Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_006363.6(SEC23B):c.325G>A (p.Glu109Lys)	SNV Germline	Chr20:18515695	Pathogenic	Congenital dyserythropoietic anemia, type II Condition: not provided Cowden syndrome 7 Congenital dyserythropoietic anemia, type II SEC23B-related disorder See cases	Criteria Provided Multiple Submitters No Conflicts	CA114843	rs_121918221	16 SubmittersRCV000001281 RCV000081407 RCV000688348 RCV004547453 RCV004797746
NM_006363.6(SEC23B):c.40C>T (p.Arg14Trp)	SNV Germline	Chr20:18510875	Pathogenic/Likely pathogenic	Congenital dyserythropoietic anemia, type II Condition: not provided Cowden syndrome 7 Congenital dyserythropoietic anemia, type II SEC23B-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA114846	rs_121918222	15 SubmittersRCV000001282 RCV000153924 RCV000688744 RCV004724725
NM_006363.6(SEC23B):c.1588C>T (p.Arg530Trp)	SNV Germline	Chr20:18543095	Conflicting classifications of pathogenicity	Congenital dyserythropoietic anemia, type II Condition: not provided Cowden syndrome 7 Congenital dyserythropoietic anemia, type II	Criteria Provided Conflicting Classifications	CA114849	rs_121918223	4 SubmittersRCV000001283 RCV003480015 RCV003764507
NM_006363.6(SEC23B):c.790C>T (p.Arg264Ter)	SNV Germline	Chr20:18525888	Pathogenic	Congenital dyserythropoietic anemia, type II Condition: not provided Cowden syndrome 7 Congenital dyserythropoietic anemia, type II	Criteria Provided Multiple Submitters No Conflicts	CA114851	rs_121918224	3 SubmittersRCV000001284 RCV001092534 RCV001384733
NM_006363.6(SEC23B):c.970C>T (p.Arg324Ter)	SNV Germline	Chr20:18526508	Pathogenic	Congenital dyserythropoietic anemia, type II Cowden syndrome 7 Congenital dyserythropoietic anemia, type II Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA114853	rs_121918225	5 SubmittersRCV000001285 RCV002512638 RCV003137483
NM_006363.6(SEC23B):c.649C>T (p.Arg217Ter)	SNV Germline	Chr20:18524980	Pathogenic/Likely pathogenic	Congenital dyserythropoietic anemia, type II Condition: not provided Cowden syndrome 7 Congenital dyserythropoietic anemia, type II	Criteria Provided Multiple Submitters No Conflicts	CA114855	rs_121918226	6 SubmittersRCV000001286 RCV000153926 RCV002496226
NM_003002.4(SDHD):c.106C>T (p.Gln36Ter)	SNV Germline	Chr11:112087910	Pathogenic	Paragangliomas 1 Hereditary cancer-predisposing syndrome Pheochromocytoma Paragangliomas with sensorineural hearing loss Carney-Stratakis syndrome Cowden syndrome 3	Criteria Provided Multiple Submitters No Conflicts	CA016759	rs_104894303	4 SubmittersRCV000007295 RCV000492417 RCV001851718
NM_003002.4(SDHD):c.112C>T (p.Arg38Ter)	SNV Germline	Chr11:112087916	Pathogenic	Paragangliomas 1 Hereditary pheochromocytoma-paraganglioma Condition: not provided Hereditary cancer-predisposing syndrome Pheochromocytoma Carney-Stratakis syndrome Cowden syndrome 3 Paragangliomas with sensorineural hearing loss	Criteria Provided Multiple Submitters No Conflicts	CA016789	rs_80338843	12 SubmittersRCV000007296 RCV000020518 RCV000486967 RCV000492087 RCV002228000
NM_003002.4(SDHD):c.34G>A (p.Gly12Ser)	SNV Germline	Chr11:112086941	Conflicting classifications of pathogenicity	Cowden syndrome 3 Paragangliomas 1 Pheochromocytoma Condition: not provided not specified Hereditary cancer-predisposing syndrome Carney-Stratakis syndrome Mitochondrial complex 2 deficiency, nuclear type 3 Pheochromocytoma Carney-Stratakis syndrome Cowden syndrome 3 Paragangliomas with sensorineural hearing loss	Criteria Provided Conflicting Classifications	CA016980	rs_34677591	26 SubmittersRCV000007299 RCV000007300 RCV000007302 RCV000034697 RCV000122006 RCV000162470 RCV000988742 RCV001807000 RCV002228001
NM_003002.4(SDHD):c.242C>T (p.Pro81Leu)	SNV Germline/somatic	Chr11:112088939	Pathogenic/Likely pathogenic	Paragangliomas 1 Pheochromocytoma Hereditary pheochromocytoma-paraganglioma Hereditary cancer-predisposing syndrome Condition: not provided Pheochromocytoma Paragangliomas 1 Carney-Stratakis syndrome Mitochondrial complex II deficiency, nuclear type 1 Mitochondrial complex II deficiency, nuclear type 1 Pheochromocytoma Paragangliomas with sensorineural hearing loss Carney-Stratakis syndrome Cowden syndrome 3 Mitochondrial complex 2 deficiency, nuclear type 3 SDHD-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA016688	rs_80338844	25 SubmittersRCV000007303 RCV000007304 RCV000020519 RCV000162448 RCV000216073 RCV000763227 RCV002221470 RCV002228002 RCV003472995 RCV004748507
NM_003002.4(SDHD):c.274G>T (p.Asp92Tyr)	SNV Germline	Chr11:112088971	Pathogenic/Likely pathogenic	Paragangliomas 1 Hereditary pheochromocytoma-paraganglioma Hereditary cancer-predisposing syndrome Condition: not provided Paragangliomas 4 Pheochromocytoma Paragangliomas with sensorineural hearing loss Carney-Stratakis syndrome Cowden syndrome 3	Criteria Provided Multiple Submitters No Conflicts	CA016702	rs_80338845	8 SubmittersRCV000007305 RCV000020520 RCV000567104 RCV001701480 RCV002288471 RCV002512869
NM_003002.4(SDHD):c.305A>T (p.His102Leu)	SNV Germline	Chr11:112089002	Pathogenic	Paragangliomas 1 Hereditary cancer-predisposing syndrome Pheochromocytoma Paragangliomas with sensorineural hearing loss Carney-Stratakis syndrome Cowden syndrome 3	Criteria Provided Multiple Submitters No Conflicts	CA016665	rs_104894302	3 SubmittersRCV000007307 RCV000566289 RCV002228003
NM_003002.4(SDHD):c.341A>G (p.Tyr114Cys)	SNV Germline	Chr11:112094831	Pathogenic	Paragangliomas 1 Hereditary pheochromocytoma-paraganglioma Hereditary cancer-predisposing syndrome Condition: not provided Pheochromocytoma Paragangliomas with sensorineural hearing loss Carney-Stratakis syndrome Cowden syndrome 3	Criteria Provided Multiple Submitters No Conflicts	CA016797	rs_104894304	9 SubmittersRCV000007309 RCV000155750 RCV000221353 RCV001810833 RCV002228004
NM_003002.4(SDHD):c.95C>A (p.Ser32Ter)	SNV Germline	Chr11:112087899	Pathogenic	Paragangliomas 1 Hereditary pheochromocytoma-paraganglioma Pheochromocytoma Paragangliomas with sensorineural hearing loss Carney-Stratakis syndrome Cowden syndrome 3 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA016746	rs_104894305	7 SubmittersRCV000007310 RCV000505384 RCV002228005 RCV002381243 RCV004791197
NM_003002.4(SDHD):c.64C>T (p.Arg22Ter)	SNV Germline	Chr11:112087868	Pathogenic	Paragangliomas 1 Pheochromocytoma Hereditary cancer-predisposing syndrome Condition: not provided Pheochromocytoma Paragangliomas with sensorineural hearing loss Carney-Stratakis syndrome Cowden syndrome 3 Hereditary pheochromocytoma-paraganglioma	Criteria Provided Multiple Submitters No Conflicts	CA016739	rs_104894306	7 SubmittersRCV000007312 RCV000193132 RCV000492341 RCV000657641 RCV002228006 RCV004802924
