZTR1-related schwannomatosis	Criteria Provided Multiple Submitters No Conflicts	CA10118284	rs_762434811	3 SubmittersRCV001951347 RCV002352656 RCV002290824
NM_006767.4(LZTR1):c.784G>A (p.Asp262Asn)	SNV Germline	Chr22:20990518	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Cardiovascular phenotype LZTR1-related schwannomatosis	Criteria Provided Conflicting Classifications	CA410780704	rs_772266158	4 SubmittersRCV001903717 RCV002407046 RCV003464221
NM_006767.4(LZTR1):c.708C>A (p.Cys236Ter)	SNV Germline	Chr22:20990442	Pathogenic/Likely pathogenic	Condition: not provided LZTR1-related schwannomatosis	Criteria Provided Multiple Submitters No Conflicts	CA410780528	rs_2147964053	2 SubmittersRCV001956454 RCV002290821
NM_006767.4(LZTR1):c.1433G>A (p.Arg478Gln)	SNV Germline	Chr22:20994003	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Cardiovascular phenotype not specified LZTR1-related schwannomatosis	Criteria Provided Conflicting Classifications	CA10118886	rs_138036477	5 SubmittersRCV001968188 RCV002388938 RCV003388069 RCV004571757
NM_006767.4(LZTR1):c.2244C>G (p.Tyr748Ter)	SNV Germline	Chr22:20996720	Pathogenic/Likely pathogenic	Condition: not provided LZTR1-related schwannomatosis Noonan syndrome 10 Noonan syndrome 2	Criteria Provided Multiple Submitters No Conflicts	CA410780774	rs_1682503990	2 SubmittersRCV001930333 RCV005023430
NM_006767.4(LZTR1):c.1514G>A (p.Arg505Gln)	SNV Germline	Chr22:20994168	Conflicting classifications of pathogenicity	Condition: not provided Cardiovascular phenotype Hereditary cancer-predisposing syndrome LZTR1-related schwannomatosis not specified	Criteria Provided Conflicting Classifications	CA10118925	rs_201773172	4 SubmittersRCV001895254 RCV002388754 RCV003470990 RCV004801075
NM_006767.4(LZTR1):c.1513C>G (p.Arg505Gly)	SNV Germline	Chr22:20994167	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Cardiovascular phenotype LZTR1-related schwannomatosis Noonan syndrome 10 Noonan syndrome 2 LZTR1-related schwannomatosis	Criteria Provided Conflicting Classifications	CA10118923	rs_770974858	5 SubmittersRCV001918553 RCV002388816 RCV005023427 RCV003471034
NM_006767.4(LZTR1):c.1078A>T (p.Lys360Ter)	SNV Germline	Chr22:20992298	Likely pathogenic	LZTR1-related schwannomatosis Noonan syndrome 10 Noonan syndrome 2	Criteria Provided Single Submitter	CA10118713	rs_751308379	1 SubmittersRCV002244164
NM_006767.4(LZTR1):c.1682G>A (p.Arg561His)	SNV Germline	Chr22:20994624	Conflicting classifications of pathogenicity	Noonan syndrome 2 Cardiovascular phenotype Hereditary cancer-predisposing syndrome LZTR1-related schwannomatosis Condition: not provided LZTR1-related disorder	Criteria Provided Conflicting Classifications	CA322269732	rs_970027059	5 SubmittersRCV002249100 RCV002400401 RCV004572085 RCV003738162 RCV004545265
NM_006767.4(LZTR1):c.1942G>T (p.Gly648Cys)	SNV Germline	Chr22:20995026	Conflicting classifications of pathogenicity	LZTR1-related schwannomatosis Cardiovascular phenotype Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA410778806	rs_1417500183	3 SubmittersRCV002266556 RCV002409628 RCV005058200
NM_006767.4(LZTR1):c.400G>C (p.Gly134Arg)	SNV Germline	Chr22:20987583	Likely pathogenic	LZTR1-related schwannomatosis	Criteria Provided Single Submitter	CA410779483	rs_1440693988	1 SubmittersRCV002272718
NM_006767.4(LZTR1):c.423T>G (p.Tyr141Ter)	SNV Germline	Chr22:20988032	Pathogenic/Likely pathogenic	Condition: not provided Noonan syndrome 10 LZTR1-related schwannomatosis Noonan syndrome 2 Cardiovascular phenotype Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA10118437	rs_141357465	3 SubmittersRCV003094603 RCV005025798 RCV002328204
NM_006767.4(LZTR1):c.365C>G (p.Ser122Trp)	SNV Germline	Chr22:20987548	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Cardiovascular phenotype LZTR1-related schwannomatosis Condition: not provided	Criteria Provided Conflicting Classifications	CA410779357	rs_587777177	3 SubmittersRCV002452534 RCV003471337 RCV005096344
NM_006767.4(LZTR1):c.1149G>C (p.Glu383Asp)	SNV Germline	Chr22:20992369	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Cardiovascular phenotype LZTR1-related schwannomatosis Condition: not provided	Criteria Provided Conflicting Classifications	CA410782155	rs_757111052	3 SubmittersRCV002460324 RCV003464453 RCV005096335
NM_006767.4(LZTR1):c.499A>C (p.Ile167Leu)	SNV Germline	Chr22:20988108	Conflicting classifications of pathogenicity	Cardiovascular phenotype Hereditary cancer-predisposing syndrome LZTR1-related schwannomatosis LZTR1-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA10118448	rs_778265576	4 SubmittersRCV002342980 RCV003471345 RCV004736158 RCV003688974
NM_006767.4(LZTR1):c.791+1G>T	SNV Germline	Chr22:20990526	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Cardiovascular phenotype Condition: not provided LZTR1-related schwannomatosis	Criteria Provided Multiple Submitters No Conflicts	CA10118615	rs_148031742	4 SubmittersRCV002416692 RCV003103453 RCV003471360
NM_006767.4(LZTR1):c.1260G>A (p.Gln420=)	SNV Germline	Chr22:20992904	Conflicting classifications of pathogenicity	Cardiovascular phenotype Hereditary cancer-predisposing syndrome Condition: not provided LZTR1-related schwannomatosis	Criteria Provided Conflicting Classifications	CA513457115	rs_1168913250	4 SubmittersRCV002434696 RCV003099916 RCV003471362
NM_006767.4(LZTR1):c.684C>A (p.Cys228Ter)	SNV Germline	Chr22:20990418	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Cardiovascular phenotype LZTR1-related schwannomatosis Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA410780475	rs_1343634751	3 SubmittersRCV002377983 RCV003471358 RCV005097026
NM_006767.4(LZTR1):c.1272C>G (p.Tyr424Ter)	SNV Germline	Chr22:20993673	Pathogenic/Likely pathogenic	Cardiovascular phenotype Hereditary cancer-predisposing syndrome LZTR1-related schwannomatosis Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA410774304	rs_752388008	3 SubmittersRCV002449964 RCV003471369 RCV005097306
NM_006767.4(LZTR1):c.1353+1G>A	SNV Germline	Chr22:20993755	Conflicting classifications of pathogenicity	Cardiovascular phenotype Hereditary cancer-predisposing syndrome Condition: not provided Schwannomatosis	Criteria Provided Conflicting Classifications	CA410774794	rs_1170363408	3 SubmittersRCV002387983 RCV003561003 RCV005239411
NM_006767.4(LZTR1):c.1353+1G>T	SNV Germline	Chr22:20993755	Likely pathogenic	Hereditary cancer-predisposing syndrome Cardiovascular phenotype LZTR1-related schwannomatosis Condition: not provided LZTR1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA410774802	rs_1170363408	5 SubmittersRCV002387984 RCV003447627 RCV003108071 RCV004725266
NM_006767.4(LZTR1):c.1354-2A>G	SNV Germline	Chr22:20993922	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Cardiovascular phenotype LZTR1-related schwannomatosis Condition: not provided	Criteria Provided Conflicting Classifications	CA10118857	rs_772714594	4 SubmittersRCV002383315 RCV003465717 RCV003146555
NM_006767.4(LZTR1):c.1360G>T (p.Glu454Ter)	SNV Germline	Chr22:20993930	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Cardiovascular phenotype LZTR1-related schwannomatosis	Criteria Provided Multiple Submitters No Conflicts	CA410774994	rs_771525633	2 SubmittersRCV002383490 RCV004572410
NM_006767.4(LZTR1):c.994-1G>A	SNV Germline	Chr22:20992213	Likely pathogenic	Hereditary cancer-predisposing syndrome Cardiovascular phenotype LZTR1-related schwannomatosis Condition: not provided LZTR1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA410781712	rs_758238174	4 SubmittersRCV002382902 RCV003464505 RCV003730160 RCV004534077
NM_006767.4(LZTR1):c.1462G>T (p.Glu488Ter)	SNV Germline	Chr22:20994116	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Cardiovascular phenotype Condition: not provided LZTR1-related schwannomatosis	Criteria Provided Multiple Submitters No Conflicts	CA410775484	rs_1385691888	3 SubmittersRCV002396764 RCV003561011 RCV003465723
NM_006767.4(LZTR1):c.1466C>G (p.Ala489Gly)	SNV Germline	Chr22:20994120	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Cardiovascular phenotype LZTR1-related schwannomatosis	Criteria Provided Conflicting Classifications	CA410775504	rs_1327762745	2 SubmittersRCV002396834 RCV003465724
NM_006767.4(LZTR1):c.1031C>A (p.Ser344Tyr)	SNV Germline	Chr22:20992251	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Cardiovascular phenotype LZTR1-related schwannomatosis Condition: not provided	Criteria Provided Conflicting Classifications	CA410781830	rs_1924632209	3 SubmittersRCV002381107 RCV003465718 RCV005097483
