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 Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA119228	rs_74315513	3 SubmittersRCV000008490 RCV003555975 RCV003278655
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	Pathogenic/Likely pathogenic	LZTR1-related schwannomatosis LZTR1-related schwannomatosis Noonan syndrome 2 Noonan syndrome 10 Schwannomatosis Cardiovascular phenotype Hereditary cancer-predisposing syndrome Condition: not provided Noonan syndrome 2 Developmental disorder	Criteria Provided Multiple Submitters No Conflicts	CA150700	rs_587777176	14 SubmittersRCV000087292 RCV002498472 RCV004700409 RCV002426650 RCV001291541 RCV004786368 RCV003126498
NM_006767.4(LZTR1):c.365C>T (p.Ser122Leu)	SNV Germline	Chr22:20987548	Conflicting classifications of pathogenicity	Condition: not provided Cardiovascular phenotype Hereditary cancer-predisposing syndrome Schwannomatosis LZTR1-related disorder Noonan syndrome 10 LZTR1-related schwannomatosis	Criteria Provided Conflicting Classifications	CA150701	rs_587777177	9 SubmittersRCV001200448 RCV002453416 RCV003315228 RCV004529907 RCV004786369 RCV000087293
NM_006767.4(LZTR1):c.2062C>T (p.Arg688Cys)	SNV Germline	Chr22:20995865	Conflicting classifications of pathogenicity	Condition: not provided Cardiovascular phenotype Hereditary cancer-predisposing syndrome LZTR1-related disorder Diffuse midline glioma, H3 K27-altered LZTR1-related schwannomatosis	Criteria Provided Conflicting Classifications	CA150702	rs_587777178	9 SubmittersRCV001055087 RCV002415585 RCV004529908 RCV004776273 RCV000087294
NM_006767.4(LZTR1):c.1397G>A (p.Arg466Gln)	SNV Germline	Chr22:20993967	Likely pathogenic	LZTR1-related schwannomatosis Schwannomatosis Noonan syndrome and Noonan-related syndrome Condition: not provided Hereditary cancer-predisposing syndrome Cardiovascular phenotype Noonan syndrome 2	Criteria Provided Multiple Submitters No Conflicts	CA150704	rs_587777180	10 SubmittersRCV000087296 RCV001260384 RCV001813376 RCV001312780 RCV002390252 RCV004815183
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 Cardiovascular phenotype Hereditary cancer-predisposing syndrome LZTR1-related schwannomatosis RASopathy Noonan syndrome 1 LZTR1-related disorder	Reviewed By Expert Panel	CA358852	rs_869320686	25 SubmittersRCV000191027 RCV000413889 RCV000763072 RCV001526613 RCV002381647 RCV003988835 RCV004576927 RCV004698786 RCV004734846
NM_006767.4(LZTR1):c.850C>T (p.Arg284Cys)	SNV Germline	Chr22:20991686	Pathogenic/Likely pathogenic	Noonan syndrome 10 Condition: not provided LZTR1-related schwannomatosis Noonan syndrome 10 LZTR1-related disorder LZTR1-related schwannomatosis Noonan syndrome 10 Noonan syndrome 2 Hereditary cancer-predisposing syndrome Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA204980	rs_797045165	11 SubmittersRCV000191028 RCV000658480 RCV000763073 RCV004530087 RCV004796089 RCV002444774
NM_003073.5(SMARCB1):c.*82C>T	SNV Germline	Chr22:23834262	Pathogenic/Likely pathogenic	Condition: not provided Schwannoma Peripheral schwannoma SMARCB1-related schwannomatosis Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA10583893	rs_878854600	5 SubmittersRCV000231611 RCV000626834 RCV000656363 RCV003298297
NM_006767.4(LZTR1):c.1396C>T (p.Arg466Trp)	SNV Germline	Chr22:20993966	Conflicting classifications of pathogenicity	Condition: not provided not specified Hereditary cancer-predisposing syndrome Cardiovascular phenotype LZTR1-related schwannomatosis LZTR1-related disorder	Criteria Provided Conflicting Classifications	CA10118872	rs_550922200	9 SubmittersRCV000355063 RCV001797700 RCV002392792 RCV003236580 RCV004535249
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 Schwannomatosis RASopathy Noonan syndrome 10	Reviewed By Expert Panel	CA10118715	rs_189150283	16 SubmittersRCV000329167 RCV001706423 RCV001799649 RCV001813447 RCV002252087 RCV002429235 RCV000736158 RCV000763074 RCV001193024 RCV004732473 RCV003387519
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 Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA10146036	rs_752910574	3 SubmittersRCV000269507 RCV000308154 RCV000365158 RCV001417685 RCV000572980
NM_000268.4(NF2):c.*359G>A	SNV Germline	Chr22:29695161	Conflicting classifications of pathogenicity	Neurofibromatosis, type 2 Familial meningioma Neurofibromatosis, type 2 SMARCB1-related schwannomatosis Condition: not provided	Criteria Provided Conflicting Classifications	CA10645249	rs_572307337	3 SubmittersRCV000307146 RCV002488733 RCV003221940
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 Hereditary cancer-predisposing syndrome Rhabdoid tumor predisposition syndrome 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA10145992	rs_762962010	5 SubmittersRCV000299341 RCV000337956 RCV001024873 RCV001789772 RCV000559614
NM_003073.5(SMARCB1):c.628+13C>T	SNV Germline	Chr22:23803435	Conflicting classifications of pathogenicity	Rhabdoid tumor predisposition syndrome 1 Intellectual disability, autosomal dominant 15 SMARCB1-related schwannomatosis not specified Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA10145998	rs_184021903	11 SubmittersRCV000407869 RCV001335092 RCV000361783 RCV000431220 RCV001528356 RCV002255370
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_006767.4(LZTR1):c.509G>A (p.Arg170Gln)	SNV Germline	Chr22:20988118	Pathogenic/Likely pathogenic	Condition: not provided Cardiovascular phenotype Hereditary cancer-predisposing syndrome Noonan syndrome 10 LZTR1-related schwannomatosis LZTR1-related disorder Male infertility with azoospermia or oligozoospermia due to single gene mutation	Criteria Provided Multiple Submitters No Conflicts	CA10118451	rs_781431741	8 SubmittersRCV000482299 RCV002341137 RCV004722819 RCV001542701 RCV004541521 RCV003991579
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	Criteria Provided Conflicting Classifications	CA10119384	rs_141672122	5 SubmittersRCV000481440 RCV001507320 RCV002455940 RCV003470588
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 Cardiovascular phenotype Hereditary cancer-predisposing syndrome LZTR1-related schwannomatosis LZTR1-related disorder	Criteria Provided Conflicting Classifications	CA10119101	rs_148677674	8 SubmittersRCV000499922 RCV001454598 RCV001584206 RCV002413371 RCV003494569 RCV004535572
NM_006767.4(LZTR1):c.1149+1G>A	SNV Germline	Chr22:20992370	Pathogenic/Likely pathogenic	Condition: not provided Cardiovascular phenotype Hereditary cancer-predisposing syndrome LZTR1-related schwannomatosis	Criteria Provided Multiple Submitters No Conflicts	CA322328053	rs_767191322	7 SubmittersRCV000522778 RCV002456013 RCV004568672
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 Hereditary cancer-predisposing syndrome Cardiovascular phenotype Schwannomatosis LZTR1-related schwannomatosis	Criteria Provided Multiple Submitters No Conflicts	CA10118698	rs_149850248	14 SubmittersRCV000578630 RCV001293930 RCV002358639 RCV004767415 RCV001310194
NM_006767.4(LZTR1):c.26G>C (p.Gly9Ala)	SNV Germline	Chr22:20982397	Conflicting classifications of pathogenicity	Condition: not provided Noonan syndrome 10 not specified Hereditary cancer-predisposing syndrome Cardiovascular phenotype LZTR1-related schwannomatosis	Criteria Provided Conflicting Classifications	CA10118269	rs_756485244	7 SubmittersRCV001055587 RCV002291680 RCV001199922 RCV002438612 RCV003465360
NM_006767.4(LZTR1):c.400+1G>C	SNV Germline	Chr22:20987584	Likely pathogenic	Condition: not provided Schwannomatosis Hereditary cancer-predisposing syndrome Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA410779488	rs_1555927561	3 SubmittersRCV001855308 RCV004767447 RCV004559255
NM_006767.4(LZTR1):c.1943-256C>T	SNV Germline	Chr22:20995490	Conflicting classifications of pathogenicity	Condition: not provided Noonan syndrome 2 LZTR1-related schwannomatosis Cardiovascular phenotype Hereditary cancer-predisposing syndrome Noonan syndrome	Criteria Provided Conflicting Classifications	CA10119150	rs_761685529	9 SubmittersRCV000681140 RCV000735432 RCV003465362 RCV002413779 RCV003336096