NM_003002.4(SDHD):c.3G>C (p.Met1Ile)	SNV Germline	Chr11:112086910	Pathogenic	Paragangliomas 1 Hereditary pheochromocytoma-paraganglioma Hereditary cancer-predisposing syndrome Pheochromocytoma Paragangliomas with sensorineural hearing loss Carney-Stratakis syndrome Cowden syndrome 3	Criteria Provided Multiple Submitters No Conflicts	CA016987	rs_80338842	5 SubmittersRCV000007315 RCV000020522 RCV000492533 RCV002228007
NM_003002.4(SDHD):c.1A>G (p.Met1Val)	SNV Germline	Chr11:112086908	Pathogenic	Pheochromocytoma Paragangliomas with sensorineural hearing loss Carney-Stratakis syndrome Cowden syndrome 3 Paragangliomas 1 Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA016859	rs_104894307	3 SubmittersRCV002228010 RCV004018582 RCV004948132
NM_003002.4(SDHD):c.129G>A (p.Trp43Ter)	SNV Germline	Chr11:112087933	Pathogenic	Paragangliomas 1 Hereditary cancer-predisposing syndrome Condition: not provided Pheochromocytoma Paragangliomas with sensorineural hearing loss Carney-Stratakis syndrome Cowden syndrome 3	Criteria Provided Multiple Submitters No Conflicts	CA016785	rs_104894308	5 SubmittersRCV000007322 RCV000222413 RCV000756632 RCV002512871
NM_003002.4(SDHD):c.33C>A (p.Cys11Ter)	SNV Germline	Chr11:112086940	Pathogenic	Pheochromocytoma Hereditary cancer-predisposing syndrome Pheochromocytoma Paragangliomas with sensorineural hearing loss Carney-Stratakis syndrome Cowden syndrome 3 Paragangliomas 1	Criteria Provided Multiple Submitters No Conflicts	CA016967	rs_104894309	7 SubmittersRCV000007324 RCV000221327 RCV002228012 RCV002288472
NM_003002.4(SDHD):c.14G>A (p.Trp5Ter)	SNV Germline	Chr11:112086921	Pathogenic	Pheochromocytoma Paragangliomas with sensorineural hearing loss Carney-Stratakis syndrome Cowden syndrome 3 Hereditary cancer-predisposing syndrome Paragangliomas 1	Criteria Provided Multiple Submitters No Conflicts	CA016834	rs_104894310	3 SubmittersRCV001851719 RCV004018584 RCV004018583
NM_000314.8(PTEN):c.386G>A (p.Gly129Glu)	SNV Germline/somatic	Chr10:87933145	Pathogenic/Likely pathogenic	Cowden syndrome 1 PTEN hamartoma tumor syndrome Hereditary cancer-predisposing syndrome Malignant tumor of urinary bladder Condition: not provided Neoplasm	Criteria Provided Multiple Submitters No Conflicts	CA000431	rs_121909218	8 SubmittersRCV000008255 RCV000490577 RCV001021326 RCV003332076 RCV000413815 RCV004668707
NM_000314.8(PTEN):c.697C>T (p.Arg233Ter)	SNV Germline/somatic	Chr10:87957915	Pathogenic/Likely pathogenic	Cowden syndrome 1 PTEN hamartoma tumor syndrome Hereditary cancer-predisposing syndrome Condition: not provided Macrocephaly-autism syndrome Cowden syndrome Ovarian neoplasm Abnormal cardiovascular system morphology Gastric cancer Glioma susceptibility 2 PTEN-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA000549	rs_121909219	30 SubmittersRCV000008256 RCV000128455 RCV000162649 RCV000212882 RCV000477737 RCV000678740 RCV000785383 RCV001327980 RCV003162216 RCV003466836 RCV004532309
NM_000314.8(PTEN):c.469G>T (p.Glu157Ter)	SNV Germline	Chr10:87933228	Pathogenic	Lhermitte-Duclos disease PTEN hamartoma tumor syndrome Hereditary cancer-predisposing syndrome Cowden syndrome 1	Reviewed By Expert Panel	CA000467	rs_121909220	5 SubmittersRCV000008258 RCV000735259 RCV002336078 RCV003450618
NM_000314.8(PTEN):c.510T>A (p.Ser170Arg)	SNV Germline	Chr10:87952135	Pathogenic	Cowden syndrome 1 PTEN hamartoma tumor syndrome	Reviewed By Expert Panel	CA000492	rs_121909221	2 SubmittersRCV000008259 RCV000735267
NM_000314.8(PTEN):c.368A>G (p.His123Arg)	SNV Germline	Chr10:87933127	Pathogenic	Cowden syndrome 1 Condition: not provided PTEN hamartoma tumor syndrome PTEN-related disorder	Reviewed By Expert Panel	CA000418	rs_121909222	6 SubmittersRCV000008260 RCV000518927 RCV000735264 RCV004528091
NM_000314.8(PTEN):c.370T>C (p.Cys124Arg)	SNV Germline	Chr10:87933129	Pathogenic	Cowden syndrome 1 Condition: not provided PTEN hamartoma tumor syndrome Hereditary cancer-predisposing syndrome Gastric cancer	Reviewed By Expert Panel	CA000422	rs_121909223	7 SubmittersRCV000008261 RCV000485809 RCV000700581 RCV001020947 RCV003162217
NM_000314.8(PTEN):c.388C>T (p.Arg130Ter)	SNV Germline/somatic	Chr10:87933147	Pathogenic	Macrocephaly-autism syndrome Cowden syndrome 1 Condition: not provided PTEN hamartoma tumor syndrome Hereditary cancer-predisposing syndrome Ovarian neoplasm Rhabdomyosarcoma Abnormal cardiovascular system morphology Glioma susceptibility 2 Familial meningioma Malignant tumor of prostate Glioma susceptibility 2 Cowden syndrome 1 Macrocephaly-autism syndrome Gastric cancer Cowden syndrome 1 Macrocephaly-autism syndrome PTEN-related disorder Neoplasm	Criteria Provided Multiple Submitters No Conflicts	CA000433	rs_121909224	42 SubmittersRCV000008265 RCV000008263 RCV000078615 RCV000199099 RCV000132187 RCV000424529 RCV001257555 RCV001327978 RCV001542771 RCV002476944 RCV003162218 RCV003326115 RCV004532310 RCV004668708
NM_000314.8(PTEN):c.253+1G>A	SNV Germline/somatic	Chr10:87931090	Pathogenic	Endometrial carcinoma Condition: not provided PTEN hamartoma tumor syndrome Cowden syndrome 1 Hereditary cancer-predisposing syndrome Neoplasm Glioma susceptibility 2	Criteria Provided Multiple Submitters No Conflicts	CA000362	rs_587776667	9 SubmittersRCV000008266 RCV000433259 RCV000529512 RCV000516042 RCV001015856 RCV004668709 RCV003460435
NM_000314.8(PTEN):c.492+2T>G	SNV Germline	Chr10:87933253	Pathogenic	Cowden syndrome 1 PTEN hamartoma tumor syndrome Condition: not provided	Reviewed By Expert Panel	CA000475	rs_1554898244	5 SubmittersRCV000008267 RCV000790897 RCV002510769
NM_000314.8(PTEN):c.104T>G (p.Met35Arg)	SNV Germline	Chr10:87894049	Pathogenic	Cowden syndrome 1 PTEN hamartoma tumor syndrome	Reviewed By Expert Panel	CA000268	rs_121909225	4 SubmittersRCV000008271 RCV000790896
NM_000314.8(PTEN):c.209T>C (p.Leu70Pro)	SNV Germline	Chr10:87925557	Likely pathogenic	Cowden syndrome 1 PTEN hamartoma tumor syndrome Hereditary cancer-predisposing syndrome Malignant tumor of prostate Glioma susceptibility 2 Cowden syndrome 1 Familial meningioma Macrocephaly-autism syndrome	Reviewed By Expert Panel	CA000350	rs_121909226	4 SubmittersRCV000008272 RCV000758229 RCV004018588 RCV002496305
NM_000314.8(PTEN):c.640C>T (p.Gln214Ter)	SNV Germline	Chr10:87957858	Pathogenic	Cowden syndrome 1 Macrocephaly-autism syndrome Condition: not provided Hereditary cancer-predisposing syndrome PTEN hamartoma tumor syndrome	Criteria Provided Multiple Submitters No Conflicts	CA000538	rs_121909227	6 SubmittersRCV000008273 RCV000416592 RCV000657583 RCV001025234 RCV001204841
NM_000314.8(PTEN):c.766G>T (p.Glu256Ter)	SNV Germline	Chr10:87957984	Pathogenic	Cowden syndrome 1 PTEN hamartoma tumor syndrome	Reviewed By Expert Panel	CA000569	rs_121909228	2 SubmittersRCV000008274 RCV000735265