NM_006767.4(LZTR1):c.1616-1G>A	SNV Germline	Chr22:20994557	Likely pathogenic	Hereditary cancer-predisposing syndrome Cardiovascular phenotype Condition: not provided LZTR1-related schwannomatosis	Criteria Provided Multiple Submitters No Conflicts	CA410776431	rs_777908919	3 SubmittersRCV002400971 RCV003097009 RCV003464528
NM_006767.4(LZTR1):c.2269C>T (p.Gln757Ter)	SNV Germline	Chr22:20996745	Pathogenic	Cardiovascular phenotype Hereditary cancer-predisposing syndrome LZTR1-related schwannomatosis Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA10119326	rs_774123273	4 SubmittersRCV002443841 RCV003151409 RCV003098765
NM_006767.4(LZTR1):c.201-1G>A	SNV Germline	Chr22:20983026	Conflicting classifications of pathogenicity	Cardiovascular phenotype Hereditary cancer-predisposing syndrome LZTR1-related schwannomatosis	Criteria Provided Conflicting Classifications	CA410778239	rs_2518608539	2 SubmittersRCV002417366 RCV003464542
NM_006767.4(LZTR1):c.401-1G>A	SNV Germline	Chr22:20988009	Pathogenic/Likely pathogenic	LZTR1-related schwannomatosis Noonan syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA10118431	rs_747225246	3 SubmittersRCV002466951 RCV003336763 RCV005058870
NM_006767.4(LZTR1):c.1702C>T (p.Gln568Ter)	SNV Germline	Chr22:20994644	Pathogenic/Likely pathogenic	Condition: not provided LZTR1-related schwannomatosis	Criteria Provided Multiple Submitters No Conflicts	CA410777893	rs_1924756229	3 SubmittersRCV002467071 RCV003464566
NM_006767.4(LZTR1):c.651+1G>A	SNV Germline	Chr22:20989683	Likely pathogenic	LZTR1-related schwannomatosis Cardiovascular phenotype Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA410780396	rs_1450044732	3 SubmittersRCV002471321 RCV003164738 RCV003720645
NM_006767.4(LZTR1):c.1942+2T>C	SNV Germline	Chr22:20995028	Likely pathogenic	Condition: not provided Cardiovascular phenotype Hereditary cancer-predisposing syndrome LZTR1-related schwannomatosis	Criteria Provided Multiple Submitters No Conflicts	CA10119111	rs_752489470	4 SubmittersRCV002599490 RCV004560053 RCV004572790
NM_006767.4(LZTR1):c.200+1G>C	SNV Germline	Chr22:20982572	Likely pathogenic	Condition: not provided LZTR1-related schwannomatosis Noonan syndrome 10 Hereditary cancer-predisposing syndrome Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA410778203	rs_1216738448	4 SubmittersRCV002785496 RCV003475419 RCV004786744 RCV004990860
NM_006767.4(LZTR1):c.1149+1G>T	SNV Germline	Chr22:20992370	Likely pathogenic	Condition: not provided Cardiovascular phenotype Hereditary cancer-predisposing syndrome LZTR1-related schwannomatosis RASopathy	Reviewed By Expert Panel	CA10118733	rs_767191322	4 SubmittersRCV002994987 RCV003170797 RCV003464647 RCV005401994
NM_006767.4(LZTR1):c.200+2T>C	SNV Germline	Chr22:20982573	Likely pathogenic	Condition: not provided LZTR1-related schwannomatosis Cardiovascular phenotype Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA410778209	rs_573971763	4 SubmittersRCV003147132 RCV004572858 RCV004992577
NM_006767.4(LZTR1):c.401-5C>G	SNV Germline	Chr22:20988005	Conflicting classifications of pathogenicity	Condition: not provided Cardiovascular phenotype Hereditary cancer-predisposing syndrome Noonan syndrome 10 Noonan syndrome 2 LZTR1-related schwannomatosis LZTR1-related schwannomatosis	Criteria Provided Conflicting Classifications	CA638554205	rs_1199776016	4 SubmittersRCV003730426 RCV003172165 RCV005029928 RCV003466033
NM_006767.4(LZTR1):c.985G>A (p.Asp329Asn)	SNV Germline	Chr22:20991821	Conflicting classifications of pathogenicity	Cardiovascular phenotype Hereditary cancer-predisposing syndrome LZTR1-related schwannomatosis Condition: not provided LZTR1-related disorder	Criteria Provided Conflicting Classifications	CA10118675	rs_771851532	5 SubmittersRCV003216357 RCV003459803 RCV003561235 RCV004736326
NM_006767.4(LZTR1):c.2073C>G (p.Tyr691Ter)	SNV Germline	Chr22:20995966	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Cardiovascular phenotype LZTR1-related schwannomatosis Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA10119235	rs_773774069	3 SubmittersRCV003216358 RCV003466040 RCV003549022
NM_003073.5(SMARCB1):c.1118+2T>C	SNV Germline	Chr22:23833705	Pathogenic	SMARCB1-related schwannomatosis	Criteria Provided Single Submitter	CA410914205	rs_2146042856	1 SubmittersRCV003228217
NM_006767.4(LZTR1):c.2325+1G>A	SNV Germline	Chr22:20996802	Pathogenic	LZTR1-related schwannomatosis Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA410780952	rs_1263566071	3 SubmittersRCV003466056 RCV003319123
NM_006767.4(LZTR1):c.1615+2T>C	SNV Germline	Chr22:20994271	Pathogenic/Likely pathogenic	LZTR1-related schwannomatosis LZTR1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA410776306	rs_1180748005	2 SubmittersRCV003459855 RCV004529820
NM_000268.4(NF2):c.1340+1G>C	SNV Unknown	Chr22:29673487	Likely pathogenic	SMARCB1-related schwannomatosis	Criteria Provided Single Submitter	CA411148746	rs_2147084279	1 SubmittersRCV003448541
NM_006767.4(LZTR1):c.264-1G>A	SNV Germline	Chr22:20985840	Likely pathogenic	LZTR1-related schwannomatosis Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA410778765	rs_2518610578	2 SubmittersRCV003470011 RCV003779048
NM_006767.4(LZTR1):c.1449+2T>G	SNV Germline	Chr22:20994021	Likely pathogenic	LZTR1-related schwannomatosis Hereditary cancer-predisposing syndrome Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA322268972	rs_1036772752	2 SubmittersRCV003470013 RCV004560177
NM_006767.4(LZTR1):c.1777C>T (p.Gln593Ter)	SNV Unknown	Chr22:20994719	Likely pathogenic	LZTR1-related schwannomatosis	Criteria Provided Single Submitter	CA410778342	rs_1924761523	1 SubmittersRCV003470017
NM_006767.4(LZTR1):c.2069+1G>A	SNV Germline	Chr22:20995873	Likely pathogenic	LZTR1-related schwannomatosis Condition: not provided Hereditary cancer-predisposing syndrome Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA410779172	rs_200472467	3 SubmittersRCV003470023 RCV003779050 RCV005439133
NM_006767.4(LZTR1):c.401-2A>C	SNV Germline	Chr22:20988008	Likely pathogenic	LZTR1-related schwannomatosis Hereditary cancer-predisposing syndrome Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA410779555	rs_1222197005	2 SubmittersRCV003470027 RCV004992610
NM_006767.4(LZTR1):c.263+3G>C	SNV Unknown	Chr22:20983092	Likely pathogenic	LZTR1-related schwannomatosis	Criteria Provided Single Submitter	CA2396636202	rs_1924258957	1 SubmittersRCV003461821
NM_006767.4(LZTR1):c.1365C>A (p.Cys455Ter)	SNV Germline	Chr22:20993935	Pathogenic/Likely pathogenic	LZTR1-related schwannomatosis Condition: not provided Hereditary cancer-predisposing syndrome Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA410775018	rs_1386837360	3 SubmittersRCV003470033 RCV005100179 RCV004560182
NM_006767.4(LZTR1):c.994-2A>T	SNV Germline	Chr22:20992212	Likely pathogenic	Condition: not provided LZTR1-related schwannomatosis	Criteria Provided Multiple Submitters No Conflicts	CA410781708	rs_752600682	3 SubmittersRCV003845562 RCV004573357
NM_006767.4(LZTR1):c.510-6C>G	SNV Germline	Chr22:20988783	Conflicting classifications of pathogenicity	Condition: not provided Noonan syndrome 2 LZTR1-related schwannomatosis Noonan syndrome 10 Cardiovascular phenotype Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA2524898334	rs_2518614015	3 SubmittersRCV003874270 RCV005038613 RCV004992932
NM_006767.4(LZTR1):c.495G>A (p.Trp165Ter)	SNV Germline	Chr22:20988104	Pathogenic	Emery-Dreifuss muscular dystrophy Schwannomatosis Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA410779918	rs_2147962064	2 SubmittersRCV004527095 RCV004579633 RCV005100809
NM_006767.4(LZTR1):c.1900C>T (p.Gln634Ter)	SNV Germline	Chr22:20994984	Pathogenic/Likely pathogenic	LZTR1-related schwannomatosis Cardiovascular phenotype Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_144711904	3 SubmittersRCV004576835 RCV004994438 RCV005059559
NM_006767.4(LZTR1):c.400+2T>G	SNV Unknown	Chr22:20987585	Likely pathogenic	LZTR1-related schwannomatosis	Criteria Provided Single Submitter		rs_2518612609	1 SubmittersRCV004576842
NM_006767.4(LZTR1):c.104C>A (p.Ser35Ter)	SNV Germline	Chr22:20982475	Likely pathogenic	Condition: not provided LZTR1-related schwannomatosis Noonan syndrome 10 Noonan syndrome 2	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV004784560 RCV005023712
NM_006767.4(LZTR1):c.855C>A (p.Tyr285Ter)	SNV Germline	Chr22:20991691	Pathogenic/Likely pathogenic	Noonan syndrome 2 LZTR1-related schwannomatosis Noonan syndrome 10 Hereditary cancer-predisposing syndrome Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV004795631 RCV004994475
NM_006767.4(LZTR1):c.208A>T (p.Lys70Ter)	SNV Germline	Chr22:20983034	Likely pathogenic	LZTR1-related schwannomatosis	Criteria Provided Single Submitter			1 SubmittersRCV005362090