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 SMARCB1-related schwannomatosis Neurofibromatosis, type 2 not specified Hereditary cancer-predisposing syndrome Familial meningioma Condition: not provided	Criteria Provided Conflicting Classifications	CA037304	rs_201214090	7 SubmittersRCV000632640 RCV000765629 RCV001249076 RCV001010465 RCV001198705 RCV004723000
NM_006767.4(LZTR1):c.1785+1G>A	SNV Germline	Chr22:20994728	Pathogenic/Likely pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Cardiovascular phenotype LZTR1-related schwannomatosis Noonan syndrome 2	Criteria Provided Multiple Submitters No Conflicts		rs_145594158	7 SubmittersRCV000658061 RCV002406499 RCV001788313 RCV002248854
NM_006767.4(LZTR1):c.-38T>A	SNV Germline	Chr22:20982334	Conflicting classifications of pathogenicity	Noonan syndrome 2 Noonan syndrome 2 Noonan syndrome 10 LZTR1-related schwannomatosis Noonan syndrome 2 Noonan syndrome 10 Hereditary cancer-predisposing syndrome Cardiovascular phenotype Condition: not provided LZTR1-related schwannomatosis	Criteria Provided Conflicting Classifications		rs_1459786357	6 SubmittersRCV000754921 RCV002245073 RCV002499144 RCV002360688 RCV002462004 RCV003465433
NM_006767.4(LZTR1):c.1311G>A (p.Trp437Ter)	SNV Germline	Chr22:20993712	Pathogenic	Hereditary cancer-predisposing syndrome Cardiovascular phenotype Noonan syndrome 2 Condition: not provided LZTR1-related schwannomatosis	Criteria Provided Multiple Submitters No Conflicts		rs_770933647	4 SubmittersRCV002386139 RCV000754920 RCV001855426 RCV004568485
NM_006767.4(LZTR1):c.848G>A (p.Arg283Gln)	SNV Germline	Chr22:20991684	Pathogenic/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 LZTR1-related disorder LZTR1-related schwannomatosis Cardiovascular phenotype Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1223430276	15 SubmittersRCV000681082 RCV000761304 RCV001813545 RCV002233108 RCV003151134 RCV003991581 RCV004535698 RCV004568578 RCV004993935
NM_006767.4(LZTR1):c.1855C>T (p.Arg619Cys)	SNV Germline	Chr22:20994939	Conflicting classifications of pathogenicity	Condition: not provided Cardiovascular phenotype Hereditary cancer-predisposing syndrome LZTR1-related schwannomatosis Noonan syndrome 10 Noonan syndrome 2 Noonan syndrome 10 See cases	Criteria Provided Conflicting Classifications		rs_373488966	8 SubmittersRCV000681434 RCV002406527 RCV004568579 RCV004788107 RCV004559347 RCV004584403
NM_006767.4(LZTR1):c.1901A>C (p.Gln634Pro)	SNV Germline	Chr22:20994985	Conflicting classifications of pathogenicity	Condition: not provided Cardiovascular phenotype Hereditary cancer-predisposing syndrome LZTR1-related schwannomatosis not specified	Criteria Provided Conflicting Classifications		rs_770312150	5 SubmittersRCV000681112 RCV002406522 RCV003459657 RCV003323682
NM_006767.4(LZTR1):c.2002G>T (p.Asp668Tyr)	SNV Germline	Chr22:20995805	Conflicting classifications of pathogenicity	Condition: not provided Cardiovascular phenotype Hereditary cancer-predisposing syndrome LZTR1-related schwannomatosis	Criteria Provided Conflicting Classifications		rs_776005012	4 SubmittersRCV000680839 RCV002422461 RCV003459656
NM_000268.4(NF2):c.1619A>G (p.Asn540Ser)	SNV Germline	Chr22:29681483	Conflicting classifications of pathogenicity	Neurofibromatosis, type 2 SMARCB1-related schwannomatosis Familial meningioma Neurofibromatosis, type 2 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_774824164	6 SubmittersRCV000685036 RCV000765630 RCV001012452
NM_006767.4(LZTR1):c.2220-17C>A	SNV Germline	Chr22:20996679	Likely pathogenic	Noonan syndrome 2 LZTR1-related schwannomatosis	Criteria Provided Single Submitter		rs_1249726034	2 SubmittersRCV000735430 RCV003465672
NM_006767.4(LZTR1):c.628C>T (p.Arg210Ter)	SNV Germline	Chr22:20989659	Pathogenic	Noonan syndrome 2 Condition: not provided Noonan syndrome 10 LZTR1-related schwannomatosis Hereditary cancer-predisposing syndrome Cardiovascular phenotype LZTR1-related disorder	Criteria Provided Multiple Submitters No Conflicts		rs_150419186	12 SubmittersRCV000735431 RCV000760481 RCV001330297 RCV002290002 RCV002360863 RCV004535887
NM_006767.4(LZTR1):c.361C>G (p.His121Asp)	SNV Germline	Chr22:20987544	Likely pathogenic	Noonan syndrome 2 LZTR1-related schwannomatosis	Criteria Provided Single Submitter		rs_1569154492	2 SubmittersRCV000735434 RCV003989594
NM_006767.4(LZTR1):c.486G>A (p.Trp162Ter)	SNV Germline	Chr22:20988095	Pathogenic	LZTR1-related schwannomatosis Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1569154722	2 SubmittersRCV000785628 RCV001380282
NM_000268.4(NF2):c.363+1G>A	SNV Germline	Chr22:29639213	Pathogenic	Condition: not provided SMARCB1-related schwannomatosis	Criteria Provided Single Submitter		rs_1601583839	2 SubmittersRCV000786799 RCV002272353
NM_006767.4(LZTR1):c.2462T>C (p.Ile821Thr)	SNV Germline	Chr22:20997287	Conflicting classifications of pathogenicity	Noonan syndrome 2 LZTR1-related disorder Noonan syndrome 1 Condition: not provided Hereditary cancer-predisposing syndrome Cardiovascular phenotype LZTR1-related schwannomatosis	Criteria Provided Conflicting Classifications		rs_1275511136	8 SubmittersRCV000787273 RCV004535916 RCV004698789 RCV003133592 RCV004559650 RCV003989603
NM_006767.4(LZTR1):c.2232G>A (p.Ala744=)	SNV Germline	Chr22:20996708	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Hereditary cancer-predisposing syndrome Condition: not provided LZTR1-related schwannomatosis	Criteria Provided Conflicting Classifications		rs_139261473	7 SubmittersRCV001269237 RCV002427447 RCV002549986 RCV004569843
NM_006767.4(LZTR1):c.2309T>C (p.Val770Ala)	SNV Germline	Chr22:20996785	Conflicting classifications of pathogenicity	Condition: not provided LZTR1-related schwannomatosis Cardiovascular phenotype Hereditary cancer-predisposing syndrome not specified	Criteria Provided Conflicting Classifications		rs_752880731	5 SubmittersRCV000997881 RCV003467559 RCV002445152 RCV004702564
NM_006767.4(LZTR1):c.2407-2A>G	SNV Germline	Chr22:20997230	Conflicting classifications of pathogenicity	Condition: not provided Noonan syndrome 2 Cardiovascular phenotype Hereditary cancer-predisposing syndrome LZTR1-related schwannomatosis	Criteria Provided Conflicting Classifications		rs_1158550690	9 SubmittersRCV000997883 RCV001291825 RCV002454247 RCV003227886
NM_003073.5(SMARCB1):c.568C>T (p.Arg190Trp)	SNV Germline	Chr22:23803362	Conflicting classifications of pathogenicity	SMARCB1-related schwannomatosis Hereditary cancer-predisposing syndrome Condition: not provided Autism spectrum disorder	Criteria Provided Conflicting Classifications		rs_1601405064	4 SubmittersRCV001195823 RCV001024411 RCV001365280 RCV003127587
NM_006767.4(LZTR1):c.22G>T (p.Gly8Trp)	SNV Germline	Chr22:20982393	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Cardiovascular phenotype LZTR1-related schwannomatosis	Criteria Provided Conflicting Classifications		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		rs_568213908	4 SubmittersRCV001060885 RCV002411569 RCV003462586
NM_006767.4(LZTR1):c.791+1G>A	SNV Germline	Chr22:20990526	Pathogenic/Likely pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Cardiovascular phenotype LZTR1-related schwannomatosis Schwannomatosis	Criteria Provided Multiple Submitters No Conflicts		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		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		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 LZTR1-related schwannomatosis Condition: not provided Cardiovascular phenotype Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_764439278	5 SubmittersRCV001201227 RCV003469318 RCV001859216 RCV002447045