NM_000314.8(PTEN):c.389G>A (p.Arg130Gln)	SNV Germline/somatic	Chr10:87933148	Pathogenic	Cowden syndrome 1 Hereditary cancer-predisposing syndrome PTEN hamartoma tumor syndrome Cowden syndrome Condition: not provided PTEN-related disorder Ovarian neoplasm	Reviewed By Expert Panel	CA000437	rs_121909229	19 SubmittersRCV000008275 RCV000131067 RCV000178761 RCV002228017 RCV000212880 RCV004734504 RCV000427853
NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter)	SNV Germline/somatic	Chr10:87961095	Pathogenic	Proteus-like syndrome Condition: not provided Cowden syndrome 1 Hereditary cancer-predisposing syndrome PTEN hamartoma tumor syndrome Macrocephaly-autism syndrome PTEN-related disorder Cowden syndrome 1 Macrocephaly-autism syndrome Ovarian neoplasm Cowden syndrome Cowden syndrome Macrocephaly-autism syndrome Abnormality of the nervous system Familial meningioma Malignant tumor of prostate Glioma susceptibility 2 Cowden syndrome 1 Macrocephaly-autism syndrome Familial cancer of breast Neoplasm	Criteria Provided Multiple Submitters No Conflicts	CA000245	rs_121909231	36 SubmittersRCV000008281 RCV000078601 RCV000033179 RCV000162409 RCV000197423 RCV000414819 RCV000677405 RCV000679881 RCV000785564 RCV001174674 RCV001824562 RCV001813965 RCV002476945 RCV002272011 RCV004668710
NM_000314.8(PTEN):c.633C>A (p.Cys211Ter)	SNV Germline/somatic	Chr10:87952258	Pathogenic	Melanoma Cowden syndrome 1 Hereditary cancer-predisposing syndrome PTEN hamartoma tumor syndrome Condition: not provided PTEN-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA000536	rs_121909232	11 SubmittersRCV000008284 RCV000409569 RCV000490942 RCV000820375 RCV001269918 RCV004528092
NM_000314.8(PTEN):c.278A>G (p.His93Arg)	SNV Germline	Chr10:87933037	Pathogenic	Macrocephaly-autism syndrome PTEN hamartoma tumor syndrome Hereditary cancer-predisposing syndrome Condition: not provided Cowden syndrome 1	Reviewed By Expert Panel	CA000381	rs_121909238	8 SubmittersRCV000008298 RCV000645075 RCV002433447 RCV003137501 RCV003450619
NM_000314.8(PTEN):c.755A>G (p.Asp252Gly)	SNV Germline	Chr10:87957973	Pathogenic	Macrocephaly-autism syndrome PTEN hamartoma tumor syndrome Condition: not provided Hereditary cancer-predisposing syndrome Cowden syndrome 1 Glioma susceptibility 2	Reviewed By Expert Panel	CA000564	rs_121909239	8 SubmittersRCV000008299 RCV000758222 RCV001775539 RCV002390096 RCV003450620 RCV003460437
NM_000314.8(PTEN):c.395G>T (p.Gly132Val)	SNV Germline	Chr10:87933154	Pathogenic/Likely pathogenic	PTEN hamartoma tumor syndrome Cowden syndrome 1 Hereditary cancer-predisposing syndrome Condition: not provided Glioma susceptibility 2 PTEN-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA000446	rs_121909241	8 SubmittersRCV000008302 RCV000656691 RCV000221956 RCV000489810 RCV003460438 RCV004532311
NM_003000.3(SDHB):c.487T>C (p.Ser163Pro)	SNV Germline	Chr1:17027802	Conflicting classifications of pathogenicity	Cowden syndrome Condition: not provided not specified Hereditary cancer-predisposing syndrome Paragangliomas 4 Pheochromocytoma Paragangliomas 4 Gastrointestinal stromal tumor Hereditary pheochromocytoma-paraganglioma Gastrointestinal stromal tumor Carney-Stratakis syndrome Malignant tumor of breast	Criteria Provided Conflicting Classifications	CA015910	rs_33927012	29 SubmittersRCV000013633 RCV000034688 RCV000122002 RCV000132153 RCV000202946 RCV000206861 RCV000282667 RCV000986263 RCV001099292 RCV001269360
NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu)	SNV Germline/somatic	Chr3:179234297	Pathogenic	Breast adenocarcinoma CLOVES syndrome PIK3CA related overgrowth syndrome Macrodactyly of toe Stroke disorder Cowden syndrome 1 CLAPO syndrome Megalencephaly-capillary malformation-polymicrogyria syndrome Ovarian neoplasm CEREBRAL CAVERNOUS MALFORMATIONS 4, SOMATIC Condition: not provided Hemihypertrophy Cavernous lymphangioma Neoplasm Colorectal cancer Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA123328	rs_121913279	13 SubmittersRCV000014629 RCV000032905 RCV000201235 RCV000626894 RCV000987367 RCV000709692 RCV001253236 RCV000422323 RCV001728092 RCV002254265 RCV001526597 RCV004527292 RCV004668728 RCV001807728 RCV004649064
NM_001382430.1(AKT1):c.49G>A (p.Glu17Lys)	SNV Germline/somatic	Chr14:104780214	Pathogenic	Breast adenocarcinoma Carcinoma of colon Ovarian neoplasm Proteus syndrome Condition: not provided Neoplasm Cowden syndrome 6	Criteria Provided Multiple Submitters No Conflicts	CA123660	rs_121434592	6 SubmittersRCV000015017 RCV000015018 RCV000015019 RCV000031926 RCV001813745 RCV004668732 RCV000795313
NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys)	SNV Germline/somatic	Chr3:179218294	Pathogenic	CLOVES syndrome Ovarian neoplasm Non-small cell lung carcinoma Condition: not provided CEREBRAL CAVERNOUS MALFORMATIONS 4, SOMATIC Abnormal cardiovascular system morphology Cowden syndrome HEMIFACIAL MYOHYPERPLASIA, SOMATIC CLAPO syndrome PIK3CA-related overgrowth PIK3CA-related disorder Megalencephaly-capillary malformation-polymicrogyria syndrome Lip and oral cavity carcinoma Cerebrofacial Vascular Metameric Syndrome (CVMS) Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes Rare venous malformation PIK3CA related overgrowth syndrome Neoplasm	Reviewed By Expert Panel	CA333572	rs_121913273	18 SubmittersRCV000024622 RCV000151649 RCV000154513 RCV000416776 RCV001728093 RCV001327962 RCV002513230 RCV003764635 RCV000709693 RCV003987334 RCV004532404 RCV004698785 RCV001255687 RCV001730477 RCV001836714 RCV004527296 RCV003458190 RCV004668742
NM_006218.4(PIK3CA):c.1258T>C (p.Cys420Arg)	SNV Germline/somatic	Chr3:179210192	Pathogenic	CLOVES syndrome CLAPO syndrome Ovarian neoplasm PIK3CA related overgrowth syndrome Rare combined vascular malformation Cowden syndrome Segmental undergrowth associated with lymphatic malformation Condition: not provided Abnormal cardiovascular system morphology Capillary malformation Neoplasm	Criteria Provided Multiple Submitters No Conflicts	CA180900	rs_121913272	15 SubmittersRCV000024623 RCV000709694 RCV000154512 RCV000201232 RCV004527297 RCV003588566 RCV001705599 RCV002054475 RCV001327960 RCV001526612 RCV004668743
NM_006218.4(PIK3CA):c.2740G>A (p.Gly914Arg)	SNV Germline/somatic	Chr3:179230077	Pathogenic	Megalencephaly-capillary malformation-polymicrogyria syndrome Condition: not provided Abnormal cardiovascular system morphology Cowden syndrome 5 Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes Cowden syndrome Angioosteohypertrophic syndrome Abnormal cerebral morphology PIK3CA related overgrowth syndrome CLOVES syndrome PIK3CA-related disorder Inborn genetic diseases	Reviewed By Expert Panel	CA130467	rs_587776932	19 SubmittersRCV000032907 RCV000414672 RCV001327966 RCV001594376 RCV001836717 RCV001852661 RCV002254272 RCV002274888 RCV003233078 RCV004798751 RCV004737167 RCV004955261