NM_003073.5(SMARCB1):c.34C>T (p.Gln12Ter)

SNV
Germline

Chr22:23787203

Pathogenic

SMARCB1-related schwannomatosis
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA119228

rs_74315513

3 SubmittersRCV000008490 RCV003278655 RCV003555975

NM_003073.5(SMARCB1):c.544C>T (p.Gln182Ter)

SNV
Somatic

Chr22:23803338

Pathogenic

Schwannomatosis 1, somatic

No Assertion Criteria Provided

CA119231

rs_121434496

1 SubmittersRCV000008491

NM_003073.5(SMARCB1):c.92A>T (p.Glu31Val)

SNV
Germline

Chr22:23787261

Conflicting classifications of pathogenicity

SMARCB1-related schwannomatosis
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA119236

rs_267607072

4 SubmittersRCV000008496 RCV003231093 RCV004948133

NM_006767.4(LZTR1):c.264-13G>A

SNV
Germline

Chr22:20985828

Conflicting classifications of pathogenicity

LZTR1-related schwannomatosis
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
Noonan syndrome 2
Noonan syndrome 10
LZTR1-related schwannomatosis
Schwannomatosis
Noonan syndrome 2
Condition: not provided
Developmental disorder

Criteria Provided
Conflicting Classifications

CA150700

rs_587777176

14 SubmittersRCV000087292 RCV002426650 RCV002498472 RCV004700409 RCV004786368 RCV001291541 RCV003126498

NM_006767.4(LZTR1):c.365C>T (p.Ser122Leu)

SNV
Germline

Chr22:20987548

Conflicting classifications of pathogenicity

LZTR1-related schwannomatosis
Condition: not provided
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome
Schwannomatosis
LZTR1-related disorder
Noonan syndrome 10

Criteria Provided
Conflicting Classifications

CA150701

rs_587777177

10 SubmittersRCV000087293 RCV001200448 RCV002453416 RCV003315228 RCV004529907 RCV004786369

NM_006767.4(LZTR1):c.2062C>T (p.Arg688Cys)

SNV
Germline

Chr22:20995865

Conflicting classifications of pathogenicity

LZTR1-related schwannomatosis
Condition: not provided
LZTR1-related disorder
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome
Diffuse midline glioma, H3 K27-altered
Schwannomatosis
LZTR1-related schwannomatosis
Noonan syndrome 10
Noonan syndrome 2

Criteria Provided
Conflicting Classifications

CA150702

rs_587777178

11 SubmittersRCV000087294 RCV001055087 RCV004529908 RCV002415585 RCV004776273 RCV005237537 RCV005025171

NM_006767.4(LZTR1):c.1397G>A (p.Arg466Gln)

SNV
Germline

Chr22:20993967

Pathogenic/Likely pathogenic

LZTR1-related schwannomatosis
Schwannomatosis
Noonan syndrome and Noonan-related syndrome
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome
Condition: not provided
LZTR1-related schwannomatosis
Noonan syndrome 10
Noonan syndrome 2
Noonan syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA150704

rs_587777180

11 SubmittersRCV000087296 RCV001260384 RCV001813376 RCV002390252 RCV001312780 RCV005031596 RCV004815183

NM_003073.5(SMARCB1):c.1A>G (p.Met1Val)

SNV
Germline

Chr22:23787170

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Rhabdoid tumor predisposition syndrome 1
SMARCB1-related schwannomatosis
SMARCB1-related schwannomatosis
Intellectual disability, autosomal dominant 15
Rhabdoid tumor predisposition syndrome 1

Criteria Provided
Conflicting Classifications

CA162159

rs_367768260

7 SubmittersRCV000122071 RCV000563927 RCV000456257 RCV001150088 RCV001150089 RCV005394436

NM_006767.4(LZTR1):c.742G>A (p.Gly248Arg)

SNV
Germline

Chr22:20990476

Likely pathogenic

Noonan syndrome 10
Condition: not provided
Noonan syndrome 10
LZTR1-related schwannomatosis
Fetal cystic hygroma
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
RASopathy
Noonan syndrome 1
LZTR1-related schwannomatosis
LZTR1-related disorder
Noonan syndrome

Reviewed By Expert Panel

CA358852

rs_869320686

27 SubmittersRCV000191027 RCV000413889 RCV000763072 RCV001526613 RCV002381647 RCV004576927 RCV004698786 RCV003988835 RCV004734846 RCV005625421

NM_006767.4(LZTR1):c.850C>T (p.Arg284Cys)

SNV
Germline

Chr22:20991686

Likely pathogenic

Noonan syndrome 10
Condition: not provided
LZTR1-related schwannomatosis
Noonan syndrome 10
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
LZTR1-related disorder
LZTR1-related schwannomatosis
Noonan syndrome 10
Noonan syndrome 2
RASopathy

Reviewed By Expert Panel

CA204980

rs_797045165

12 SubmittersRCV000191028 RCV000658480 RCV000763073 RCV002444774 RCV004530087 RCV004796089 RCV005401377

NM_003073.5(SMARCB1):c.*82C>T

SNV
Germline

Chr22:23834262

Pathogenic/Likely pathogenic

Condition: not provided
Peripheral schwannoma
Schwannoma
SMARCB1-related schwannomatosis
Coffin-Siris syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10583893

rs_878854600

6 SubmittersRCV000231611 RCV000626834 RCV000656363 RCV005365185 RCV003298297

NM_006767.4(LZTR1):c.1396C>T (p.Arg466Trp)

SNV
Germline

Chr22:20993966

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
LZTR1-related schwannomatosis
Noonan syndrome 10
LZTR1-related disorder
LZTR1-related schwannomatosis
Noonan syndrome 10
Noonan syndrome 2
Noonan syndrome 2

Criteria Provided
Conflicting Classifications

CA10118872

rs_550922200

11 SubmittersRCV000355063 RCV002392792 RCV003236580 RCV005055101 RCV004535249 RCV005025413 RCV005238816

NM_006767.4(LZTR1):c.1084C>T (p.Arg362Ter)

SNV
Germline

Chr22:20992304

Likely pathogenic

Condition: not provided
Noonan syndrome 2
LZTR1-related schwannomatosis
Noonan syndrome and Noonan-related syndrome
See cases
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome
Short stature
Noonan syndrome 10
LZTR1-related schwannomatosis
Noonan syndrome 10
Schwannomatosis
Hereditary cancer-predisposing syndrome
RASopathy
Noonan syndrome 2
Noonan syndrome 10
LZTR1-related schwannomatosis

Reviewed By Expert Panel

CA10118715

rs_189150283

17 SubmittersRCV000329167 RCV001706423 RCV001799649 RCV001813447 RCV002252087 RCV002429235 RCV000736158 RCV000763074 RCV003387519 RCV001193024 RCV005600896 RCV004732473 RCV005033851

NM_003073.5(SMARCB1):c.723C>T (p.Ile241=)

SNV
Germline

Chr22:23816864

Conflicting classifications of pathogenicity

Coffin-Siris syndrome
Schwannomatosis
Rhabdoid tumor predisposition syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10146036

rs_752910574

3 SubmittersRCV000269507 RCV000308154 RCV000365158 RCV000572980 RCV001417685

NM_000268.4(NF2):c.*359G>A

SNV
Germline

Chr22:29695161

Conflicting classifications of pathogenicity

Neurofibromatosis, type 2
Condition: not provided
Familial meningioma
Neurofibromatosis, type 2
SMARCB1-related schwannomatosis

Criteria Provided
Conflicting Classifications

CA10645249

rs_572307337

3 SubmittersRCV000307146 RCV003221940 RCV002488733

NM_003073.5(SMARCB1):c.987-4G>C

SNV
Germline

Chr22:23833568

Conflicting classifications of pathogenicity

Rhabdoid tumor predisposition syndrome 1
SMARCB1-related schwannomatosis
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10650931

rs_745773662

4 SubmittersRCV000334169 RCV000372477 RCV001487925 RCV002257649

NM_003073.5(SMARCB1):c.607G>A (p.Ala203Thr)

SNV
Germline

Chr22:23803401

Conflicting classifications of pathogenicity

SMARCB1-related schwannomatosis
Rhabdoid tumor predisposition syndrome 1
Condition: not provided
Rhabdoid tumor predisposition syndrome 2
Hereditary cancer-predisposing syndrome
Rhabdoid tumor predisposition syndrome 1
SMARCB1-related schwannomatosis
Intellectual disability, autosomal dominant 15

Criteria Provided
Conflicting Classifications

CA10145992

rs_762962010

6 SubmittersRCV000299341 RCV000337956 RCV000559614 RCV001789772 RCV001024873 RCV005027439

NM_003073.5(SMARCB1):c.628+13C>T

SNV
Germline

Chr22:23803435

Conflicting classifications of pathogenicity

SMARCB1-related schwannomatosis
not specified
Rhabdoid tumor predisposition syndrome 1
Condition: not provided
Intellectual disability, autosomal dominant 15
Hereditary cancer-predisposing syndrome
Coffin-Siris syndrome

Criteria Provided
Conflicting Classifications

CA10145998

rs_184021903

12 SubmittersRCV000361783 RCV000431220 RCV000407869 RCV001528356 RCV001335092 RCV002255370 RCV005365254

NM_003073.5(SMARCB1):c.*17C>T

SNV
Germline

Chr22:23834197

Conflicting classifications of pathogenicity

SMARCB1-related schwannomatosis
Rhabdoid tumor predisposition syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10146137

rs_372348692

3 SubmittersRCV000286295 RCV000391464 RCV003311770

NM_003073.5(SMARCB1):c.158G>T (p.Arg53Leu)

SNV
Germline

Chr22:23791820

Pathogenic/Likely pathogenic

Condition: not provided
SMARCB1-related schwannomatosis
Hereditary cancer-predisposing syndrome
SMARCB1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA16616285

rs_779769475

5 SubmittersRCV000490024 RCV000785603 RCV002402285 RCV004740242

NM_003073.5(SMARCB1):c.444C>T (p.Ser148=)

SNV
Germline

Chr22:23801025

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
SMARCB1-related schwannomatosis
SMARCB1-related disorder

Criteria Provided
Conflicting Classifications

CA10145918

rs_138184483

6 SubmittersRCV000568751 RCV000592528 RCV005235343 RCV004551567

NM_006767.4(LZTR1):c.509G>A (p.Arg170Gln)

SNV
Germline

Chr22:20988118

Pathogenic/Likely pathogenic

Condition: not provided
LZTR1-related schwannomatosis
LZTR1-related disorder
Male infertility with azoospermia or oligozoospermia due to single gene mutation
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome
Noonan syndrome 10

Criteria Provided
Multiple Submitters
No Conflicts

CA10118451

rs_781431741

8 SubmittersRCV000482299 RCV001542701 RCV004541521 RCV003991579 RCV002341137 RCV004722819

NM_006767.4(LZTR1):c.2387T>C (p.Ile796Thr)