NM_006767.4(LZTR1):c.488C>T (p.Thr163Met)	SNV Germline	Chr22:20988097	Conflicting classifications of pathogenicity	Condition: not provided Noonan syndrome and Noonan-related syndrome not specified Hereditary cancer-predisposing syndrome Cardiovascular phenotype LZTR1-related schwannomatosis	Criteria Provided Conflicting Classifications		rs_200806641	6 SubmittersRCV001203002 RCV001813580 RCV003490116 RCV002339507 RCV003469324
NM_006767.4(LZTR1):c.981C>G (p.Ser327Arg)	SNV Germline	Chr22:20991817	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Cardiovascular phenotype LZTR1-related schwannomatosis	Criteria Provided Conflicting Classifications		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 Hereditary cancer-predisposing syndrome Cardiovascular phenotype LZTR1-related schwannomatosis	Criteria Provided Multiple Submitters No Conflicts		rs_982944299	4 SubmittersRCV001202111 RCV002402575 RCV003469321
NM_006767.4(LZTR1):c.1700G>A (p.Arg567His)	SNV Germline	Chr22:20994642	Conflicting classifications of pathogenicity	Condition: not provided not specified LZTR1-related schwannomatosis Hereditary cancer-predisposing syndrome Cardiovascular phenotype Noonan syndrome 10	Criteria Provided Conflicting Classifications		rs_372417941	6 SubmittersRCV001243402 RCV001290606 RCV002291738 RCV002402775 RCV002466649
NM_006767.4(LZTR1):c.993+1G>A	SNV Germline	Chr22:20991830	Pathogenic/Likely pathogenic	Noonan syndrome 2 Condition: not provided Hereditary cancer-predisposing syndrome Cardiovascular phenotype Schwannomatosis LZTR1-related schwannomatosis	Criteria Provided Multiple Submitters No Conflicts		rs_770368435	7 SubmittersRCV001250472 RCV001379899 RCV002379954 RCV004769972 RCV003462828
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		rs_745476291	4 SubmittersRCV001251317 RCV002430053 RCV004570642 RCV003698851
NM_006767.4(LZTR1):c.2317G>A (p.Val773Met)	SNV Germline	Chr22:20996793	Conflicting classifications of pathogenicity	not specified Condition: not provided Cardiovascular phenotype Hereditary cancer-predisposing syndrome LZTR1-related schwannomatosis LZTR1-related disorder Noonan syndrome 2	Criteria Provided Conflicting Classifications		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		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 Hereditary cancer-predisposing syndrome Cardiovascular phenotype Schwannomatosis	Criteria Provided Multiple Submitters No Conflicts		rs_749437251	4 SubmittersRCV002543010 RCV003469506 RCV002375333 RCV004699277
NM_006767.4(LZTR1):c.353G>A (p.Arg118His)	SNV Germline	Chr22:20987536	Conflicting classifications of pathogenicity	Condition: not provided LZTR1-related schwannomatosis Cardiovascular phenotype Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_769001939	6 SubmittersRCV001314262 RCV002225132 RCV002456412
NM_006767.4(LZTR1):c.1019G>A (p.Arg340Gln)	SNV Germline	Chr22:20992239	Conflicting classifications of pathogenicity	Condition: not provided not specified Hereditary cancer-predisposing syndrome Cardiovascular phenotype LZTR1-related schwannomatosis	Criteria Provided Conflicting Classifications		rs_368589786	4 SubmittersRCV001326639 RCV004587123 RCV002357164 RCV003469555
NM_006767.4(LZTR1):c.1354A>G (p.Lys452Glu)	SNV Germline	Chr22:20993924	Conflicting classifications of pathogenicity	Condition: not provided Cardiovascular phenotype Hereditary cancer-predisposing syndrome LZTR1-related schwannomatosis not specified	Criteria Provided Conflicting Classifications		rs_200296313	5 SubmittersRCV001320934 RCV002384413 RCV003469545 RCV004526110
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	Criteria Provided Conflicting Classifications		rs_565364639	4 SubmittersRCV001313523 RCV002402878 RCV004570739
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	Criteria Provided Conflicting Classifications		rs_151000791	5 SubmittersRCV001314421 RCV002418948 RCV002265981 RCV004570744
NM_006767.4(LZTR1):c.2428C>T (p.Arg810Trp)	SNV Germline	Chr22:20997253	Conflicting classifications of pathogenicity	Condition: not provided Cardiovascular phenotype Hereditary cancer-predisposing syndrome not specified LZTR1-related disorder LZTR1-related schwannomatosis Noonan syndrome 2	Criteria Provided Conflicting Classifications		rs_776893978	8 SubmittersRCV001320703 RCV002447356 RCV002271641 RCV004545200 RCV003447589 RCV004815363
NM_006767.4(LZTR1):c.1183G>A (p.Val395Ile)	SNV Germline	Chr22:20992827	Conflicting classifications of pathogenicity	Condition: not provided not specified LZTR1-related schwannomatosis Noonan syndrome 2 Noonan syndrome 10 Hereditary cancer-predisposing syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_373591504	5 SubmittersRCV001342538 RCV002222702 RCV003469574 RCV004557552 RCV002341702
NM_006767.4(LZTR1):c.263+1G>A	SNV Germline	Chr22:20983090	Pathogenic/Likely pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Cardiovascular phenotype LZTR1-related schwannomatosis LZTR1-related disorder	Criteria Provided Multiple Submitters No Conflicts		rs_761241914	5 SubmittersRCV001377270 RCV002432059 RCV003462947 RCV004545823
NM_003073.5(SMARCB1):c.364G>T (p.Glu122Ter)	SNV Germline	Chr22:23800945	Pathogenic	Condition: not provided Schwannomatosis	Criteria Provided Single Submitter		rs_1929106223	2 SubmittersRCV001390133 RCV002243179
NM_006767.4(LZTR1):c.946G>A (p.Val316Met)	SNV Germline	Chr22:20991782	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Cardiovascular phenotype Noonan syndrome 10 Noonan syndrome 2 Condition: not provided LZTR1-related schwannomatosis	Criteria Provided Conflicting Classifications		rs_370315661	7 SubmittersRCV001420965 RCV002449141 RCV003154035 RCV004728717 RCV001806178 RCV003470846
NM_006767.4(LZTR1):c.1412G>A (p.Arg471His)	SNV Germline	Chr22:20993982	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Cardiovascular phenotype Noonan syndrome 10 Condition: not provided LZTR1-related schwannomatosis	Criteria Provided Conflicting Classifications		rs_139031749	6 SubmittersRCV001420790 RCV002395958 RCV003444868 RCV001882535 RCV003470845
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		rs_1374011263	3 SubmittersRCV001552275 RCV003463049 RCV004995942
NM_003073.5(SMARCB1):c.500+883T>G	SNV Germline	Chr22:23801964	Pathogenic	Schwannomatosis	Criteria Provided Single Submitter		rs_2145980559	1 SubmittersRCV001824473
NM_003073.5(SMARCB1):c.500+887G>A	SNV Germline	Chr22:23801968	Pathogenic	Schwannomatosis	Criteria Provided Single Submitter		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 Cardiovascular phenotype Hereditary cancer-predisposing syndrome Noonan syndrome 2 Noonan syndrome 10	Criteria Provided Conflicting Classifications		rs_370638947	9 SubmittersRCV001573375 RCV001824176 RCV002421210 RCV004587183 RCV004785282
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		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 LZTR1-related schwannomatosis Cardiovascular phenotype Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_1301901369	6 SubmittersRCV001723275 RCV004571070 RCV002449402
NM_006767.4(LZTR1):c.994-1G>T	SNV Germline	Chr22:20992213	Likely pathogenic	Condition: not provided LZTR1-related schwannomatosis Cardiovascular phenotype Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_758238174	5 SubmittersRCV001732427 RCV003464126 RCV002386508
NM_006767.4(LZTR1):c.1260+1G>A	SNV Germline	Chr22:20992905	Conflicting classifications of pathogenicity	Condition: not provided Noonan syndrome 10 LZTR1-related disorder Cardiovascular phenotype Hereditary cancer-predisposing syndrome LZTR1-related schwannomatosis	Criteria Provided Conflicting Classifications		rs_143868364	7 SubmittersRCV001768491 RCV003458230 RCV004536285 RCV002425044 RCV003464128
NM_006767.4(LZTR1):c.1397G>T (p.Arg466Leu)	SNV Germline	Chr22:20993967	Conflicting classifications of pathogenicity	Condition: not provided LZTR1-related schwannomatosis Cardiovascular phenotype Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_587777180	4 SubmittersRCV001761449 RCV003447600 RCV002388649