NM_006218.4(PIK3CA):c.1133G>A (p.Cys378Tyr)	SNV Germline/somatic	Chr3:179204576	Pathogenic	Megalencephaly-capillary malformation-polymicrogyria syndrome PIK3CA related overgrowth syndrome Cowden syndrome PIK3CA-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA130469	rs_397514565	7 SubmittersRCV000032908 RCV000201233 RCV000806643 RCV004532477
NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr)	SNV Germline/somatic	Chr3:179234296	Pathogenic	Megalencephaly-capillary malformation-polymicrogyria syndrome Non-small cell lung carcinoma Cowden syndrome 13 conditions Condition: not provided Segmental undergrowth associated with mainly venous malformation with capillary component CLOVES syndrome PIK3CA related overgrowth syndrome HEMIFACIAL MYOHYPERPLASIA, SOMATIC PIK3CA overgrowth syndrome Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA130471	rs_121913281	13 SubmittersRCV000032909 RCV000038675 RCV000698423 RCV000763508 RCV001092441 RCV001705625 RCV002226661 RCV003233079 RCV003882732 RCV004698336 RCV004955262
NM_001382430.1(AKT1):c.73C>T (p.Arg25Cys)	SNV Germline	Chr14:104780190	Pathogenic	Cowden syndrome 6	No Assertion Criteria Provided	CA130749	rs_397514644	1 SubmittersRCV000033177
NM_001382430.1(AKT1):c.1303A>C (p.Thr435Pro)	SNV Germline	Chr14:104770805	Pathogenic	Cowden syndrome 6	No Assertion Criteria Provided	CA130755	rs_397514645	1 SubmittersRCV000033178
NM_000314.8(PTEN):c.202T>A (p.Tyr68Asn)	SNV Germline	Chr10:87925550	Conflicting classifications of pathogenicity	Condition: not provided Cowden syndrome 1 PTEN hamartoma tumor syndrome	Criteria Provided Conflicting Classifications	CA000340	rs_398123317	3 SubmittersRCV000078608 RCV003453006 RCV003509489
NM_000314.8(PTEN):c.331T>C (p.Trp111Arg)	SNV Germline	Chr10:87933090	Likely pathogenic	Condition: not provided PTEN hamartoma tumor syndrome Cowden syndrome 1 Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA000401	rs_398123321	6 SubmittersRCV000078613 RCV000758231 RCV001807780 RCV002321573
NM_000314.8(PTEN):c.395G>A (p.Gly132Asp)	SNV Germline/somatic	Chr10:87933154	Pathogenic	Condition: not provided PTEN hamartoma tumor syndrome Hereditary cancer-predisposing syndrome Cowden syndrome 1 Glioma susceptibility 2	Reviewed By Expert Panel	CA000444	rs_121909241	13 SubmittersRCV000078616 RCV000544638 RCV001021527 RCV001808308 RCV004566945
NM_006363.6(SEC23B):c.1571C>T (p.Ala524Val)	SNV Germline	Chr20:18543078	Pathogenic/Likely pathogenic	Congenital dyserythropoietic anemia, type II Congenital dyserythropoietic anemia, type II Cowden syndrome 7 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA222937	rs_398124225	4 SubmittersRCV001843475 RCV003764767 RCV000081403
NM_006363.6(SEC23B):c.689+1G>A	SNV Germline	Chr20:18525021	Pathogenic	Condition: not provided Congenital dyserythropoietic anemia, type II Cowden syndrome 7 Congenital dyserythropoietic anemia, type II Cowden syndrome 7	Criteria Provided Multiple Submitters No Conflicts	CA222943	rs_398124226	5 SubmittersRCV000081409 RCV000689848 RCV001195899 RCV002288579
NM_001382430.1(AKT1):c.138C>A (p.Asp46Glu)	SNV Germline	Chr14:104780125	Conflicting classifications of pathogenicity	not specified Cowden syndrome 6 Condition: not provided Hereditary cancer AKT1-related disorder	Criteria Provided Conflicting Classifications	CA156577	rs_146875699	6 SubmittersRCV000119959 RCV000231031 RCV002305447 RCV003492516 RCV003965004
NM_003002.4(SDHD):c.101T>G (p.Phe34Cys)	SNV Germline	Chr11:112087905	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Condition: not provided Cowden syndrome 3 Pheochromocytoma Paragangliomas with sensorineural hearing loss Carney-Stratakis syndrome Paragangliomas 1 Hereditary pheochromocytoma-paraganglioma SDHD-related disorder	Criteria Provided Conflicting Classifications	CA016754	rs_141802836	7 SubmittersRCV000122008 RCV000569765 RCV001545828 RCV002228410 RCV003230259 RCV003997358 RCV004748588
NM_003002.4(SDHD):c.278A>G (p.Tyr93Cys)	SNV Germline	Chr11:112088975	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Condition: not provided Paragangliomas with sensorineural hearing loss Cowden syndrome 3 Pheochromocytoma Carney-Stratakis syndrome SDHD-related disorder Mitochondrial complex 2 deficiency, nuclear type 3	Criteria Provided Conflicting Classifications	CA016634	rs_142135772	10 SubmittersRCV000122009 RCV000130895 RCV001546458 RCV002228625 RCV003398736 RCV003474733
NM_003002.4(SDHD):c.255G>T (p.Leu85Phe)	SNV Germline	Chr11:112088952	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Paragangliomas with sensorineural hearing loss Cowden syndrome 3 Pheochromocytoma Carney-Stratakis syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA016696	rs_199517389	4 SubmittersRCV000122010 RCV000568887 RCV002515893 RCV004998244
NM_000314.8(PTEN):c.379G>A (p.Gly127Arg)	SNV Germline	Chr10:87933138	Likely pathogenic	PTEN hamartoma tumor syndrome Condition: not provided Hereditary cancer-predisposing syndrome Cowden syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA000426	rs_587781255	4 SubmittersRCV000128454 RCV000479167 RCV001021176 RCV003453057
NM_000314.8(PTEN):c.493-2A>G	SNV Germline/somatic	Chr10:87952116	Pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Cowden syndrome 1 PTEN hamartoma tumor syndrome	Reviewed By Expert Panel	CA000478	rs_587781784	8 SubmittersRCV000130038 RCV000254682 RCV000515821 RCV000710293
NM_000314.8(PTEN):c.48T>A (p.Tyr16Ter)	SNV Germline	Chr10:87864517	Pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided PTEN hamartoma tumor syndrome Cowden syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA000471	rs_587782187	4 SubmittersRCV000130817 RCV000212878 RCV000477134 RCV003453078
NM_003002.4(SDHD):c.155C>A (p.Ser52Ter)	SNV Germline	Chr11:112087959	Pathogenic	Hereditary cancer-predisposing syndrome Paragangliomas with sensorineural hearing loss Cowden syndrome 3 Carney-Stratakis syndrome Pheochromocytoma	Criteria Provided Multiple Submitters No Conflicts	CA016773	rs_587782210	2 SubmittersRCV000130886 RCV002514740
NM_000314.8(PTEN):c.737C>T (p.Pro246Leu)	SNV Germline	Chr10:87957955	Pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Cowden syndrome 1 Gastric cancer Breast and/or ovarian cancer PTEN hamartoma tumor syndrome	Reviewed By Expert Panel	CA000559	rs_587782350	17 SubmittersRCV000131292 RCV000212883 RCV000660237 RCV003162587 RCV001270998 RCV000613031
NM_000314.8(PTEN):c.403A>G (p.Ile135Val)	SNV Germline/somatic	Chr10:87933162	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided PTEN hamartoma tumor syndrome Ovarian neoplasm Cowden syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA000448	rs_587782360	5 SubmittersRCV000131316 RCV000521053 RCV000645036 RCV000785581 RCV003453083
NM_000314.8(PTEN):c.802-2A>T	SNV Germline	Chr10:87960892	Pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Cowden syndrome 1 PTEN hamartoma tumor syndrome PTEN-related disorder	Reviewed By Expert Panel	CA000591	rs_587782455	10 SubmittersRCV000131528 RCV000212884 RCV000516134 RCV000710295 RCV004532571