SNV
Germline

Chr22:20996947

Conflicting classifications of pathogenicity

Condition: not provided
Noonan syndrome 2
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome
LZTR1-related schwannomatosis
Noonan syndrome 2
LZTR1-related schwannomatosis
Noonan syndrome 10
Noonan syndrome 10

Criteria Provided
Conflicting Classifications

CA10119384

rs_141672122

9 SubmittersRCV000481440 RCV001507320 RCV002455940 RCV003470588 RCV005027560 RCV005055119

NM_006767.4(LZTR1):c.1904C>T (p.Pro635Leu)

SNV
Germline

Chr22:20994988

Conflicting classifications of pathogenicity

Noonan syndrome 10
Condition: not provided
not specified
LZTR1-related schwannomatosis
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome
LZTR1-related disorder

Criteria Provided
Conflicting Classifications

CA10119101

rs_148677674

8 SubmittersRCV000499922 RCV001454598 RCV001584206 RCV003494569 RCV002413371 RCV004535572

NM_006767.4(LZTR1):c.59C>T (p.Ala20Val)

SNV
Germline

Chr22:20982430

Conflicting classifications of pathogenicity

Condition: not provided
Noonan syndrome 10
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome
LZTR1-related schwannomatosis

Criteria Provided
Conflicting Classifications

CA10118278

rs_770762358

4 SubmittersRCV000523878 RCV001788275 RCV002358417 RCV004568673

NM_006767.4(LZTR1):c.1149+1G>A

SNV
Germline

Chr22:20992370

Likely pathogenic

Condition: not provided
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome
LZTR1-related schwannomatosis
Noonan syndrome 2
Noonan syndrome 10
LZTR1-related schwannomatosis
RASopathy

Reviewed By Expert Panel

CA322328053

rs_767191322

9 SubmittersRCV000522778 RCV002456013 RCV004568672 RCV005034074 RCV005401478

NM_000268.4(NF2):c.1701C>G (p.Asp567Glu)

SNV
Germline

Chr22:29681565

Conflicting classifications of pathogenicity

Neurofibromatosis, type 2
SMARCB1-related schwannomatosis
Familial meningioma
Neurofibromatosis, type 2
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10175568

rs_1049732514

5 SubmittersRCV000557509 RCV000765631 RCV001012778

NM_006767.4(LZTR1):c.1018C>T (p.Arg340Ter)

SNV
Germline

Chr22:20992238

Pathogenic/Likely pathogenic

Condition: not provided
Noonan syndrome 10
LZTR1-related schwannomatosis
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
Schwannomatosis

Criteria Provided
Multiple Submitters
No Conflicts

CA10118698

rs_149850248

15 SubmittersRCV000578630 RCV001293930 RCV001310194 RCV002358639 RCV004767415

NM_006767.4(LZTR1):c.400+1G>C

SNV
Germline

Chr22:20987584

Likely pathogenic

Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
Condition: not provided
Schwannomatosis

Criteria Provided
Multiple Submitters
No Conflicts

CA410779488

rs_1555927561

3 SubmittersRCV004559255 RCV001855308 RCV004767447

NM_006767.4(LZTR1):c.1943-256C>T

SNV
Germline

Chr22:20995490

Pathogenic

Noonan syndrome 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
Noonan syndrome
LZTR1-related schwannomatosis
RASopathy

Reviewed By Expert Panel

CA10119150

rs_761685529

11 SubmittersRCV000735432 RCV000681140 RCV002413779 RCV003336096 RCV003465362 RCV005401538

NM_003073.5(SMARCB1):c.309C>T (p.Asn103=)

SNV
Germline

Chr22:23793635

Conflicting classifications of pathogenicity

Condition: not provided
Rhabdoid tumor predisposition syndrome 1
SMARCB1-related schwannomatosis
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA322596933

rs_145695677

4 SubmittersRCV000639928 RCV001143956 RCV001143957 RCV002325244

NM_000268.4(NF2):c.1232G>A (p.Arg411His)

SNV
Germline

Chr22:29673378

Conflicting classifications of pathogenicity

Neurofibromatosis, type 2
Familial meningioma
Neurofibromatosis, type 2
SMARCB1-related schwannomatosis
Hereditary cancer-predisposing syndrome
Familial meningioma
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA037304

rs_201214090

7 SubmittersRCV000632640 RCV000765629 RCV001010465 RCV001198705 RCV001249076 RCV004723000

NM_006767.4(LZTR1):c.1785+1G>A

SNV
Germline

Chr22:20994728

Pathogenic/Likely pathogenic

Condition: not provided
LZTR1-related schwannomatosis
Noonan syndrome 2
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA10119055

rs_145594158

7 SubmittersRCV000658061 RCV001788313 RCV002248854 RCV002406499

NM_006767.4(LZTR1):c.-38T>A

SNV
Germline

Chr22:20982334

Conflicting classifications of pathogenicity

Noonan syndrome 2
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
Condition: not provided
Noonan syndrome 2
Noonan syndrome 10
Noonan syndrome 2
LZTR1-related schwannomatosis
Noonan syndrome 10
LZTR1-related schwannomatosis
Noonan syndrome

Criteria Provided
Conflicting Classifications

CA638942431

rs_1459786357

7 SubmittersRCV000754921 RCV002360688 RCV002462004 RCV002245073 RCV002499144 RCV003465433 RCV005357885

NM_006767.4(LZTR1):c.1311G>A (p.Trp437Ter)

SNV
Germline

Chr22:20993712

Pathogenic

Noonan syndrome 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
LZTR1-related schwannomatosis

Criteria Provided
Multiple Submitters
No Conflicts

CA10118811

rs_770933647

4 SubmittersRCV000754920 RCV001855426 RCV002386139 RCV004568485

NM_006767.4(LZTR1):c.649G>T (p.Glu217Ter)

SNV
Germline

Chr22:20989680

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
LZTR1-related schwannomatosis
Noonan syndrome 10
Noonan syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA410780389

rs_1302923931

3 SubmittersRCV000681412 RCV002360709 RCV005027835

NM_006767.4(LZTR1):c.848G>A (p.Arg283Gln)

SNV
Germline

Chr22:20991684

Likely pathogenic

Condition: not provided
Noonan syndrome 10
Noonan syndrome and Noonan-related syndrome
RASopathy
Noonan syndrome 1
Male infertility with azoospermia or oligozoospermia due to single gene mutation
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome
LZTR1-related disorder
LZTR1-related schwannomatosis

Reviewed By Expert Panel

CA410781238

rs_1223430276

17 SubmittersRCV000681082 RCV000761304 RCV001813545 RCV002233108 RCV003151134 RCV003991581 RCV004993935 RCV004535698 RCV004568578

NM_006767.4(LZTR1):c.1855C>T (p.Arg619Cys)

SNV
Germline

Chr22:20994939

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
Noonan syndrome 10
Noonan syndrome 2
See cases
Noonan syndrome 10
LZTR1-related schwannomatosis

Criteria Provided
Conflicting Classifications

CA10119089

rs_373488966

8 SubmittersRCV000681434 RCV002406527 RCV004559347 RCV004584403 RCV004788107 RCV004568579

NM_006767.4(LZTR1):c.1901A>C (p.Gln634Pro)

SNV
Germline

Chr22:20994985

Conflicting classifications of pathogenicity

Condition: not provided
LZTR1-related schwannomatosis
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA10119100

rs_770312150

5 SubmittersRCV000681112 RCV003459657 RCV002406522 RCV003323682

NM_006767.4(LZTR1):c.2002G>T (p.Asp668Tyr)

SNV
Germline

Chr22:20995805

Conflicting classifications of pathogenicity

Condition: not provided
LZTR1-related schwannomatosis
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10119195

rs_776005012

4 SubmittersRCV000680839 RCV003459656 RCV002422461

NM_000268.4(NF2):c.215T>C (p.Val72Ala)

SNV
Germline

Chr22:29636851

Conflicting classifications of pathogenicity

Neurofibromatosis, type 2
Hereditary cancer-predisposing syndrome
Neurofibromatosis, type 2
SMARCB1-related schwannomatosis
Familial meningioma
Neurofibromatosis, type 2
Familial meningioma
Condition: not provided
Familial meningioma

Criteria Provided
Conflicting Classifications

CA411152626

rs_1260510937

11 SubmittersRCV000689963 RCV001014488 RCV000765628 RCV005027851 RCV003424281 RCV003465572

NM_000268.4(NF2):c.1619A>G (p.Asn540Ser)

SNV
Germline

Chr22:29681483

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Neurofibromatosis, type 2
Neurofibromatosis, type 2
Familial meningioma
SMARCB1-related schwannomatosis

Criteria Provided
Conflicting Classifications

CA032390

rs_774824164

6 SubmittersRCV001012452 RCV000685036 RCV000765630

NM_003073.5(SMARCB1):c.790A>G (p.Ile264Val)

SNV
Germline

Chr22:23816931

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
SMARCB1-related schwannomatosis
Rhabdoid tumor predisposition syndrome 1
Intellectual disability, autosomal dominant 15

Criteria Provided
Conflicting Classifications

CA322568020

rs_887245809

3 SubmittersRCV000704305 RCV002422590 RCV005027875

NM_006767.4(LZTR1):c.2220-17C>A

SNV
Germline

Chr22:20996679

Likely pathogenic

Noonan syndrome 2
LZTR1-related schwannomatosis
Noonan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA638942602

rs_1249726034

3 SubmittersRCV000735430 RCV003465672 RCV005357978

NM_006767.4(LZTR1):c.628C>T (p.Arg210Ter)

SNV
Germline

Chr22:20989659

Pathogenic

Noonan syndrome 2
LZTR1-related schwannomatosis
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
Condition: not provided
Noonan syndrome 10
LZTR1-related disorder
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10118525

rs_150419186

14 SubmittersRCV000735431 RCV002290002 RCV002360863 RCV000760481 RCV001330297 RCV004535887 RCV005601092

NM_006767.4(LZTR1):c.1394C>T (p.Ala465Val)

SNV
Germline

Chr22:20993964

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
LZTR1-related schwannomatosis
Noonan syndrome 10
Noonan syndrome 2
not specified