NM_006767.4(LZTR1):c.1261-2A>G	SNV Germline	Chr22:20993660	Conflicting classifications of pathogenicity	Condition: not provided LZTR1-related schwannomatosis	Criteria Provided Conflicting Classifications		rs_759240190	3 SubmittersRCV001769173 RCV003470887
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		rs_2146966216	2 SubmittersRCV002466695 RCV004594587
NM_006767.4(LZTR1):c.993+1G>T	SNV Germline	Chr22:20991830	Pathogenic/Likely pathogenic	Condition: not provided LZTR1-related schwannomatosis Cardiovascular phenotype Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_770368435	5 SubmittersRCV001782415 RCV003470912 RCV002386563
NM_006767.4(LZTR1):c.320+1G>C	SNV Germline	Chr22:20985898	Likely pathogenic	Noonan syndrome 10 Hereditary cancer-predisposing syndrome Cardiovascular phenotype Condition: not provided LZTR1-related schwannomatosis	Criteria Provided Multiple Submitters No Conflicts		rs_943939913	4 SubmittersRCV001809170 RCV002324209 RCV003738099 RCV004571109
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		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 Schwannomatosis LZTR1-related schwannomatosis	Criteria Provided Multiple Submitters No Conflicts		rs_943939913	4 SubmittersRCV002324215 RCV002543322 RCV004699489 RCV003470941
NM_006767.4(LZTR1):c.2407-1G>A	SNV Germline	Chr22:20997231	Conflicting classifications of pathogenicity	Condition: not provided LZTR1-related schwannomatosis	Criteria Provided Conflicting Classifications		rs_200897030	2 SubmittersRCV001929465 RCV004571630
NM_006767.4(LZTR1):c.1943-1G>A	SNV Germline	Chr22:20995745	Likely pathogenic	Condition: not provided Cardiovascular phenotype Hereditary cancer-predisposing syndrome Noonan syndrome 10 Noonan syndrome 2 LZTR1-related schwannomatosis LZTR1-related schwannomatosis	Criteria Provided Multiple Submitters No Conflicts		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		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 LZTR1-related schwannomatosis not specified	Criteria Provided Conflicting Classifications		rs_199965510	3 SubmittersRCV001971453 RCV003447614 RCV002236195
NM_006767.4(LZTR1):c.1919C>T (p.Pro640Leu)	SNV Germline	Chr22:20995003	Conflicting classifications of pathogenicity	Condition: not provided LZTR1-related schwannomatosis Cardiovascular phenotype Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_866139168	4 SubmittersRCV002014943 RCV004571877 RCV002407230
NM_006767.4(LZTR1):c.1235G>A (p.Arg412His)	SNV Germline	Chr22:20992879	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		rs_935736801	4 SubmittersRCV002041193 RCV002361410 RCV002486744 RCV003388084
NM_006767.4(LZTR1):c.2152C>T (p.Gln718Ter)	SNV Germline	Chr22:20996045	Pathogenic/Likely pathogenic	Condition: not provided Cardiovascular phenotype Hereditary cancer-predisposing syndrome LZTR1-related schwannomatosis	Criteria Provided Multiple Submitters No Conflicts		rs_767482247	3 SubmittersRCV001993332 RCV002425320 RCV003464285
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		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	Criteria Provided Conflicting Classifications		rs_1051725799	4 SubmittersRCV002013915 RCV003471262 RCV004558801
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		rs_761956867	3 SubmittersRCV001941944 RCV003471156
NM_006767.4(LZTR1):c.465C>G (p.Tyr155Ter)	SNV Germline	Chr22:20988074	Pathogenic/Likely pathogenic	Noonan syndrome 10 Noonan syndrome 2 Cardiovascular phenotype Hereditary cancer-predisposing syndrome Condition: not provided LZTR1-related schwannomatosis Noonan syndrome 2 Noonan syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_753295968	8 SubmittersRCV002243491 RCV002331528 RCV002037971 RCV003389264 RCV003994364 RCV004017884
NM_006767.4(LZTR1):c.1957C>T (p.Gln653Ter)	SNV Germline	Chr22:20995760	Pathogenic/Likely pathogenic	Condition: not provided Cardiovascular phenotype Hereditary cancer-predisposing syndrome LZTR1-related schwannomatosis	Criteria Provided Multiple Submitters No Conflicts		rs_760312637	3 SubmittersRCV001941602 RCV004558762 RCV003471148
NM_006767.4(LZTR1):c.1616-2A>G	SNV Germline	Chr22:20994556	Likely pathogenic	Condition: not provided Cardiovascular phenotype Hereditary cancer-predisposing syndrome LZTR1-related schwannomatosis	Criteria Provided Multiple Submitters No Conflicts		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		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 LZTR1-related schwannomatosis Cardiovascular phenotype Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_1271934002	3 SubmittersRCV002030560 RCV003471231 RCV002425380
NM_006767.4(LZTR1):c.2284C>T (p.Gln762Ter)	SNV Germline	Chr22:20996760	Pathogenic	Condition: not provided Noonan syndrome 2 Schwannomatosis Cardiovascular phenotype Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1924868328	3 SubmittersRCV001972551 RCV003483868 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		rs_148031742	3 SubmittersRCV002008243 RCV003471228
NM_006767.4(LZTR1):c.115G>T (p.Glu39Ter)	SNV Germline	Chr22:20982486	Pathogenic/Likely pathogenic	Condition: not provided Cardiovascular phenotype Hereditary cancer-predisposing syndrome LZTR1-related schwannomatosis	Criteria Provided Multiple Submitters No Conflicts		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 Cardiovascular phenotype Hereditary cancer-predisposing syndrome LZTR1-related schwannomatosis	Criteria Provided Conflicting Classifications		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		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		rs_138036477	5 SubmittersRCV001968188 RCV002388938 RCV003388069 RCV004571757
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		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 Cardiovascular phenotype Hereditary cancer-predisposing syndrome LZTR1-related schwannomatosis	Criteria Provided Conflicting Classifications		rs_770974858	3 SubmittersRCV001918553 RCV002388816 RCV003471034
NM_006767.4(LZTR1):c.1078A>T (p.Lys360Ter)	SNV Germline	Chr22:20992298	Likely pathogenic	Noonan syndrome 2 Noonan syndrome 10 LZTR1-related schwannomatosis	Criteria Provided Single Submitter		rs_751308379	1 SubmittersRCV002244164
NM_006767.4(LZTR1):c.1682G>A (p.Arg561His)	SNV Germline	Chr22:20994624	Conflicting classifications of pathogenicity	Noonan syndrome 2 Hereditary cancer-predisposing syndrome Cardiovascular phenotype LZTR1-related disorder Condition: not provided LZTR1-related schwannomatosis	Criteria Provided Conflicting Classifications		rs_970027059	5 SubmittersRCV002249100 RCV002400401 RCV004545265 RCV003738162 RCV004572085
NM_006767.4(LZTR1):c.1942G>T (p.Gly648Cys)	SNV Germline	Chr22:20995026	Conflicting classifications of pathogenicity	LZTR1-related schwannomatosis Hereditary cancer-predisposing syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_1417500183	2 SubmittersRCV002266556 RCV002409628
NM_006767.4(LZTR1):c.400G>C (p.Gly134Arg)	SNV Germline	Chr22:20987583	Likely pathogenic	LZTR1-related schwannomatosis	Criteria Provided Single Submitter		rs_1440693988	1 SubmittersRCV002272718
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	Criteria Provided Conflicting Classifications			2 SubmittersRCV002452534 RCV003471337
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	Criteria Provided Conflicting Classifications			2 SubmittersRCV002460324 RCV003464453
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 Condition: not provided LZTR1-related disorder	Criteria Provided Conflicting Classifications			4 SubmittersRCV002342980 RCV003471345 RCV003688974 RCV004736158
NM_006767.4(LZTR1):c.791+1G>T	SNV Germline	Chr22:20990526	Pathogenic/Likely pathogenic	Cardiovascular phenotype Hereditary cancer-predisposing syndrome Condition: not provided LZTR1-related schwannomatosis	Criteria Provided Multiple Submitters No Conflicts			4 SubmittersRCV002416692 RCV003103453 RCV003471360