NM_000314.8(PTEN):c.493G>T (p.Gly165Ter)	SNV Germline	Chr10:87952118	Pathogenic	Hereditary cancer-predisposing syndrome Cowden syndrome 1 PTEN hamartoma tumor syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA000480	rs_587782603	4 SubmittersRCV000131967 RCV003453088 RCV003509496 RCV001092597
NM_000314.8(PTEN):c.822G>A (p.Trp274Ter)	SNV Germline	Chr10:87960914	Pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided PTEN hamartoma tumor syndrome Cowden syndrome 1 PTEN-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA000599	rs_587782607	7 SubmittersRCV000131976 RCV000507265 RCV000697400 RCV002055846 RCV004528860
NM_003002.4(SDHD):c.205G>A (p.Glu69Lys)	SNV Germline	Chr11:112088902	Conflicting classifications of pathogenicity	Mitochondrial complex 2 deficiency, nuclear type 3 Condition: not provided Mitochondrial complex II deficiency, nuclear type 1 Paragangliomas with sensorineural hearing loss Cowden syndrome 3 Carney-Stratakis syndrome Pheochromocytoma Hereditary cancer-predisposing syndrome SDHD-related disorder	Criteria Provided Conflicting Classifications	CA016681	rs_202198133	6 SubmittersRCV000144171 RCV000484125 RCV001290090 RCV002515941 RCV002415627 RCV004748597
NM_003002.4(SDHD):c.479G>T (p.Ter160Leu)	SNV Germline	Chr11:112094969	Conflicting classifications of pathogenicity	Mitochondrial complex 2 deficiency, nuclear type 3 not specified Hereditary pheochromocytoma-paraganglioma Hereditary cancer-predisposing syndrome Condition: not provided Paragangliomas with sensorineural hearing loss Cowden syndrome 3 Carney-Stratakis syndrome Pheochromocytoma	Criteria Provided Conflicting Classifications	CA016726	rs_201372601	9 SubmittersRCV000144172 RCV000454533 RCV000505355 RCV001023072 RCV000994727 RCV002228513
NM_006218.4(PIK3CA):c.353G>A (p.Gly118Asp)	SNV Germline/somatic	Chr3:179199690	Pathogenic	Cowden syndrome 5 Keratoacanthoma Condition: not provided Angioosteohypertrophic syndrome Cowden syndrome PIK3CA related overgrowth syndrome	Criteria Provided Multiple Submitters No Conflicts	CA170883	rs_587777790	6 SubmittersRCV000144506 RCV001849317 RCV001726000 RCV002254279 RCV002512561 RCV004719712
NM_006218.4(PIK3CA):c.403G>A (p.Glu135Lys)	SNV Germline	Chr3:179199740	Pathogenic	Cowden syndrome 5	No Assertion Criteria Provided	CA170885	rs_587777791	1 SubmittersRCV000144507
NM_006218.4(PIK3CA):c.652G>A (p.Glu218Lys)	SNV Germline	Chr3:179201379	Pathogenic	Cowden syndrome 5	No Assertion Criteria Provided	CA170887	rs_587777792	1 SubmittersRCV000144508
NM_006218.4(PIK3CA):c.1066G>A (p.Val356Ile)	SNV Germline	Chr3:179204509	Pathogenic	Cowden syndrome 5	No Assertion Criteria Provided	CA170889	rs_587777793	1 SubmittersRCV000144509
NM_006218.4(PIK3CA):c.1145G>A (p.Arg382Lys)	SNV Germline	Chr3:179204588	Conflicting classifications of pathogenicity	Cowden syndrome 5 Condition: not provided	No Assertion Criteria Provided	CA170891	rs_587777794	2 SubmittersRCV000144510 RCV000782194
NM_006218.4(PIK3CA):c.1895T>G (p.Leu632Ter)	SNV Germline	Chr3:179219719	Pathogenic	Cowden syndrome 5	No Assertion Criteria Provided	CA170893	rs_587777796	1 SubmittersRCV000144512
NM_006218.4(PIK3CA):c.3129G>A (p.Met1043Ile)	SNV Germline/somatic	Chr3:179234286	Pathogenic/Likely pathogenic	Non-small cell lung carcinoma PIK3CA related overgrowth syndrome Cowden syndrome Megalencephaly-capillary malformation-polymicrogyria syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA183868	rs_121913283	5 SubmittersRCV000155959 RCV000201237 RCV000699681 RCV001526545 RCV002293423
NM_006363.6(SEC23B):c.1648C>T (p.Arg550Ter)	SNV Germline	Chr20:18543155	Pathogenic	Condition: not provided Congenital dyserythropoietic anemia, type II Cowden syndrome 7 Congenital dyserythropoietic anemia, type II SEC23B-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA234909	rs_199939108	7 SubmittersRCV000153929 RCV001849321 RCV002514962 RCV004737239
NM_006363.6(SEC23B):c.74C>A (p.Pro25His)	SNV Germline	Chr20:18510909	Conflicting classifications of pathogenicity	Condition: not provided Congenital dyserythropoietic anemia, type II Congenital dyserythropoietic anemia, type II Cowden syndrome 7 Cowden syndrome 7	Criteria Provided Conflicting Classifications	CA234903	rs_6045440	7 SubmittersRCV000153925 RCV000490449 RCV001082004 RCV001335411
NM_006363.6(SEC23B):c.1489C>T (p.Arg497Cys)	SNV Germline	Chr20:18542380	Pathogenic	Condition: not provided Congenital dyserythropoietic anemia, type II Congenital dyserythropoietic anemia, type II Cowden syndrome 7 SEC23B-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA234906	rs_727504145	6 SubmittersRCV000153928 RCV000779341 RCV001850108 RCV004737238
NM_000314.8(PTEN):c.70G>C (p.Asp24His)	SNV Germline/somatic	Chr10:87864539	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome not specified Ovarian neoplasm PTEN hamartoma tumor syndrome Cowden syndrome 1 Glioma	Criteria Provided Multiple Submitters No Conflicts	CA000187	rs_786201995	6 SubmittersRCV000165524 RCV000678734 RCV000785578 RCV001315436 RCV001523840 RCV004798791
NM_000314.8(PTEN):c.165-1G>A	SNV Germline	Chr10:87925512	Likely pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided PTEN hamartoma tumor syndrome Cowden syndrome 1	Reviewed By Expert Panel	CA000129	rs_786203847	6 SubmittersRCV000167333 RCV000212879 RCV000710306 RCV002288765
NM_000314.8(PTEN):c.261A>G (p.Gln87=)	SNV Germline	Chr10:87933020	Conflicting classifications of pathogenicity	Cowden syndrome 1 Hereditary cancer-predisposing syndrome PTEN hamartoma tumor syndrome not specified	Criteria Provided Conflicting Classifications	CA000137	rs_149772796	8 SubmittersRCV000412378 RCV000166821 RCV000545595 RCV000612380
NM_000314.8(PTEN):c.406T>C (p.Cys136Arg)	SNV Germline/somatic	Chr10:87933165	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Acute megakaryoblastic leukemia Mediastinal germ cell tumor Condition: not provided PTEN hamartoma tumor syndrome Cowden syndrome Ovarian neoplasm Glioma susceptibility 2 Cowden syndrome 1 Glioma	Criteria Provided Multiple Submitters No Conflicts	CA000151	rs_786201044	14 SubmittersRCV000162428 RCV000202582 RCV000212881 RCV000463307 RCV000587477 RCV000785388 RCV003462114 RCV003389317 RCV004798789
NM_000314.8(PTEN):c.475A>G (p.Arg159Gly)	SNV Germline	Chr10:87933234	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Cowden syndrome PTEN hamartoma tumor syndrome	Criteria Provided Multiple Submitters No Conflicts	CA000161	rs_786202688	5 SubmittersRCV000165624 RCV000760049 RCV001193513 RCV002515152
NM_000314.8(PTEN):c.540C>G (p.Tyr180Ter)	SNV Germline	Chr10:87952165	Pathogenic	Hereditary cancer-predisposing syndrome Cowden syndrome 1 PTEN hamartoma tumor syndrome	Criteria Provided Multiple Submitters No Conflicts	CA000175	rs_786202733	3 SubmittersRCV000165694 RCV003316046 RCV003509505