Criteria Provided
Conflicting Classifications

CA10118870

rs_753757778

7 SubmittersRCV000762050 RCV002388385 RCV005392357 RCV005436049

NM_006767.4(LZTR1):c.486G>A (p.Trp162Ter)

SNV
Germline

Chr22:20988095

Pathogenic

LZTR1-related schwannomatosis
Condition: not provided
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA410779891

rs_1569154722

3 SubmittersRCV000785628 RCV001380282 RCV005372430

NM_006767.4(LZTR1):c.2462T>C (p.Ile821Thr)

SNV
Germline

Chr22:20997287

Conflicting classifications of pathogenicity

Noonan syndrome 2
Condition: not provided
LZTR1-related disorder
LZTR1-related schwannomatosis
Noonan syndrome 1
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA410781711

rs_1275511136

8 SubmittersRCV000787273 RCV003133592 RCV004535916 RCV003989603 RCV004698789 RCV004559650

NM_006767.4(LZTR1):c.1665G>A (p.Leu555=)

SNV
Germline

Chr22:20994607

Conflicting classifications of pathogenicity

Condition: not provided
Noonan syndrome 2
Noonan syndrome 10
LZTR1-related schwannomatosis
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10119018

rs_760948342

3 SubmittersRCV000975934 RCV005392606 RCV005520379

NM_006767.4(LZTR1):c.856G>A (p.Gly286Arg)

SNV
Germline

Chr22:20991692

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Hereditary cancer-predisposing syndrome
Condition: not provided
LZTR1-related schwannomatosis

Criteria Provided
Conflicting Classifications

CA10118653

rs_773016962

4 SubmittersRCV002447879 RCV003099974 RCV003471364

NM_006767.4(LZTR1):c.2407-2A>G

SNV
Germline

Chr22:20997230

Conflicting classifications of pathogenicity

Condition: not provided
Noonan syndrome 2
LZTR1-related schwannomatosis
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA410781431

rs_1158550690

9 SubmittersRCV000997883 RCV001291825 RCV003227886 RCV002454247

NM_003073.5(SMARCB1):c.568C>T (p.Arg190Trp)

SNV
Germline

Chr22:23803362

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
SMARCB1-related schwannomatosis
Condition: not provided
Autism spectrum disorder

Criteria Provided
Conflicting Classifications

CA410935796

rs_1601405064

4 SubmittersRCV001024411 RCV001195823 RCV001365280 RCV003127587

NM_006767.4(LZTR1):c.22G>T (p.Gly8Trp)

SNV
Germline

Chr22:20982393

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome
LZTR1-related schwannomatosis

Criteria Provided
Conflicting Classifications

CA10118266

rs_575193991

3 SubmittersRCV001065942 RCV002429718 RCV003467830

NM_006767.4(LZTR1):c.1856G>A (p.Arg619His)

SNV
Germline

Chr22:20994940

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
LZTR1-related schwannomatosis

Criteria Provided
Conflicting Classifications

CA10119090

rs_568213908

4 SubmittersRCV001060885 RCV002411569 RCV003462586

NM_006767.4(LZTR1):c.791+1G>A

SNV
Germline

Chr22:20990526

Pathogenic/Likely pathogenic

Condition: not provided
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome
LZTR1-related schwannomatosis
Schwannomatosis

Criteria Provided
Multiple Submitters
No Conflicts

CA10118614

rs_148031742

7 SubmittersRCV001092753 RCV002418577 RCV003469290 RCV004587044

NM_003073.5(SMARCB1):c.633G>A (p.Lys211=)

SNV
Germline

Chr22:23816774

Conflicting classifications of pathogenicity

SMARCB1-related schwannomatosis
Rhabdoid tumor predisposition syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA513737163

rs_1930218305

2 SubmittersRCV001145856 RCV001145857 RCV002559409

NM_006767.4(LZTR1):c.1939A>G (p.Ile647Val)

SNV
Germline

Chr22:20995023

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
LZTR1-related schwannomatosis

Criteria Provided
Conflicting Classifications

CA10119107

rs_148916790

5 SubmittersRCV001193626 RCV001773446 RCV002411728 RCV003469308

NM_006767.4(LZTR1):c.23G>C (p.Gly8Ala)

SNV
Germline

Chr22:20982394

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
Condition: not provided
LZTR1-related schwannomatosis

Criteria Provided
Conflicting Classifications

CA10118268

rs_764439278

5 SubmittersRCV001201227 RCV002447045 RCV001859216 RCV003469318

NM_006767.4(LZTR1):c.981C>G (p.Ser327Arg)

SNV
Germline

Chr22:20991817

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome
LZTR1-related schwannomatosis

Criteria Provided
Conflicting Classifications

CA10118673

rs_778587887

3 SubmittersRCV001205124 RCV002375136 RCV004570435

NM_006767.4(LZTR1):c.1794C>A (p.Cys598Ter)

SNV
Germline

Chr22:20994878

Pathogenic/Likely pathogenic

Condition: not provided
LZTR1-related schwannomatosis
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA322270032

rs_982944299

4 SubmittersRCV001202111 RCV003469321 RCV002402575

NM_006767.4(LZTR1):c.993+1G>A

SNV
Germline

Chr22:20991830

Pathogenic

Noonan syndrome 2
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome
LZTR1-related schwannomatosis
Condition: not provided
RASopathy
not specified

Reviewed By Expert Panel

CA410781684

rs_770368435

8 SubmittersRCV001250472 RCV002379954 RCV003462828 RCV001379899 RCV005401816 RCV005414274

NM_006767.4(LZTR1):c.1085G>A (p.Arg362Gln)

SNV
Germline

Chr22:20992305

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
LZTR1-related schwannomatosis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10118716

rs_745476291

4 SubmittersRCV001251317 RCV002430053 RCV004570642 RCV003698851

NM_006767.4(LZTR1):c.652-10C>A

SNV
Germline

Chr22:20990376

Conflicting classifications of pathogenicity

not specified
Condition: not provided
LZTR1-related schwannomatosis

Criteria Provided
Conflicting Classifications

CA10118579

rs_200169897

5 SubmittersRCV001260420 RCV001519192 RCV005360003

NM_006767.4(LZTR1):c.1517C>T (p.Pro506Leu)

SNV
Germline

Chr22:20994171

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
Condition: not provided
LZTR1-related schwannomatosis

Criteria Provided
Conflicting Classifications

CA10118926

rs_763950976

4 SubmittersRCV001269181 RCV002393680 RCV002537711 RCV003462848

NM_006767.4(LZTR1):c.1531G>A (p.Val511Met)

SNV
Germline

Chr22:20994185

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
LZTR1-related disorder
Noonan syndrome 2
LZTR1-related schwannomatosis
Noonan syndrome 10

Criteria Provided
Conflicting Classifications

CA10118930

rs_200062851

7 SubmittersRCV001280664 RCV001664796 RCV002393683 RCV004734089 RCV005438967

NM_006767.4(LZTR1):c.2317G>A (p.Val773Met)

SNV
Germline

Chr22:20996793

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
LZTR1-related schwannomatosis
LZTR1-related disorder
Noonan syndrome 2

Criteria Provided
Conflicting Classifications

CA10119341

rs_199586863

10 SubmittersRCV001280937 RCV001871623 RCV002447250 RCV003473846 RCV004734090 RCV004789511

NM_006767.4(LZTR1):c.2407-18G>A

SNV
Germline

Chr22:20997214

Conflicting classifications of pathogenicity

Condition: not provided
LZTR1-related schwannomatosis

Criteria Provided
Conflicting Classifications

CA10119446

rs_542841506

3 SubmittersRCV001810660 RCV003469504

NM_006767.4(LZTR1):c.658C>T (p.Gln220Ter)

SNV
Germline

Chr22:20990392

Pathogenic/Likely pathogenic

Condition: not provided
LZTR1-related schwannomatosis
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome
Schwannomatosis

Criteria Provided
Multiple Submitters
No Conflicts

CA10118584

rs_749437251

4 SubmittersRCV002543010 RCV003469506 RCV002375333 RCV004699277

NM_006767.4(LZTR1):c.353G>A (p.Arg118His)

SNV
Germline

Chr22:20987536

Conflicting classifications of pathogenicity

LZTR1-related schwannomatosis
Condition: not provided
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA10118387

rs_769001939

7 SubmittersRCV002225132 RCV001314262 RCV002456412 RCV005232261

NM_006767.4(LZTR1):c.1555C>T (p.Arg519Trp)

SNV
Germline

Chr22:20994209

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
LZTR1-related schwannomatosis
Noonan syndrome 2
LZTR1-related schwannomatosis
Noonan syndrome 10

Criteria Provided
Conflicting Classifications

CA10118940

rs_565364639

5 SubmittersRCV001313523 RCV002402878 RCV004570739 RCV005023022

NM_006767.4(LZTR1):c.1978G>A (p.Glu660Lys)

SNV
Germline

Chr22:20995781

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
Noonan syndrome 10
LZTR1-related schwannomatosis
Noonan syndrome 2
LZTR1-related schwannomatosis
Noonan syndrome 10

Criteria Provided
Conflicting Classifications

CA10119182

rs_151000791

6 SubmittersRCV001314421 RCV002418948 RCV002265981 RCV004570744 RCV005394933

NM_006767.4(LZTR1):c.2428C>T (p.Arg810Trp)

SNV
Germline

Chr22:20997253

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
LZTR1-related schwannomatosis
LZTR1-related disorder
Noonan syndrome 2
not specified
Noonan syndrome 2
LZTR1-related schwannomatosis
Noonan syndrome 10

Criteria Provided
Conflicting Classifications

CA10119459

rs_776893978

9 SubmittersRCV001320703 RCV002447356 RCV003447589 RCV004545200 RCV004815363 RCV002271641 RCV005023035

NM_006767.4(LZTR1):c.1055A>C (p.Tyr352Ser)

SNV
Germline

Chr22:20992275

Conflicting classifications of pathogenicity

Noonan syndrome 2
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
Condition: not provided
not specified
Noonan syndrome 2
LZTR1-related schwannomatosis
Noonan syndrome 10

Criteria Provided
Conflicting Classifications

CA10118709

rs_368649599

6 SubmittersRCV001329630 RCV002402921 RCV002546345 RCV003226460 RCV005023053

NM_006767.4(LZTR1):c.1330G>A (p.Asp444Asn)