NM_006767.4(LZTR1):c.1260G>A (p.Gln420=)	SNV Germline	Chr22:20992904	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Cardiovascular phenotype Condition: not provided LZTR1-related schwannomatosis	Criteria Provided Conflicting Classifications			3 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	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV002377983 RCV003471358
NM_006767.4(LZTR1):c.1272C>G (p.Tyr424Ter)	SNV Germline	Chr22:20993673	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Cardiovascular phenotype LZTR1-related schwannomatosis	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV002449964 RCV003471369
NM_006767.4(LZTR1):c.1353+1G>T	SNV Germline	Chr22:20993755	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Cardiovascular phenotype LZTR1-related schwannomatosis Condition: not provided LZTR1-related disorder	Criteria Provided Conflicting Classifications			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			4 SubmittersRCV002383315 RCV003465717 RCV003146555
NM_006767.4(LZTR1):c.1360G>T (p.Glu454Ter)	SNV Germline	Chr22:20993930	Pathogenic/Likely pathogenic	Cardiovascular phenotype Hereditary cancer-predisposing syndrome LZTR1-related schwannomatosis	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV002383490 RCV004572410
NM_006767.4(LZTR1):c.994-1G>A	SNV Germline	Chr22:20992213	Likely pathogenic	Cardiovascular phenotype Hereditary cancer-predisposing syndrome LZTR1-related schwannomatosis Condition: not provided LZTR1-related disorder	Criteria Provided Multiple Submitters No Conflicts			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 LZTR1-related schwannomatosis Condition: not provided	Criteria Provided Multiple Submitters No Conflicts			3 SubmittersRCV002396764 RCV003465723 RCV003561011
NM_006767.4(LZTR1):c.1466C>G (p.Ala489Gly)	SNV Germline	Chr22:20994120	Conflicting classifications of pathogenicity	Cardiovascular phenotype Hereditary cancer-predisposing syndrome LZTR1-related schwannomatosis	Criteria Provided Conflicting Classifications			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	Criteria Provided Conflicting Classifications			2 SubmittersRCV002381107 RCV003465718
NM_006767.4(LZTR1):c.1616-1G>A	SNV Germline	Chr22:20994557	Likely pathogenic	Cardiovascular phenotype Hereditary cancer-predisposing syndrome Condition: not provided LZTR1-related schwannomatosis	Criteria Provided Multiple Submitters No Conflicts			3 SubmittersRCV002400971 RCV003097009 RCV003464528
NM_006767.4(LZTR1):c.2269C>T (p.Gln757Ter)	SNV Germline	Chr22:20996745	Pathogenic	Hereditary cancer-predisposing syndrome Cardiovascular phenotype Condition: not provided LZTR1-related schwannomatosis	Criteria Provided Multiple Submitters No Conflicts			4 SubmittersRCV002443841 RCV003098765 RCV003151409
NM_006767.4(LZTR1):c.201-1G>A	SNV Germline	Chr22:20983026	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Cardiovascular phenotype LZTR1-related schwannomatosis	Criteria Provided Conflicting Classifications			2 SubmittersRCV002417366 RCV003464542
NM_006767.4(LZTR1):c.26G>A (p.Gly9Glu)	SNV Germline	Chr22:20982397	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Cardiovascular phenotype LZTR1-related schwannomatosis Condition: not provided	Criteria Provided Conflicting Classifications			3 SubmittersRCV002437390 RCV003465763 RCV003561040
NM_006767.4(LZTR1):c.401-1G>A	SNV Germline	Chr22:20988009	Pathogenic	LZTR1-related schwannomatosis Noonan syndrome	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV002466951 RCV003336763
NM_006767.4(LZTR1):c.1702C>T (p.Gln568Ter)	SNV Germline	Chr22:20994644	Likely pathogenic	Condition: not provided LZTR1-related schwannomatosis	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV002467071 RCV003464566
NM_006767.4(LZTR1):c.651+1G>A	SNV Germline	Chr22:20989683	Likely pathogenic	LZTR1-related schwannomatosis Condition: not provided Hereditary cancer-predisposing syndrome Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts			3 SubmittersRCV002471321 RCV003720645 RCV003164738
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			4 SubmittersRCV002599490 RCV004560053 RCV004572790
NM_006767.4(LZTR1):c.200+1G>C	SNV Germline	Chr22:20982572	Likely pathogenic	Condition: not provided LZTR1-related schwannomatosis Cardiovascular phenotype Hereditary cancer-predisposing syndrome Noonan syndrome 10	Criteria Provided Multiple Submitters No Conflicts			4 SubmittersRCV002785496 RCV003475419 RCV004990860 RCV004786744
NM_006767.4(LZTR1):c.1149+1G>T	SNV Germline	Chr22:20992370	Pathogenic	Condition: not provided Cardiovascular phenotype Hereditary cancer-predisposing syndrome LZTR1-related schwannomatosis	Criteria Provided Multiple Submitters No Conflicts			3 SubmittersRCV002994987 RCV003170797 RCV003464647
NM_006767.4(LZTR1):c.200+2T>C	SNV Germline	Chr22:20982573	Likely pathogenic	Condition: not provided LZTR1-related schwannomatosis Hereditary cancer-predisposing syndrome Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts			4 SubmittersRCV003147132 RCV004572858 RCV004992577
NM_006767.4(LZTR1):c.2073C>G (p.Tyr691Ter)	SNV Germline	Chr22:20995966	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Cardiovascular phenotype Condition: not provided LZTR1-related schwannomatosis	Criteria Provided Multiple Submitters No Conflicts			3 SubmittersRCV003216358 RCV003549022 RCV003466040
NM_003073.5(SMARCB1):c.1118+2T>C	SNV Germline	Chr22:23833705	Pathogenic	SMARCB1-related schwannomatosis	Criteria Provided Single Submitter			1 SubmittersRCV003228217
NM_006767.4(LZTR1):c.2325+1G>A	SNV Germline	Chr22:20996802	Pathogenic	Condition: not provided LZTR1-related schwannomatosis	Criteria Provided Multiple Submitters No Conflicts			3 SubmittersRCV003319123 RCV003466056
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			2 SubmittersRCV003459855 RCV004529820
NM_000268.4(NF2):c.1340+1G>C	SNV Unknown	Chr22:29673487	Likely pathogenic	SMARCB1-related schwannomatosis	Criteria Provided Single Submitter			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			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			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			1 SubmittersRCV003470017
NM_006767.4(LZTR1):c.2069+1G>A	SNV Germline	Chr22:20995873	Likely pathogenic	LZTR1-related schwannomatosis Condition: not provided	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003470023 RCV003779050
NM_006767.4(LZTR1):c.401-2A>C	SNV Germline	Chr22:20988008	Likely pathogenic	LZTR1-related schwannomatosis Cardiovascular phenotype Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003470027 RCV004992610
NM_006767.4(LZTR1):c.263+3G>C	SNV Unknown	Chr22:20983092	Likely pathogenic	LZTR1-related schwannomatosis	Criteria Provided Single Submitter			1 SubmittersRCV003461821
NM_006767.4(LZTR1):c.1365C>A (p.Cys455Ter)	SNV Germline	Chr22:20993935	Pathogenic/Likely pathogenic	LZTR1-related schwannomatosis Hereditary cancer-predisposing syndrome Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003470033 RCV004560182
NM_006767.4(LZTR1):c.994-2A>T	SNV Germline	Chr22:20992212	Likely pathogenic	LZTR1-related schwannomatosis Condition: not provided	Criteria Provided Multiple Submitters No Conflicts			3 SubmittersRCV004573357 RCV003845562
NM_006767.4(LZTR1):c.495G>A (p.Trp165Ter)	SNV Germline	Chr22:20988104	Pathogenic	Emery-Dreifuss muscular dystrophy Schwannomatosis	Criteria Provided Single Submitter			1 SubmittersRCV004527095 RCV004579633
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	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV004576835 RCV004994438
NM_006767.4(LZTR1):c.400+2T>G	SNV Unknown	Chr22:20987585	Likely pathogenic	LZTR1-related schwannomatosis	Criteria Provided Single Submitter			1 SubmittersRCV004576842
NM_006767.4(LZTR1):c.855C>A (p.Tyr285Ter)	SNV Germline	Chr22:20991691	Pathogenic/Likely pathogenic	Noonan syndrome 2 Noonan syndrome 10 LZTR1-related schwannomatosis Cardiovascular phenotype Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV004795631 RCV004994475