NM_000314.8(PTEN):c.733C>T (p.Gln245Ter)	SNV Germline/somatic	Chr10:87957951	Pathogenic	Hereditary cancer-predisposing syndrome PTEN hamartoma tumor syndrome Condition: not provided Cowden syndrome 1 Neoplasm	Criteria Provided Multiple Submitters No Conflicts	CA000193	rs_786202918	9 SubmittersRCV000165985 RCV000490581 RCV000756578 RCV003454410 RCV004668826
NM_000314.8(PTEN):c.830C>T (p.Thr277Ile)	SNV Germline/somatic	Chr10:87960922	Pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Cowden syndrome PTEN hamartoma tumor syndrome Macrocephaly-autism syndrome Neoplasm	Reviewed By Expert Panel	CA000207	rs_398123329	7 SubmittersRCV000163498 RCV001559615 RCV001269397 RCV003454396 RCV003493469 RCV004668823
NM_000314.8(PTEN):c.1026+1G>A	SNV Germline/somatic	Chr10:87961119	Pathogenic	Hereditary cancer-predisposing syndrome Cowden syndrome 1 PTEN hamartoma tumor syndrome Condition: not provided	Reviewed By Expert Panel	CA000103	rs_786201041	8 SubmittersRCV000162423 RCV000515989 RCV000710314 RCV001528105
NM_003002.4(SDHD):c.304C>A (p.His102Asn)	SNV Germline	Chr11:112089001	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Pheochromocytoma Cowden syndrome 3 Carney-Stratakis syndrome Paragangliomas with sensorineural hearing loss	Criteria Provided Multiple Submitters No Conflicts	CA016659	rs_786202403	2 SubmittersRCV000165195 RCV002228740
NM_003002.4(SDHD):c.412G>A (p.Gly138Arg)	SNV Germline	Chr11:112094902	Likely pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Pheochromocytoma Cowden syndrome 3 Carney-Stratakis syndrome Paragangliomas with sensorineural hearing loss	Criteria Provided Multiple Submitters No Conflicts	CA017004	rs_786203932	3 SubmittersRCV000167450 RCV000478572 RCV002228995
NM_000314.8(PTEN):c.49C>T (p.Gln17Ter)	SNV Germline	Chr10:87864518	Pathogenic	Hereditary cancer-predisposing syndrome PTEN hamartoma tumor syndrome not specified Cowden syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA000485	rs_786204910	5 SubmittersRCV000169851 RCV000204017 RCV001002035 RCV003454440
NM_000314.8(PTEN):c.70G>T (p.Asp24Tyr)	SNV Germline	Chr10:87864539	Pathogenic	Condition: not provided Cowden syndrome 1 PTEN-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA000552	rs_786201995	3 SubmittersRCV000169787 RCV003454429 RCV004535153
NM_000314.8(PTEN):c.77C>T (p.Thr26Ile)	SNV Germline	Chr10:87864546	Pathogenic/Likely pathogenic	PTEN hamartoma tumor syndrome See cases Cowden syndrome 1 Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_786204853	4 SubmittersRCV001065725 RCV001420273 RCV001263192 RCV002408731
NM_000314.8(PTEN):c.182A>G (p.His61Arg)	SNV Germline/somatic	Chr10:87925530	Likely pathogenic	PTEN hamartoma tumor syndrome Hereditary cancer-predisposing syndrome Ovarian neoplasm Cowden syndrome 1	Reviewed By Expert Panel	CA000332	rs_398123316	6 SubmittersRCV000490582 RCV000491953 RCV000785574 RCV003454430
NM_000314.8(PTEN):c.202T>C (p.Tyr68His)	SNV Germline	Chr10:87925550	Pathogenic/Likely pathogenic	Condition: not provided Cowden syndrome 1 Hereditary cancer-predisposing syndrome PTEN hamartoma tumor syndrome Cowden syndrome 1 Macrocephaly-autism syndrome Glioma susceptibility 2 Cowden syndrome 1 Malignant tumor of prostate Glioma susceptibility 2 Macrocephaly-autism syndrome Familial meningioma Macrocephaly-autism syndrome	Criteria Provided Multiple Submitters No Conflicts	CA000342	rs_398123317	11 SubmittersRCV000169864 RCV000499784 RCV000491290 RCV000552740 RCV003313047 RCV003462271 RCV002505225 RCV003231353
NM_000314.8(PTEN):c.253+1G>T	SNV Germline	Chr10:87931090	Pathogenic	Condition: not provided Cowden syndrome 1 PTEN hamartoma tumor syndrome Hereditary cancer-predisposing syndrome Macrocephaly-autism syndrome	Criteria Provided Multiple Submitters No Conflicts	CA000364	rs_587776667	6 SubmittersRCV000169865 RCV000515902 RCV000645046 RCV002453570 RCV001836741
NM_000314.8(PTEN):c.367C>T (p.His123Tyr)	SNV Germline	Chr10:87933126	Pathogenic/Likely pathogenic	Condition: not provided PTEN hamartoma tumor syndrome Cowden syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA000417	rs_786204931	5 SubmittersRCV000169876 RCV000554647 RCV002288777
NM_000314.8(PTEN):c.385G>A (p.Gly129Arg)	SNV Germline	Chr10:87933144	Pathogenic/Likely pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome PTEN hamartoma tumor syndrome Cowden syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA000429	rs_786204929	5 SubmittersRCV000169874 RCV000570808 RCV000988419 RCV003454441
NM_000314.8(PTEN):c.407G>A (p.Cys136Tyr)	SNV Germline/somatic	Chr10:87933166	Pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome PTEN hamartoma tumor syndrome Malignant tumor of urinary bladder Cowden syndrome 1	Reviewed By Expert Panel	CA000451	rs_786204859	6 SubmittersRCV000169797 RCV000217011 RCV000552515 RCV003332137 RCV003454431
NM_000314.8(PTEN):c.448G>T (p.Glu150Ter)	SNV Germline	Chr10:87933207	Pathogenic	Hereditary cancer-predisposing syndrome PTEN hamartoma tumor syndrome Cowden syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA000460	rs_786204934	3 SubmittersRCV000491120 RCV001202091 RCV003454442
NM_000314.8(PTEN):c.511C>T (p.Gln171Ter)	SNV Germline	Chr10:87952136	Pathogenic	Condition: not provided PTEN hamartoma tumor syndrome Hereditary cancer-predisposing syndrome Cowden syndrome 1 PTEN-related disorder	Reviewed By Expert Panel	CA000494	rs_786204864	8 SubmittersRCV000169804 RCV000233297 RCV000491520 RCV003454432 RCV004535154
NM_000314.8(PTEN):c.512A>G (p.Gln171Arg)	SNV Germline	Chr10:87952137	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome PTEN hamartoma tumor syndrome Macrocephaly-autism syndrome Familial meningioma Malignant tumor of prostate Cowden syndrome 1 Glioma susceptibility 2	Criteria Provided Conflicting Classifications	CA000496	rs_786204865	4 SubmittersRCV000582640 RCV002345569 RCV002515206 RCV002505224
NM_000314.8(PTEN):c.517C>T (p.Arg173Cys)	SNV Germline/somatic	Chr10:87952142	Pathogenic	not specified Cowden syndrome 1 PTEN hamartoma tumor syndrome Glioma susceptibility 2 Condition: not provided Neurodevelopmental delay Malignant lymphoma, large B-cell, diffuse Hereditary cancer-predisposing syndrome Macrocephaly-autism syndrome VACTERL with hydrocephalus Cowden syndrome 1 Macrocephaly-autism syndrome Familial meningioma Malignant tumor of prostate Glioma susceptibility 2 Cowden syndrome 1	Reviewed By Expert Panel	CA000498	rs_121913293	19 SubmittersRCV000678738 RCV001813763 RCV000490574 RCV003468848 RCV000169890 RCV002273970 RCV003448976 RCV000218276 RCV000850588 RCV002478525
NM_000314.8(PTEN):c.801+1G>A	SNV Germline	Chr10:87958020	Pathogenic/Likely pathogenic	Condition: not provided PTEN hamartoma tumor syndrome Cowden syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA000584	rs_786204873	3 SubmittersRCV000169813 RCV001384751 RCV003454433