SNV
Germline

Chr22:20993731

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
LZTR1-related schwannomatosis

Criteria Provided
Conflicting Classifications

CA10118815

rs_775051211

5 SubmittersRCV001364081 RCV002384517 RCV003469600

NM_006767.4(LZTR1):c.263+1G>A

SNV
Germline

Chr22:20983090

Likely pathogenic

Condition: not provided
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome
LZTR1-related schwannomatosis
LZTR1-related disorder
Noonan syndrome 2
LZTR1-related schwannomatosis
Noonan syndrome 10
RASopathy

Reviewed By Expert Panel

CA10118325

rs_761241914

7 SubmittersRCV001377270 RCV002432059 RCV003462947 RCV004545823 RCV005023120 RCV005401833

NM_003073.5(SMARCB1):c.364G>T (p.Glu122Ter)

SNV
Germline

Chr22:23800945

Pathogenic

Condition: not provided
Schwannomatosis

Criteria Provided
Single Submitter

CA410934287

rs_1929106223

2 SubmittersRCV001390133 RCV002243179

NM_006767.4(LZTR1):c.946G>A (p.Val316Met)

SNV
Germline

Chr22:20991782

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
Noonan syndrome 10
LZTR1-related schwannomatosis
Noonan syndrome 2

Criteria Provided
Conflicting Classifications

CA10118669

rs_370315661

7 SubmittersRCV001420965 RCV001806178 RCV002449141 RCV003154035 RCV003470846 RCV004728717

NM_006767.4(LZTR1):c.594-2A>G

SNV
Germline

Chr22:20989623

Pathogenic/Likely pathogenic

Condition: not provided
LZTR1-related schwannomatosis
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA410780262

rs_1374011263

4 SubmittersRCV001552275 RCV003463049 RCV004995942

NM_003073.5(SMARCB1):c.500+883T>G

SNV
Germline

Chr22:23801964

Pathogenic

Schwannomatosis

Criteria Provided
Single Submitter

CA2573054982

rs_2145980559

1 SubmittersRCV001824473

NM_003073.5(SMARCB1):c.500+887G>A

SNV
Germline

Chr22:23801968

Pathogenic

Schwannomatosis

Criteria Provided
Single Submitter

CA2573054983

rs_2145980562

1 SubmittersRCV001824474

NM_006767.4(LZTR1):c.2090G>A (p.Arg697Gln)

SNV
Germline

Chr22:20995983

Conflicting classifications of pathogenicity

Condition: not provided
LZTR1-related schwannomatosis
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
Noonan syndrome 2
Noonan syndrome 10
Noonan syndrome 10
LZTR1-related schwannomatosis
Noonan syndrome 2

Criteria Provided
Conflicting Classifications

CA501021

rs_370638947

12 SubmittersRCV001573375 RCV001824176 RCV002421210 RCV004587183 RCV004785282 RCV005395083

NM_006767.4(LZTR1):c.263+5G>A

SNV
Germline

Chr22:20983094

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
LZTR1-related schwannomatosis

Criteria Provided
Conflicting Classifications

CA638551476

rs_771241129

4 SubmittersRCV001665466 RCV002425020 RCV004571068

NM_006767.4(LZTR1):c.320G>C (p.Arg107Thr)

SNV
Germline

Chr22:20985897

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
LZTR1-related schwannomatosis

Criteria Provided
Conflicting Classifications

CA410778913

rs_1301901369

6 SubmittersRCV001723275 RCV002449402 RCV004571070

NM_006767.4(LZTR1):c.994-1G>T

SNV
Germline

Chr22:20992213

Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
LZTR1-related schwannomatosis

Criteria Provided
Multiple Submitters
No Conflicts

CA10118692

rs_758238174

5 SubmittersRCV001732427 RCV002386508 RCV003464126

NM_006767.4(LZTR1):c.1260+1G>A

SNV
Germline

Chr22:20992905

Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
LZTR1-related schwannomatosis
Noonan syndrome 10
LZTR1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA10118772

rs_143868364

7 SubmittersRCV001768491 RCV002425044 RCV003464128 RCV003458230 RCV004536285

NM_006767.4(LZTR1):c.1556G>A (p.Arg519Gln)

SNV
Germline

Chr22:20994210

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome
Noonan syndrome 2
Noonan syndrome 10
Noonan syndrome 2
LZTR1-related schwannomatosis
Noonan syndrome 10
LZTR1-related schwannomatosis

Criteria Provided
Conflicting Classifications

CA10118941

rs_149502567

6 SubmittersRCV001767699 RCV002405300 RCV004558637 RCV005038299 RCV004571076

NM_006767.4(LZTR1):c.1397G>T (p.Arg466Leu)

SNV
Germline

Chr22:20993967

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome
LZTR1-related schwannomatosis

Criteria Provided
Conflicting Classifications

CA410775160

rs_587777180

4 SubmittersRCV001761449 RCV002388649 RCV003447600

NM_006767.4(LZTR1):c.1261-2A>G

SNV
Germline

Chr22:20993660

Conflicting classifications of pathogenicity

Condition: not provided
LZTR1-related schwannomatosis
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10118796

rs_759240190

4 SubmittersRCV001769173 RCV003470887 RCV005520561

NM_000268.4(NF2):c.448-1G>A

SNV
Germline

Chr22:29654656

Pathogenic

SMARCB1-related schwannomatosis
Neurofibromatosis, type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA411142101

rs_2146966216

3 SubmittersRCV002466695 RCV004594587

NM_006767.4(LZTR1):c.1001G>C (p.Gly334Ala)

SNV
Germline

Chr22:20992221

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
LZTR1-related schwannomatosis

Criteria Provided
Conflicting Classifications

CA10118693

rs_777494767

5 SubmittersRCV001861129 RCV002386553 RCV003474021

NM_006767.4(LZTR1):c.993+1G>T

SNV
Germline

Chr22:20991830

Pathogenic/Likely pathogenic

LZTR1-related schwannomatosis
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10118678

rs_770368435

5 SubmittersRCV003470912 RCV002386563 RCV001782415

NM_006767.4(LZTR1):c.320+1G>C

SNV
Germline

Chr22:20985898

Likely pathogenic

Noonan syndrome 10
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
LZTR1-related schwannomatosis
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA410778915

rs_943939913

5 SubmittersRCV001809170 RCV002324209 RCV004571109 RCV003738099

NM_006767.4(LZTR1):c.2134G>T (p.Glu712Ter)

SNV
Germline

Chr22:20996027

Likely pathogenic

Condition: not provided
LZTR1-related schwannomatosis

Criteria Provided
Multiple Submitters
No Conflicts

CA410779511

rs_1409419929

2 SubmittersRCV001816318 RCV003470926

NM_006767.4(LZTR1):c.320+1G>A

SNV
Germline

Chr22:20985898

Likely pathogenic

Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
Condition: not provided
LZTR1-related schwannomatosis
Schwannomatosis

Criteria Provided
Multiple Submitters
No Conflicts

CA322321256

rs_943939913

4 SubmittersRCV002324215 RCV002543322 RCV003470941 RCV004699489

NM_006767.4(LZTR1):c.2407-1G>A

SNV
Germline

Chr22:20997231

Conflicting classifications of pathogenicity

Condition: not provided
LZTR1-related schwannomatosis
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10119453

rs_200897030

3 SubmittersRCV001929465 RCV004571630 RCV005565025

NM_006767.4(LZTR1):c.1943-1G>A

SNV
Germline

Chr22:20995745

Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
Noonan syndrome 10
LZTR1-related schwannomatosis
Noonan syndrome 2
LZTR1-related schwannomatosis

Criteria Provided
Multiple Submitters
No Conflicts

CA410778922

rs_1189015572

4 SubmittersRCV002023238 RCV002407299 RCV002507803 RCV003471272

NM_006767.4(LZTR1):c.1806G>A (p.Val602=)

SNV
Germline

Chr22:20994890

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome
LZTR1-related schwannomatosis
not specified

Criteria Provided
Conflicting Classifications

CA513699377

rs_1157548960

4 SubmittersRCV001893124 RCV002407011 RCV004579579 RCV004782814

NM_006767.4(LZTR1):c.2326-6T>C

SNV
Germline

Chr22:20996880

Conflicting classifications of pathogenicity

Condition: not provided
not specified
LZTR1-related schwannomatosis

Criteria Provided
Conflicting Classifications

CA10119363

rs_199965510

3 SubmittersRCV001971453 RCV002236195 RCV003447614

NM_006767.4(LZTR1):c.898G>A (p.Gly300Arg)

SNV
Germline

Chr22:20991734

Conflicting classifications of pathogenicity

Condition: not provided
LZTR1-related schwannomatosis
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA410781376

rs_1569156022

3 SubmittersRCV001927508 RCV004571563 RCV005374866

NM_006767.4(LZTR1):c.1919C>T (p.Pro640Leu)

SNV
Germline

Chr22:20995003

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
LZTR1-related schwannomatosis

Criteria Provided
Conflicting Classifications

CA322270212

rs_866139168

4 SubmittersRCV002014943 RCV002407230 RCV004571877

NM_006767.4(LZTR1):c.1235G>A (p.Arg412His)

SNV
Germline

Chr22:20992879

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome
Noonan syndrome 10
Noonan syndrome 2
LZTR1-related schwannomatosis
RASopathy

Criteria Provided
Conflicting Classifications

CA322267992

rs_935736801

5 SubmittersRCV002041193 RCV002361410 RCV002486744 RCV005414287

NM_006767.4(LZTR1):c.55G>C (p.Gly19Arg)

SNV
Germline

Chr22:20982426

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
Condition: not provided
not specified
LZTR1-related schwannomatosis

Criteria Provided
Conflicting Classifications

CA322316108

rs_375788038

4 SubmittersRCV002344081 RCV001972222 RCV003994362 RCV003471083

NM_006767.4(LZTR1):c.2152C>T (p.Gln718Ter)

SNV
Germline

Chr22:20996045

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
LZTR1-related schwannomatosis
Noonan syndrome