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

SNV
Germline

Chr22:23787203

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA119228

rs_74315513

3 SubmittersRCV000008490 RCV003555975 RCV003278655

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

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA150700

rs_587777176

14 SubmittersRCV000087292 RCV002498472 RCV004700409 RCV002426650 RCV001291541 RCV004786368 RCV003126498

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

SNV
Germline

Chr22:20987548

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA150701

rs_587777177

9 SubmittersRCV001200448 RCV002453416 RCV003315228 RCV004529907 RCV004786369 RCV000087293

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

SNV
Germline

Chr22:20995865

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA150702

rs_587777178

9 SubmittersRCV001055087 RCV002415585 RCV004529908 RCV004776273 RCV000087294

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

SNV
Germline

Chr22:20993967

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA150704

rs_587777180

10 SubmittersRCV000087296 RCV001260384 RCV001813376 RCV001312780 RCV002390252 RCV004815183

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
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome
LZTR1-related schwannomatosis
RASopathy
Noonan syndrome 1
LZTR1-related disorder

Reviewed By Expert Panel

CA358852

rs_869320686

25 SubmittersRCV000191027 RCV000413889 RCV000763072 RCV001526613 RCV002381647 RCV003988835 RCV004576927 RCV004698786 RCV004734846

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

SNV
Germline

Chr22:20991686

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA204980

rs_797045165

11 SubmittersRCV000191028 RCV000658480 RCV000763073 RCV004530087 RCV004796089 RCV002444774

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

SNV
Germline

Chr22:23834262

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10583893

rs_878854600

5 SubmittersRCV000231611 RCV000626834 RCV000656363 RCV003298297

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

SNV
Germline

Chr22:20993966

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10118872

rs_550922200

9 SubmittersRCV000355063 RCV001797700 RCV002392792 RCV003236580 RCV004535249

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
Schwannomatosis
RASopathy
Noonan syndrome 10

Reviewed By Expert Panel

CA10118715

rs_189150283

16 SubmittersRCV000329167 RCV001706423 RCV001799649 RCV001813447 RCV002252087 RCV002429235 RCV000736158 RCV000763074 RCV001193024 RCV004732473 RCV003387519

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
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10146036

rs_752910574

3 SubmittersRCV000269507 RCV000308154 RCV000365158 RCV001417685 RCV000572980

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

SNV
Germline

Chr22:29695161

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10645249

rs_572307337

3 SubmittersRCV000307146 RCV002488733 RCV003221940

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
Hereditary cancer-predisposing syndrome
Rhabdoid tumor predisposition syndrome 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10145992

rs_762962010

5 SubmittersRCV000299341 RCV000337956 RCV001024873 RCV001789772 RCV000559614

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

SNV
Germline

Chr22:23803435

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10145998

rs_184021903

11 SubmittersRCV000407869 RCV001335092 RCV000361783 RCV000431220 RCV001528356 RCV002255370

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_006767.4(LZTR1):c.509G>A (p.Arg170Gln)

SNV
Germline

Chr22:20988118

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10118451

rs_781431741

8 SubmittersRCV000482299 RCV002341137 RCV004722819 RCV001542701 RCV004541521 RCV003991579

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

Criteria Provided
Conflicting Classifications

CA10119384

rs_141672122

5 SubmittersRCV000481440 RCV001507320 RCV002455940 RCV003470588

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
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome
LZTR1-related schwannomatosis
LZTR1-related disorder

Criteria Provided
Conflicting Classifications

CA10119101

rs_148677674

8 SubmittersRCV000499922 RCV001454598 RCV001584206 RCV002413371 RCV003494569 RCV004535572

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

SNV
Germline

Chr22:20992370

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA322328053

rs_767191322

7 SubmittersRCV000522778 RCV002456013 RCV004568672

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
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
Schwannomatosis
LZTR1-related schwannomatosis

Criteria Provided
Multiple Submitters
No Conflicts

CA10118698

rs_149850248

14 SubmittersRCV000578630 RCV001293930 RCV002358639 RCV004767415 RCV001310194

NM_006767.4(LZTR1):c.26G>C (p.Gly9Ala)

SNV
Germline

Chr22:20982397

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10118269

rs_756485244

7 SubmittersRCV001055587 RCV002291680 RCV001199922 RCV002438612 RCV003465360

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

SNV
Germline

Chr22:20987584

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA410779488

rs_1555927561

3 SubmittersRCV001855308 RCV004767447 RCV004559255

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

SNV
Germline

Chr22:20995490

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10119150

rs_761685529

9 SubmittersRCV000681140 RCV000735432 RCV003465362 RCV002413779 RCV003336096

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

Criteria Provided
Conflicting Classifications

CA037304

rs_201214090

7 SubmittersRCV000632640 RCV000765629 RCV001249076 RCV001010465 RCV001198705 RCV004723000

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

SNV
Germline

Chr22:20994728

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_145594158

7 SubmittersRCV000658061 RCV002406499 RCV001788313 RCV002248854

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

SNV
Germline

Chr22:20982334

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1459786357

6 SubmittersRCV000754921 RCV002245073 RCV002499144 RCV002360688 RCV002462004 RCV003465433

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

SNV
Germline

Chr22:20993712

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_770933647

4 SubmittersRCV002386139 RCV000754920 RCV001855426 RCV004568485

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

SNV
Germline

Chr22:20991684

Pathogenic/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
LZTR1-related disorder
LZTR1-related schwannomatosis
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1223430276

15 SubmittersRCV000681082 RCV000761304 RCV001813545 RCV002233108 RCV003151134 RCV003991581 RCV004535698 RCV004568578 RCV004993935