NM_000314.8(PTEN):c.802-2A>G	SNV Germline	Chr10:87960892	Pathogenic	Hereditary cancer-predisposing syndrome Cowden syndrome 1 PTEN hamartoma tumor syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA000590	rs_587782455	6 SubmittersRCV000491383 RCV000515982 RCV000470021 RCV003884371
NM_000314.8(PTEN):c.919G>T (p.Glu307Ter)	SNV Germline	Chr10:87961011	Pathogenic	Condition: not provided Cowden syndrome 1 PTEN-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA000633	rs_746930141	3 SubmittersRCV000169816 RCV003454434 RCV004535155
NM_000314.8(PTEN):c.1026+1G>C	SNV Germline/somatic	Chr10:87961119	Pathogenic	Cowden syndrome 1 Hereditary cancer-predisposing syndrome Condition: not provided PTEN hamartoma tumor syndrome	Criteria Provided Multiple Submitters No Conflicts	CA000253	rs_786201041	4 SubmittersRCV000515893 RCV000570522 RCV001578271 RCV002516536
NM_006363.6(SEC23B):c.773A>G (p.Gln258Arg)	SNV Germline	Chr20:18525871	Conflicting classifications of pathogenicity	Condition: not provided Congenital dyserythropoietic anemia, type II Cowden syndrome 7 Congenital dyserythropoietic anemia, type II SEC23B-related disorder	Criteria Provided Conflicting Classifications	CA247249	rs_534770840	4 SubmittersRCV000179916 RCV000329540 RCV001509924 RCV004553017
NM_000314.8(PTEN):c.71A>G (p.Asp24Gly)	SNV Germline	Chr10:87864540	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome PTEN hamartoma tumor syndrome Condition: not provided Cowden syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA204760	rs_797044910	6 SubmittersRCV000190739 RCV000234212 RCV001268658 RCV003454489
NM_000314.8(PTEN):c.860C>G (p.Ser287Ter)	SNV Germline	Chr10:87960952	Pathogenic/Likely pathogenic	Cowden syndrome 1 Bannayan-Riley-Ruvalcaba syndrome Macrocephaly-autism syndrome 7 conditions Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA279050	rs_863224909	3 SubmittersRCV000200784 RCV000763222 RCV004020478
NM_006218.4(PIK3CA):c.311C>T (p.Pro104Leu)	SNV Germline/somatic	Chr3:179199136	Pathogenic/Likely pathogenic	PIK3CA related overgrowth syndrome Cowden syndrome Condition: not provided PIK3CA-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA279138	rs_863225060	4 SubmittersRCV000201238 RCV001221647 RCV002254285 RCV004737318
NM_006218.4(PIK3CA):c.3129G>T (p.Met1043Ile)	SNV Germline/somatic	Chr3:179234286	Pathogenic	Cowden syndrome PIK3CA related overgrowth syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA210107	rs_121913283	4 SubmittersRCV000631214 RCV000201236 RCV003320599
NM_006218.4(PIK3CA):c.1635G>T (p.Glu545Asp)	SNV Germline/somatic	Chr3:179218305	Pathogenic/Likely pathogenic	PIK3CA related overgrowth syndrome Megalencephaly-capillary malformation-polymicrogyria syndrome Cowden syndrome Capillary malformation	Criteria Provided Multiple Submitters No Conflicts	CA210104	rs_121913275	5 SubmittersRCV000201234 RCV001775099 RCV002517302 RCV003485561
NM_003002.4(SDHD):c.118A>C (p.Ile40Leu)	SNV Germline	Chr11:112087922	Conflicting classifications of pathogenicity	Paragangliomas 1 Hereditary cancer-predisposing syndrome Hereditary pheochromocytoma-paraganglioma Pheochromocytoma Carney-Stratakis syndrome Paragangliomas with sensorineural hearing loss Cowden syndrome 3 Condition: not provided	Criteria Provided Conflicting Classifications	CA277884	rs_146276662	6 SubmittersRCV000202919 RCV000575031 RCV001105197 RCV003103746 RCV004998421
NM_001382430.1(AKT1):c.1394G>A (p.Arg465His)	SNV Germline	Chr14:104770390	Conflicting classifications of pathogenicity	Cowden syndrome 6 Condition: not provided	Criteria Provided Conflicting Classifications	CA349773	rs_113547523	3 SubmittersRCV000205643 RCV003237770
NM_000314.8(PTEN):c.118G>T (p.Glu40Ter)	SNV Germline	Chr10:87894063	Pathogenic	Cowden syndrome Cowden syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA357808	rs_869312778	2 SubmittersRCV000210162 RCV003454556
NM_000314.8(PTEN):c.408T>G (p.Cys136Trp)	SNV Germline	Chr10:87933167	Conflicting classifications of pathogenicity	Cowden syndrome PTEN hamartoma tumor syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA357779	rs_869312776	4 SubmittersRCV000210082 RCV001853360 RCV003165516 RCV003228913
NM_000314.8(PTEN):c.486C>G (p.Asp162Glu)	SNV Germline	Chr10:87933245	Likely pathogenic	Cowden syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA357794	rs_869312777	2 SubmittersRCV000210132 RCV002253291
NM_000314.8(PTEN):c.635-1G>C	SNV Germline/somatic	Chr10:87957852	Pathogenic/Likely pathogenic	Condition: not provided Cowden syndrome 1 PTEN hamartoma tumor syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA10577419	rs_876661024	8 SubmittersRCV000221132 RCV000515885 RCV000645031 RCV001182324
NM_000314.8(PTEN):c.945T>A (p.Tyr315Ter)	SNV Germline	Chr10:87961037	Pathogenic	Condition: not provided Cowden syndrome 1 PTEN hamartoma tumor syndrome	Criteria Provided Multiple Submitters No Conflicts	CA10577421	rs_876661058	3 SubmittersRCV000222109 RCV003454667 RCV003509517
NM_000314.8(PTEN):c.1069C>A (p.Pro357Thr)	SNV Germline	Chr10:87965329	Conflicting classifications of pathogenicity	Condition: not provided PTEN hamartoma tumor syndrome Cowden syndrome 1 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA10577425	rs_876661264	8 SubmittersRCV000221425 RCV000231001 RCV000663026 RCV000573110
NM_000314.8(PTEN):c.103A>G (p.Met35Val)	SNV Germline	Chr10:87894048	Pathogenic	Condition: not provided PTEN hamartoma tumor syndrome Hereditary cancer-predisposing syndrome Familial meningioma Cowden syndrome 1	Reviewed By Expert Panel	CA10578906	rs_876659443	11 SubmittersRCV000479090 RCV000548863 RCV000771914 RCV001198718 RCV002272180
NM_000314.8(PTEN):c.144C>G (p.Asn48Lys)	SNV Germline	Chr10:87894089	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Cowden syndrome 1 PTEN hamartoma tumor syndrome	Criteria Provided Multiple Submitters No Conflicts	CA10578908	rs_762518389	3 SubmittersRCV000213950 RCV003454636 RCV003619663
NM_000314.8(PTEN):c.203A>G (p.Tyr68Cys)	SNV Germline	Chr10:87925551	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome PTEN hamartoma tumor syndrome 8 conditions Cowden syndrome 1 Condition: not provided See cases	Criteria Provided Multiple Submitters No Conflicts	CA10578910	rs_876660634	7 SubmittersRCV000215167 RCV000690989 RCV000735377 RCV001332358 RCV001551732 RCV003156087
NM_000314.8(PTEN):c.371G>A (p.Cys124Tyr)	SNV Germline	Chr10:87933130	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome PTEN hamartoma tumor syndrome Cowden syndrome 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA10578914	rs_876660535	6 SubmittersRCV000220547 RCV000471590 RCV002470824 RCV003223628