Criteria Provided
Conflicting Classifications

CA410779633

rs_767482247

4 SubmittersRCV001993332 RCV002425320 RCV003464285 RCV005626563

NM_006767.4(LZTR1):c.401-1G>C

SNV
Germline

Chr22:20988009

Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
Schwannomatosis

Criteria Provided
Multiple Submitters
No Conflicts

CA410779564

rs_747225246

3 SubmittersRCV001976786 RCV002370648 RCV004699611

NM_006767.4(LZTR1):c.263G>T (p.Gly88Val)

SNV
Germline

Chr22:20983089

Conflicting classifications of pathogenicity

Condition: not provided
LZTR1-related schwannomatosis
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome
Noonan syndrome 10
Noonan syndrome 2
LZTR1-related schwannomatosis

Criteria Provided
Conflicting Classifications

CA322316706

rs_1051725799

5 SubmittersRCV002013915 RCV003471262 RCV004558801 RCV005025638

NM_006767.4(LZTR1):c.1033G>T (p.Glu345Ter)

SNV
Germline

Chr22:20992253

Pathogenic/Likely pathogenic

Condition: not provided
LZTR1-related schwannomatosis

Criteria Provided
Multiple Submitters
No Conflicts

CA410781836

rs_761956867

3 SubmittersRCV001941944 RCV003471156

NM_006767.4(LZTR1):c.465C>G (p.Tyr155Ter)

SNV
Germline

Chr22:20988074

Pathogenic/Likely pathogenic

Condition: not provided
Noonan syndrome 2
LZTR1-related schwannomatosis
Noonan syndrome
Noonan syndrome 2
Noonan syndrome 10
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA410779843

rs_753295968

8 SubmittersRCV002037971 RCV003994364 RCV003389264 RCV004017884 RCV002243491 RCV002331528

NM_006767.4(LZTR1):c.1957C>T (p.Gln653Ter)

SNV
Germline

Chr22:20995760

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
LZTR1-related schwannomatosis

Criteria Provided
Multiple Submitters
No Conflicts

CA10119172

rs_760312637

3 SubmittersRCV001941602 RCV004558762 RCV003471148

NM_006767.4(LZTR1):c.1616-2A>G

SNV
Germline

Chr22:20994556

Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
LZTR1-related schwannomatosis

Criteria Provided
Multiple Submitters
No Conflicts

CA410776426

rs_1328046881

3 SubmittersRCV002022301 RCV002398048 RCV004571886

NM_006767.4(LZTR1):c.2432C>T (p.Ser811Leu)

SNV
Germline

Chr22:20997257

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome
LZTR1-related schwannomatosis

Criteria Provided
Conflicting Classifications

CA10119461

rs_769880462

4 SubmittersRCV001913103 RCV002449557 RCV004571576

NM_006767.4(LZTR1):c.1104C>G (p.Asp368Glu)

SNV
Germline

Chr22:20992324

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
LZTR1-related schwannomatosis

Criteria Provided
Conflicting Classifications

CA410782065

rs_1271934002

3 SubmittersRCV002030560 RCV002425380 RCV003471231

NM_006767.4(LZTR1):c.2284C>T (p.Gln762Ter)

SNV
Germline

Chr22:20996760

Pathogenic

Schwannomatosis
Noonan syndrome 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA410780861

rs_1924868328

3 SubmittersRCV003483868 RCV001972551 RCV004558763

NM_006767.4(LZTR1):c.791+1G>C

SNV
Germline

Chr22:20990526

Pathogenic/Likely pathogenic

Condition: not provided
LZTR1-related schwannomatosis

Criteria Provided
Multiple Submitters
No Conflicts

CA322326205

rs_148031742

3 SubmittersRCV002008243 RCV003471228

NM_006767.4(LZTR1):c.115G>T (p.Glu39Ter)

SNV
Germline

Chr22:20982486

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
LZTR1-related schwannomatosis

Criteria Provided
Multiple Submitters
No Conflicts

CA10118284

rs_762434811

3 SubmittersRCV001951347 RCV002352656 RCV002290824

NM_006767.4(LZTR1):c.784G>A (p.Asp262Asn)

SNV
Germline

Chr22:20990518

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
LZTR1-related schwannomatosis

Criteria Provided
Conflicting Classifications

CA410780704

rs_772266158

4 SubmittersRCV001903717 RCV002407046 RCV003464221

NM_006767.4(LZTR1):c.708C>A (p.Cys236Ter)

SNV
Germline

Chr22:20990442

Pathogenic/Likely pathogenic

Condition: not provided
LZTR1-related schwannomatosis

Criteria Provided
Multiple Submitters
No Conflicts

CA410780528

rs_2147964053

2 SubmittersRCV001956454 RCV002290821

NM_006767.4(LZTR1):c.1433G>A (p.Arg478Gln)

SNV
Germline

Chr22:20994003

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
not specified
LZTR1-related schwannomatosis

Criteria Provided
Conflicting Classifications

CA10118886

rs_138036477

5 SubmittersRCV001968188 RCV002388938 RCV003388069 RCV004571757

NM_006767.4(LZTR1):c.2244C>G (p.Tyr748Ter)

SNV
Germline

Chr22:20996720

Pathogenic/Likely pathogenic

Condition: not provided
LZTR1-related schwannomatosis
Noonan syndrome 10
Noonan syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA410780774

rs_1682503990

2 SubmittersRCV001930333 RCV005023430

NM_006767.4(LZTR1):c.1514G>A (p.Arg505Gln)

SNV
Germline

Chr22:20994168

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome
LZTR1-related schwannomatosis
not specified

Criteria Provided
Conflicting Classifications

CA10118925

rs_201773172

4 SubmittersRCV001895254 RCV002388754 RCV003470990 RCV004801075

NM_006767.4(LZTR1):c.1513C>G (p.Arg505Gly)

SNV
Germline

Chr22:20994167

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
LZTR1-related schwannomatosis
Noonan syndrome 10
Noonan syndrome 2
LZTR1-related schwannomatosis

Criteria Provided
Conflicting Classifications

CA10118923

rs_770974858

5 SubmittersRCV001918553 RCV002388816 RCV005023427 RCV003471034

NM_006767.4(LZTR1):c.1078A>T (p.Lys360Ter)

SNV
Germline

Chr22:20992298

Likely pathogenic

LZTR1-related schwannomatosis
Noonan syndrome 10
Noonan syndrome 2

Criteria Provided
Single Submitter

CA10118713

rs_751308379

1 SubmittersRCV002244164

NM_006767.4(LZTR1):c.1682G>A (p.Arg561His)

SNV
Germline

Chr22:20994624

Conflicting classifications of pathogenicity

Noonan syndrome 2
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome
LZTR1-related schwannomatosis
Condition: not provided
LZTR1-related disorder

Criteria Provided
Conflicting Classifications

CA322269732

rs_970027059

5 SubmittersRCV002249100 RCV002400401 RCV004572085 RCV003738162 RCV004545265

NM_006767.4(LZTR1):c.1942G>T (p.Gly648Cys)

SNV
Germline

Chr22:20995026

Conflicting classifications of pathogenicity

LZTR1-related schwannomatosis
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA410778806

rs_1417500183

3 SubmittersRCV002266556 RCV002409628 RCV005058200

NM_006767.4(LZTR1):c.400G>C (p.Gly134Arg)

SNV
Germline

Chr22:20987583

Likely pathogenic

LZTR1-related schwannomatosis

Criteria Provided
Single Submitter

CA410779483

rs_1440693988

1 SubmittersRCV002272718

NM_006767.4(LZTR1):c.423T>G (p.Tyr141Ter)

SNV
Germline

Chr22:20988032

Pathogenic/Likely pathogenic

Condition: not provided
Noonan syndrome 10
LZTR1-related schwannomatosis
Noonan syndrome 2
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10118437

rs_141357465

3 SubmittersRCV003094603 RCV005025798 RCV002328204

NM_006767.4(LZTR1):c.365C>G (p.Ser122Trp)

SNV
Germline

Chr22:20987548

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
LZTR1-related schwannomatosis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA410779357

rs_587777177

3 SubmittersRCV002452534 RCV003471337 RCV005096344

NM_006767.4(LZTR1):c.1149G>C (p.Glu383Asp)

SNV
Germline

Chr22:20992369

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
LZTR1-related schwannomatosis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA410782155

rs_757111052

3 SubmittersRCV002460324 RCV003464453 RCV005096335

NM_006767.4(LZTR1):c.499A>C (p.Ile167Leu)

SNV
Germline

Chr22:20988108

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Hereditary cancer-predisposing syndrome
LZTR1-related schwannomatosis
LZTR1-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10118448

rs_778265576

4 SubmittersRCV002342980 RCV003471345 RCV004736158 RCV003688974

NM_006767.4(LZTR1):c.791+1G>T

SNV
Germline

Chr22:20990526

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
Condition: not provided
LZTR1-related schwannomatosis

Criteria Provided
Multiple Submitters
No Conflicts

CA10118615

rs_148031742

4 SubmittersRCV002416692 RCV003103453 RCV003471360

NM_006767.4(LZTR1):c.1260G>A (p.Gln420=)

SNV
Germline

Chr22:20992904

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Hereditary cancer-predisposing syndrome
Condition: not provided
LZTR1-related schwannomatosis

Criteria Provided
Conflicting Classifications

CA513457115

rs_1168913250

4 SubmittersRCV002434696 RCV003099916 RCV003471362

NM_006767.4(LZTR1):c.684C>A (p.Cys228Ter)

SNV
Germline

Chr22:20990418

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
LZTR1-related schwannomatosis
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA410780475

rs_1343634751

3 SubmittersRCV002377983 RCV003471358 RCV005097026

NM_006767.4(LZTR1):c.1272C>G (p.Tyr424Ter)

SNV
Germline

Chr22:20993673

Pathogenic/Likely pathogenic

Cardiovascular phenotype
Hereditary cancer-predisposing syndrome
LZTR1-related schwannomatosis
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA410774304

rs_752388008

3 SubmittersRCV002449964 RCV003471369 RCV005097306

NM_006767.4(LZTR1):c.1353+1G>A

SNV
Germline

Chr22:20993755

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Hereditary cancer-predisposing syndrome
Condition: not provided
Schwannomatosis