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

SNV
Germline

Chr22:20994939

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_373488966

8 SubmittersRCV000681434 RCV002406527 RCV004568579 RCV004788107 RCV004559347 RCV004584403

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

SNV
Germline

Chr22:20994985

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_770312150

5 SubmittersRCV000681112 RCV002406522 RCV003459657 RCV003323682

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

SNV
Germline

Chr22:20995805

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_776005012

4 SubmittersRCV000680839 RCV002422461 RCV003459656

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

SNV
Germline

Chr22:29681483

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_774824164

6 SubmittersRCV000685036 RCV000765630 RCV001012452

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

SNV
Germline

Chr22:20996679

Likely pathogenic

Noonan syndrome 2
LZTR1-related schwannomatosis

Criteria Provided
Single Submitter

rs_1249726034

2 SubmittersRCV000735430 RCV003465672

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

SNV
Germline

Chr22:20989659

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_150419186

12 SubmittersRCV000735431 RCV000760481 RCV001330297 RCV002290002 RCV002360863 RCV004535887

NM_006767.4(LZTR1):c.361C>G (p.His121Asp)

SNV
Germline

Chr22:20987544

Likely pathogenic

Noonan syndrome 2
LZTR1-related schwannomatosis

Criteria Provided
Single Submitter

rs_1569154492

2 SubmittersRCV000735434 RCV003989594

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

SNV
Germline

Chr22:20988095

Pathogenic

LZTR1-related schwannomatosis
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1569154722

2 SubmittersRCV000785628 RCV001380282

NM_000268.4(NF2):c.363+1G>A

SNV
Germline

Chr22:29639213

Pathogenic

Condition: not provided
SMARCB1-related schwannomatosis

Criteria Provided
Single Submitter

rs_1601583839

2 SubmittersRCV000786799 RCV002272353

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

SNV
Germline

Chr22:20997287

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1275511136

8 SubmittersRCV000787273 RCV004535916 RCV004698789 RCV003133592 RCV004559650 RCV003989603

NM_006767.4(LZTR1):c.2232G>A (p.Ala744=)

SNV
Germline

Chr22:20996708

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_139261473

7 SubmittersRCV001269237 RCV002427447 RCV002549986 RCV004569843

NM_006767.4(LZTR1):c.2309T>C (p.Val770Ala)

SNV
Germline

Chr22:20996785

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_752880731

5 SubmittersRCV000997881 RCV003467559 RCV002445152 RCV004702564

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

SNV
Germline

Chr22:20997230

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1158550690

9 SubmittersRCV000997883 RCV001291825 RCV002454247 RCV003227886

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

SNV
Germline

Chr22:23803362

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1601405064

4 SubmittersRCV001195823 RCV001024411 RCV001365280 RCV003127587

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

SNV
Germline

Chr22:20982393

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

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

rs_568213908

4 SubmittersRCV001060885 RCV002411569 RCV003462586

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

SNV
Germline

Chr22:20990526

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

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

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

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

Criteria Provided
Conflicting Classifications

rs_764439278

5 SubmittersRCV001201227 RCV003469318 RCV001859216 RCV002447045

NM_006767.4(LZTR1):c.488C>T (p.Thr163Met)

SNV
Germline

Chr22:20988097

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_200806641

6 SubmittersRCV001203002 RCV001813580 RCV003490116 RCV002339507 RCV003469324

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

SNV
Germline

Chr22:20991817

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

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
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
LZTR1-related schwannomatosis

Criteria Provided
Multiple Submitters
No Conflicts

rs_982944299

4 SubmittersRCV001202111 RCV002402575 RCV003469321

NM_006767.4(LZTR1):c.1700G>A (p.Arg567His)

SNV
Germline

Chr22:20994642

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_372417941

6 SubmittersRCV001243402 RCV001290606 RCV002291738 RCV002402775 RCV002466649

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

SNV
Germline

Chr22:20991830

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_770368435

7 SubmittersRCV001250472 RCV001379899 RCV002379954 RCV004769972 RCV003462828

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

rs_745476291

4 SubmittersRCV001251317 RCV002430053 RCV004570642 RCV003698851

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

SNV
Germline

Chr22:20996793

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

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

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
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
Schwannomatosis

Criteria Provided
Multiple Submitters
No Conflicts

rs_749437251

4 SubmittersRCV002543010 RCV003469506 RCV002375333 RCV004699277

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

SNV
Germline

Chr22:20987536

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_769001939

6 SubmittersRCV001314262 RCV002225132 RCV002456412

NM_006767.4(LZTR1):c.1019G>A (p.Arg340Gln)

SNV
Germline

Chr22:20992239

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_368589786

4 SubmittersRCV001326639 RCV004587123 RCV002357164 RCV003469555

NM_006767.4(LZTR1):c.1354A>G (p.Lys452Glu)

SNV
Germline

Chr22:20993924

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_200296313

5 SubmittersRCV001320934 RCV002384413 RCV003469545 RCV004526110

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

Criteria Provided
Conflicting Classifications

rs_565364639

4 SubmittersRCV001313523 RCV002402878 RCV004570739

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

Criteria Provided
Conflicting Classifications

rs_151000791

5 SubmittersRCV001314421 RCV002418948 RCV002265981 RCV004570744

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

SNV
Germline

Chr22:20997253

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_776893978

8 SubmittersRCV001320703 RCV002447356 RCV002271641 RCV004545200 RCV003447589 RCV004815363

NM_006767.4(LZTR1):c.1183G>A (p.Val395Ile)

SNV
Germline

Chr22:20992827

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_373591504

5 SubmittersRCV001342538 RCV002222702 RCV003469574 RCV004557552 RCV002341702

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

SNV
Germline

Chr22:20983090

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_761241914

5 SubmittersRCV001377270 RCV002432059 RCV003462947 RCV004545823

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

SNV
Germline

Chr22:23800945

Pathogenic

Condition: not provided
Schwannomatosis

Criteria Provided
Single Submitter

rs_1929106223

2 SubmittersRCV001390133 RCV002243179

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

SNV
Germline

Chr22:20991782

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_370315661

7 SubmittersRCV001420965 RCV002449141 RCV003154035 RCV004728717 RCV001806178 RCV003470846

NM_006767.4(LZTR1):c.1412G>A (p.Arg471His)

SNV
Germline

Chr22:20993982

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_139031749

6 SubmittersRCV001420790 RCV002395958 RCV003444868 RCV001882535 RCV003470845

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

rs_1374011263

3 SubmittersRCV001552275 RCV003463049 RCV004995942

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

SNV
Germline

Chr22:23801964

Pathogenic

Schwannomatosis

Criteria Provided
Single Submitter

rs_2145980559

1 SubmittersRCV001824473

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

SNV
Germline

Chr22:23801968

Pathogenic

Schwannomatosis

Criteria Provided
Single Submitter

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
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome
Noonan syndrome 2
Noonan syndrome 10

Criteria Provided
Conflicting Classifications

rs_370638947

9 SubmittersRCV001573375 RCV001824176 RCV002421210 RCV004587183 RCV004785282

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

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
LZTR1-related schwannomatosis
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1301901369

6 SubmittersRCV001723275 RCV004571070 RCV002449402

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

SNV
Germline

Chr22:20992213

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_758238174

5 SubmittersRCV001732427 RCV003464126 RCV002386508

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

SNV
Germline

Chr22:20992905

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_143868364

7 SubmittersRCV001768491 RCV003458230 RCV004536285 RCV002425044 RCV003464128

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

SNV
Germline

Chr22:20993967

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_587777180

4 SubmittersRCV001761449 RCV003447600 RCV002388649

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

SNV
Germline

Chr22:20993660

Conflicting classifications of pathogenicity

Condition: not provided
LZTR1-related schwannomatosis

Criteria Provided
Conflicting Classifications

rs_759240190

3 SubmittersRCV001769173 RCV003470887

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

rs_2146966216

2 SubmittersRCV002466695 RCV004594587

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

SNV
Germline

Chr22:20991830

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_770368435

5 SubmittersRCV001782415 RCV003470912 RCV002386563

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

SNV
Germline

Chr22:20985898

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_943939913

4 SubmittersRCV001809170 RCV002324209 RCV003738099 RCV004571109

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

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
Schwannomatosis
LZTR1-related schwannomatosis

Criteria Provided
Multiple Submitters
No Conflicts

rs_943939913

4 SubmittersRCV002324215 RCV002543322 RCV004699489 RCV003470941

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

SNV
Germline

Chr22:20997231

Conflicting classifications of pathogenicity

Condition: not provided
LZTR1-related schwannomatosis

Criteria Provided
Conflicting Classifications

rs_200897030

2 SubmittersRCV001929465 RCV004571630

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

SNV
Germline

Chr22:20995745

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

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

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
LZTR1-related schwannomatosis
not specified

Criteria Provided
Conflicting Classifications

rs_199965510

3 SubmittersRCV001971453 RCV003447614 RCV002236195

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

SNV
Germline

Chr22:20995003

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_866139168

4 SubmittersRCV002014943 RCV004571877 RCV002407230

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

SNV
Germline

Chr22:20992879

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

rs_935736801

4 SubmittersRCV002041193 RCV002361410 RCV002486744 RCV003388084

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

SNV
Germline

Chr22:20996045

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_767482247

3 SubmittersRCV001993332 RCV002425320 RCV003464285

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

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

Criteria Provided
Conflicting Classifications

rs_1051725799

4 SubmittersRCV002013915 RCV003471262 RCV004558801

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

rs_761956867

3 SubmittersRCV001941944 RCV003471156

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

SNV
Germline

Chr22:20988074

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_753295968

8 SubmittersRCV002243491 RCV002331528 RCV002037971 RCV003389264 RCV003994364 RCV004017884

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

SNV
Germline

Chr22:20995760

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_760312637

3 SubmittersRCV001941602 RCV004558762 RCV003471148

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

SNV
Germline

Chr22:20994556

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

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

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
LZTR1-related schwannomatosis
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1271934002

3 SubmittersRCV002030560 RCV003471231 RCV002425380

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

SNV
Germline

Chr22:20996760

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1924868328

3 SubmittersRCV001972551 RCV003483868 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

rs_148031742

3 SubmittersRCV002008243 RCV003471228

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

SNV
Germline

Chr22:20982486

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

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
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome
LZTR1-related schwannomatosis

Criteria Provided
Conflicting Classifications

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

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

rs_138036477

5 SubmittersRCV001968188 RCV002388938 RCV003388069 RCV004571757

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

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
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome
LZTR1-related schwannomatosis

Criteria Provided
Conflicting Classifications

rs_770974858

3 SubmittersRCV001918553 RCV002388816 RCV003471034

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

SNV
Germline

Chr22:20992298

Likely pathogenic

Noonan syndrome 2
Noonan syndrome 10
LZTR1-related schwannomatosis

Criteria Provided
Single Submitter

rs_751308379

1 SubmittersRCV002244164

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

SNV
Germline

Chr22:20994624

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_970027059

5 SubmittersRCV002249100 RCV002400401 RCV004545265 RCV003738162 RCV004572085

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

SNV
Germline

Chr22:20995026

Conflicting classifications of pathogenicity

LZTR1-related schwannomatosis
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_1417500183

2 SubmittersRCV002266556 RCV002409628

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

SNV
Germline

Chr22:20987583

Likely pathogenic

LZTR1-related schwannomatosis

Criteria Provided
Single Submitter

rs_1440693988

1 SubmittersRCV002272718

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

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002452534 RCV003471337

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

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002460324 RCV003464453

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
Condition: not provided
LZTR1-related disorder

Criteria Provided
Conflicting Classifications

4 SubmittersRCV002342980 RCV003471345 RCV003688974 RCV004736158

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

SNV
Germline

Chr22:20990526

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

4 SubmittersRCV002416692 RCV003103453 RCV003471360

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

SNV
Germline

Chr22:20992904

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

3 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

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002377983 RCV003471358

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

SNV
Germline

Chr22:20993673

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
LZTR1-related schwannomatosis

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002449964 RCV003471369

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

SNV
Germline

Chr22:20993755

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

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

4 SubmittersRCV002383315 RCV003465717 RCV003146555

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

SNV
Germline

Chr22:20993930

Pathogenic/Likely pathogenic

Cardiovascular phenotype
Hereditary cancer-predisposing syndrome
LZTR1-related schwannomatosis

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002383490 RCV004572410

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

SNV
Germline

Chr22:20992213

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

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
LZTR1-related schwannomatosis
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV002396764 RCV003465723 RCV003561011

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

SNV
Germline

Chr22:20994120

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Hereditary cancer-predisposing syndrome
LZTR1-related schwannomatosis

Criteria Provided
Conflicting Classifications

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

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002381107 RCV003465718

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

SNV
Germline

Chr22:20994557

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV002400971 RCV003097009 RCV003464528

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

SNV
Germline

Chr22:20996745

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

4 SubmittersRCV002443841 RCV003098765 RCV003151409

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

SNV
Germline

Chr22:20983026

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
LZTR1-related schwannomatosis

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002417366 RCV003464542

NM_006767.4(LZTR1):c.26G>A (p.Gly9Glu)

SNV
Germline

Chr22:20982397

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

3 SubmittersRCV002437390 RCV003465763 RCV003561040

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

SNV
Germline

Chr22:20988009

Pathogenic

LZTR1-related schwannomatosis
Noonan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002466951 RCV003336763

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

SNV
Germline

Chr22:20994644

Likely pathogenic

Condition: not provided
LZTR1-related schwannomatosis

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002467071 RCV003464566

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

SNV
Germline

Chr22:20989683

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV002471321 RCV003720645 RCV003164738

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

4 SubmittersRCV002599490 RCV004560053 RCV004572790

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

SNV
Germline

Chr22:20982572

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

4 SubmittersRCV002785496 RCV003475419 RCV004990860 RCV004786744

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

SNV
Germline

Chr22:20992370

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV002994987 RCV003170797 RCV003464647

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

SNV
Germline

Chr22:20982573

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

4 SubmittersRCV003147132 RCV004572858 RCV004992577

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

SNV
Germline

Chr22:20995966

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV003216358 RCV003549022 RCV003466040

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

SNV
Germline

Chr22:23833705

Pathogenic

SMARCB1-related schwannomatosis

Criteria Provided
Single Submitter

1 SubmittersRCV003228217

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

SNV
Germline

Chr22:20996802

Pathogenic

Condition: not provided
LZTR1-related schwannomatosis

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV003319123 RCV003466056

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

2 SubmittersRCV003459855 RCV004529820

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

SNV
Unknown

Chr22:29673487

Likely pathogenic

SMARCB1-related schwannomatosis

Criteria Provided
Single Submitter

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

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

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

1 SubmittersRCV003470017

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

SNV
Germline

Chr22:20995873

Likely pathogenic

LZTR1-related schwannomatosis
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003470023 RCV003779050

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

SNV
Germline

Chr22:20988008

Likely pathogenic

LZTR1-related schwannomatosis
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003470027 RCV004992610

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

SNV
Unknown

Chr22:20983092

Likely pathogenic

LZTR1-related schwannomatosis

Criteria Provided
Single Submitter

1 SubmittersRCV003461821

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

SNV
Germline

Chr22:20993935

Pathogenic/Likely pathogenic

LZTR1-related schwannomatosis
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003470033 RCV004560182

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

SNV
Germline

Chr22:20992212

Likely pathogenic

LZTR1-related schwannomatosis
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV004573357 RCV003845562

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

SNV
Germline

Chr22:20988104

Pathogenic

Emery-Dreifuss muscular dystrophy
Schwannomatosis

Criteria Provided
Single Submitter

1 SubmittersRCV004527095 RCV004579633

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

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004576835 RCV004994438

NM_006767.4(LZTR1):c.400+2T>G

SNV
Unknown

Chr22:20987585

Likely pathogenic

LZTR1-related schwannomatosis

Criteria Provided
Single Submitter

1 SubmittersRCV004576842

NM_006767.4(LZTR1):c.855C>A (p.Tyr285Ter)

SNV
Germline

Chr22:20991691

Pathogenic/Likely pathogenic

Noonan syndrome 2
Noonan syndrome 10
LZTR1-related schwannomatosis
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004795631 RCV004994475