Criteria Provided
Conflicting Classifications

CA410774794

rs_1170363408

3 SubmittersRCV002387983 RCV003561003 RCV005239411

NM_006767.4(LZTR1):c.1353+1G>T

SNV
Germline

Chr22:20993755

Likely pathogenic

Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
LZTR1-related schwannomatosis
Condition: not provided
LZTR1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA410774802

rs_1170363408

5 SubmittersRCV002387984 RCV003447627 RCV003108071 RCV004725266

NM_006767.4(LZTR1):c.1354-2A>G

SNV
Germline

Chr22:20993922

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
LZTR1-related schwannomatosis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10118857

rs_772714594

4 SubmittersRCV002383315 RCV003465717 RCV003146555

NM_006767.4(LZTR1):c.1360G>T (p.Glu454Ter)

SNV
Germline

Chr22:20993930

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
LZTR1-related schwannomatosis

Criteria Provided
Multiple Submitters
No Conflicts

CA410774994

rs_771525633

2 SubmittersRCV002383490 RCV004572410

NM_006767.4(LZTR1):c.994-1G>A

SNV
Germline

Chr22:20992213

Likely pathogenic

Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
LZTR1-related schwannomatosis
Condition: not provided
LZTR1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA410781712

rs_758238174

4 SubmittersRCV002382902 RCV003464505 RCV003730160 RCV004534077

NM_006767.4(LZTR1):c.1462G>T (p.Glu488Ter)

SNV
Germline

Chr22:20994116

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
Condition: not provided
LZTR1-related schwannomatosis

Criteria Provided
Multiple Submitters
No Conflicts

CA410775484

rs_1385691888

3 SubmittersRCV002396764 RCV003561011 RCV003465723

NM_006767.4(LZTR1):c.1466C>G (p.Ala489Gly)

SNV
Germline

Chr22:20994120

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
LZTR1-related schwannomatosis

Criteria Provided
Conflicting Classifications

CA410775504

rs_1327762745

2 SubmittersRCV002396834 RCV003465724

NM_006767.4(LZTR1):c.1031C>A (p.Ser344Tyr)

SNV
Germline

Chr22:20992251

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
LZTR1-related schwannomatosis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA410781830

rs_1924632209

3 SubmittersRCV002381107 RCV003465718 RCV005097483

NM_006767.4(LZTR1):c.1616-1G>A

SNV
Germline

Chr22:20994557

Likely pathogenic

Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
Condition: not provided
LZTR1-related schwannomatosis

Criteria Provided
Multiple Submitters
No Conflicts

CA410776431

rs_777908919

3 SubmittersRCV002400971 RCV003097009 RCV003464528

NM_006767.4(LZTR1):c.2269C>T (p.Gln757Ter)

SNV
Germline

Chr22:20996745

Pathogenic

Cardiovascular phenotype
Hereditary cancer-predisposing syndrome
LZTR1-related schwannomatosis
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10119326

rs_774123273

4 SubmittersRCV002443841 RCV003151409 RCV003098765

NM_006767.4(LZTR1):c.201-1G>A

SNV
Germline

Chr22:20983026

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Hereditary cancer-predisposing syndrome
LZTR1-related schwannomatosis

Criteria Provided
Conflicting Classifications

CA410778239

rs_2518608539

2 SubmittersRCV002417366 RCV003464542

NM_006767.4(LZTR1):c.401-1G>A

SNV
Germline

Chr22:20988009

Pathogenic/Likely pathogenic

LZTR1-related schwannomatosis
Noonan syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10118431

rs_747225246

3 SubmittersRCV002466951 RCV003336763 RCV005058870

NM_006767.4(LZTR1):c.1702C>T (p.Gln568Ter)

SNV
Germline

Chr22:20994644

Pathogenic/Likely pathogenic

Condition: not provided
LZTR1-related schwannomatosis

Criteria Provided
Multiple Submitters
No Conflicts

CA410777893

rs_1924756229

3 SubmittersRCV002467071 RCV003464566

NM_006767.4(LZTR1):c.651+1G>A

SNV
Germline

Chr22:20989683

Likely pathogenic

LZTR1-related schwannomatosis
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA410780396

rs_1450044732

3 SubmittersRCV002471321 RCV003164738 RCV003720645

NM_006767.4(LZTR1):c.1942+2T>C

SNV
Germline

Chr22:20995028

Likely pathogenic

Condition: not provided
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome
LZTR1-related schwannomatosis

Criteria Provided
Multiple Submitters
No Conflicts

CA10119111

rs_752489470

4 SubmittersRCV002599490 RCV004560053 RCV004572790

NM_006767.4(LZTR1):c.200+1G>C

SNV
Germline

Chr22:20982572

Likely pathogenic

Condition: not provided
LZTR1-related schwannomatosis
Noonan syndrome 10
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA410778203

rs_1216738448

4 SubmittersRCV002785496 RCV003475419 RCV004786744 RCV004990860

NM_006767.4(LZTR1):c.1149+1G>T

SNV
Germline

Chr22:20992370

Likely pathogenic

Condition: not provided
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome
LZTR1-related schwannomatosis
RASopathy

Reviewed By Expert Panel

CA10118733

rs_767191322

4 SubmittersRCV002994987 RCV003170797 RCV003464647 RCV005401994

NM_006767.4(LZTR1):c.200+2T>C

SNV
Germline

Chr22:20982573

Likely pathogenic

Condition: not provided
LZTR1-related schwannomatosis
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA410778209

rs_573971763

4 SubmittersRCV003147132 RCV004572858 RCV004992577

NM_006767.4(LZTR1):c.401-5C>G

SNV
Germline

Chr22:20988005

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome
Noonan syndrome 10
Noonan syndrome 2
LZTR1-related schwannomatosis
LZTR1-related schwannomatosis

Criteria Provided
Conflicting Classifications

CA638554205

rs_1199776016

4 SubmittersRCV003730426 RCV003172165 RCV005029928 RCV003466033

NM_006767.4(LZTR1):c.985G>A (p.Asp329Asn)

SNV
Germline

Chr22:20991821

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Hereditary cancer-predisposing syndrome
LZTR1-related schwannomatosis
Condition: not provided
LZTR1-related disorder

Criteria Provided
Conflicting Classifications

CA10118675

rs_771851532

5 SubmittersRCV003216357 RCV003459803 RCV003561235 RCV004736326

NM_006767.4(LZTR1):c.2073C>G (p.Tyr691Ter)

SNV
Germline

Chr22:20995966

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
LZTR1-related schwannomatosis
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10119235

rs_773774069

3 SubmittersRCV003216358 RCV003466040 RCV003549022

NM_003073.5(SMARCB1):c.1118+2T>C

SNV
Germline

Chr22:23833705

Pathogenic

SMARCB1-related schwannomatosis

Criteria Provided
Single Submitter

CA410914205

rs_2146042856

1 SubmittersRCV003228217

NM_006767.4(LZTR1):c.2325+1G>A

SNV
Germline

Chr22:20996802

Pathogenic

LZTR1-related schwannomatosis
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA410780952

rs_1263566071

3 SubmittersRCV003466056 RCV003319123

NM_006767.4(LZTR1):c.1615+2T>C

SNV
Germline

Chr22:20994271

Pathogenic/Likely pathogenic

LZTR1-related schwannomatosis
LZTR1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA410776306

rs_1180748005

2 SubmittersRCV003459855 RCV004529820

NM_000268.4(NF2):c.1340+1G>C

SNV
Unknown

Chr22:29673487

Likely pathogenic

SMARCB1-related schwannomatosis

Criteria Provided
Single Submitter

CA411148746

rs_2147084279

1 SubmittersRCV003448541

NM_006767.4(LZTR1):c.264-1G>A

SNV
Germline

Chr22:20985840

Likely pathogenic

LZTR1-related schwannomatosis
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA410778765

rs_2518610578

2 SubmittersRCV003470011 RCV003779048

NM_006767.4(LZTR1):c.1449+2T>G

SNV
Germline

Chr22:20994021

Likely pathogenic

LZTR1-related schwannomatosis
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA322268972

rs_1036772752

2 SubmittersRCV003470013 RCV004560177

NM_006767.4(LZTR1):c.1777C>T (p.Gln593Ter)

SNV
Unknown

Chr22:20994719

Likely pathogenic

LZTR1-related schwannomatosis

Criteria Provided
Single Submitter

CA410778342

rs_1924761523

1 SubmittersRCV003470017

NM_006767.4(LZTR1):c.2069+1G>A

SNV
Germline

Chr22:20995873

Likely pathogenic

LZTR1-related schwannomatosis
Condition: not provided
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA410779172

rs_200472467

3 SubmittersRCV003470023 RCV003779050 RCV005439133

NM_006767.4(LZTR1):c.401-2A>C

SNV
Germline

Chr22:20988008

Likely pathogenic

LZTR1-related schwannomatosis
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA410779555

rs_1222197005

2 SubmittersRCV003470027 RCV004992610

NM_006767.4(LZTR1):c.263+3G>C

SNV
Unknown

Chr22:20983092

Likely pathogenic

LZTR1-related schwannomatosis

Criteria Provided
Single Submitter

CA2396636202

rs_1924258957

1 SubmittersRCV003461821

NM_006767.4(LZTR1):c.1365C>A (p.Cys455Ter)

SNV
Germline

Chr22:20993935

Pathogenic/Likely pathogenic

LZTR1-related schwannomatosis
Condition: not provided
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA410775018

rs_1386837360

3 SubmittersRCV003470033 RCV005100179 RCV004560182

NM_006767.4(LZTR1):c.994-2A>T

SNV
Germline

Chr22:20992212

Likely pathogenic

Condition: not provided
LZTR1-related schwannomatosis

Criteria Provided
Multiple Submitters
No Conflicts

CA410781708

rs_752600682

3 SubmittersRCV003845562 RCV004573357

NM_006767.4(LZTR1):c.510-6C>G

SNV
Germline

Chr22:20988783

Conflicting classifications of pathogenicity

Condition: not provided
Noonan syndrome 2
LZTR1-related schwannomatosis
Noonan syndrome 10
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA2524898334

rs_2518614015

3 SubmittersRCV003874270 RCV005038613 RCV004992932

NM_006767.4(LZTR1):c.495G>A (p.Trp165Ter)

SNV
Germline

Chr22:20988104

Pathogenic

Emery-Dreifuss muscular dystrophy
Schwannomatosis
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA410779918

rs_2147962064