NM_003002.4(SDHD):c.320T>G (p.Leu107Arg)	SNV Germline	Chr11:112094810	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Pheochromocytoma Pheochromocytoma Paragangliomas with sensorineural hearing loss Cowden syndrome 3 Carney-Stratakis syndrome Hereditary pheochromocytoma-paraganglioma Mitochondrial complex 2 deficiency, nuclear type 3	Criteria Provided Conflicting Classifications	CA10579346	rs_876658477	7 SubmittersRCV000219575 RCV000986022 RCV001294091 RCV002229212 RCV002282052 RCV003475006
NM_000314.8(PTEN):c.195C>G (p.Tyr65Ter)	SNV Germline	Chr10:87925543	Pathogenic	PTEN hamartoma tumor syndrome Hereditary cancer-predisposing syndrome Cowden syndrome 1	Reviewed By Expert Panel	CA10582757	rs_878853936	4 SubmittersRCV000226814 RCV003165600 RCV003454703
NM_000314.8(PTEN):c.209+2T>A	SNV Germline	Chr10:87925559	Pathogenic	PTEN hamartoma tumor syndrome Cowden syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA10582758	rs_878853937	2 SubmittersRCV000229236 RCV002283471
NM_000314.8(PTEN):c.877G>T (p.Gly293Ter)	SNV Germline	Chr10:87960969	Pathogenic	PTEN hamartoma tumor syndrome Cowden syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA10582766	rs_878853944	2 SubmittersRCV000234288 RCV003454704
NM_003002.4(SDHD):c.361C>T (p.Gln121Ter)	SNV Germline	Chr11:112094851	Pathogenic/Likely pathogenic	Carney-Stratakis syndrome Cowden syndrome 3 Pheochromocytoma Paragangliomas with sensorineural hearing loss Pheochromocytoma	Criteria Provided Multiple Submitters No Conflicts	CA10582872	rs_878854594	2 SubmittersRCV002229350 RCV002288922
NM_006218.4(PIK3CA):c.2985C>T (p.Ala995=)	SNV Germline	Chr3:179234142	Conflicting classifications of pathogenicity	Condition: not provided Cowden syndrome Cowden syndrome 5	Criteria Provided Conflicting Classifications	CA2711051	rs_201884756	5 SubmittersRCV000597490 RCV001084863 RCV003316317
NM_005228.5(EGFR):c.977G>T (p.Cys326Phe)	SNV Germline	Chr7:55155917	Pathogenic	Cowden syndrome 1	No Assertion Criteria Provided	CA10586342	rs_886037891	1 SubmittersRCV000256393
NM_006218.4(PIK3CA):c.323G>A (p.Arg108His)	SNV Germline	Chr3:179199148	Pathogenic/Likely pathogenic	Condition: not provided Megalencephaly-capillary malformation-polymicrogyria syndrome Cowden syndrome See cases not specified	Criteria Provided Multiple Submitters No Conflicts	CA10602871	rs_886042002	6 SubmittersRCV000404833 RCV001353357 RCV001859541 RCV002287404 RCV001195259
NM_000314.8(PTEN):c.80A>C (p.Tyr27Ser)	SNV Germline	Chr10:87894025	Likely pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome PTEN hamartoma tumor syndrome Cowden syndrome 1	Reviewed By Expert Panel	CA10603162	rs_886041877	5 SubmittersRCV000355517 RCV002418104 RCV001855073 RCV003454785
NM_000314.8(PTEN):c.634+5G>A	SNV Germline	Chr10:87952264	Pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided PTEN hamartoma tumor syndrome Intellectual disability Malignant tumor of prostate Macrocephaly-autism syndrome Familial meningioma Glioma susceptibility 2 Cowden syndrome 1	Reviewed By Expert Panel	CA10603167	rs_138336847	6 SubmittersRCV000491116 RCV000285177 RCV000703228 RCV001526576 RCV002479995
NM_006363.6(SEC23B):c.519G>A (p.Val173=)	SNV Germline	Chr20:18524585	Conflicting classifications of pathogenicity	Condition: not provided Congenital dyserythropoietic anemia, type II Cowden syndrome 7 Congenital dyserythropoietic anemia, type II SEC23B-related disorder	Criteria Provided Conflicting Classifications	CA9778047	rs_138314893	6 SubmittersRCV000395336 RCV001079079 RCV001141444 RCV004547716
NM_003002.4(SDHD):c.53C>T (p.Ala18Val)	SNV Germline	Chr11:112087857	Conflicting classifications of pathogenicity	Hereditary pheochromocytoma-paraganglioma Hereditary cancer-predisposing syndrome Condition: not provided Paragangliomas with sensorineural hearing loss Cowden syndrome 3 Carney-Stratakis syndrome Pheochromocytoma Paragangliomas 1 Mitochondrial complex 2 deficiency, nuclear type 3 SDHD-related disorder	Criteria Provided Conflicting Classifications	CA071521	rs_192332761	15 SubmittersRCV000344579 RCV000571997 RCV000506525 RCV002229954 RCV002288968 RCV003475929 RCV004748715
NM_006363.6(SEC23B):c.1299G>A (p.Pro433=)	SNV Germline	Chr20:18532729	Conflicting classifications of pathogenicity	Congenital dyserythropoietic anemia, type II Congenital dyserythropoietic anemia, type II Cowden syndrome 7	Criteria Provided Conflicting Classifications	CA9778303	rs_767683935	2 SubmittersRCV000372385 RCV002520000
NM_006363.6(SEC23B):c.1335G>A (p.Thr445=)	SNV Germline	Chr20:18535673	Conflicting classifications of pathogenicity	Congenital dyserythropoietic anemia, type II Congenital dyserythropoietic anemia, type II Cowden syndrome 7 Condition: not provided	Criteria Provided Conflicting Classifications	CA9778321	rs_146587686	3 SubmittersRCV000282343 RCV000890287 RCV001532448
NM_006363.6(SEC23B):c.1512T>C (p.Asn504=)	SNV Germline	Chr20:18543019	Conflicting classifications of pathogenicity	not specified Congenital dyserythropoietic anemia, type II Cowden syndrome 7 Congenital dyserythropoietic anemia, type II Condition: not provided	Criteria Provided Conflicting Classifications	CA9778401	rs_138198461	9 SubmittersRCV000736084 RCV000878440 RCV000990293 RCV001509053
NM_006363.6(SEC23B):c.1809A>G (p.Ser603=)	SNV Germline	Chr20:18548674	Conflicting classifications of pathogenicity	Congenital dyserythropoietic anemia, type II Congenital dyserythropoietic anemia, type II Cowden syndrome 7 Condition: not provided	Criteria Provided Conflicting Classifications	CA9778503	rs_139882548	3 SubmittersRCV000308177 RCV000878323 RCV003430857
NM_006363.6(SEC23B):c.85C>T (p.Leu29=)	SNV Germline	Chr20:18510920	Conflicting classifications of pathogenicity	Congenital dyserythropoietic anemia, type II Congenital dyserythropoietic anemia, type II Cowden syndrome 7	Criteria Provided Conflicting Classifications	CA10652967	rs_886056525	2 SubmittersRCV000302624 RCV003765965
NM_006363.6(SEC23B):c.1198T>C (p.Phe400Leu)	SNV Germline	Chr20:18530768	Conflicting classifications of pathogenicity	Congenital dyserythropoietic anemia, type II Congenital dyserythropoietic anemia, type II Cowden syndrome 7 Condition: not provided SEC23B-related disorder	Criteria Provided Conflicting Classifications	CA9778252	rs_142461689	6 SubmittersRCV000275527 RCV000945938 RCV001509049 RCV004549773
NM_000314.8(PTEN):c.801+8C>G	SNV Germline	Chr10:87958027	Conflicting classifications of pathogenicity	Cowden syndrome 1 PTEN hamartoma tumor syndrome Hereditary cancer-predisposing syndrome not specified	Criteria Provided Conflicting Classifications	CA16042124	rs_1057517630	5 SubmittersRCV000410432 RCV000464000 RCV000775839 RCV001193511
NM_000314.8(PTEN):c.1027-1G>A	SNV Germline/somatic	Chr10:87965286	Pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome PTEN hamartoma tumor syndrome Ovarian neoplasm Cowden syndrome 1	Reviewed By Expert Panel	CA16042723	rs_1057517809	6 SubmittersRCV000414617 RCV000491449 RCV000690306 RCV000785587 RCV003449035
NM_000314.8(PTEN):c.320A>T (p.Asp107Val)	SNV Germline	Chr10:87933079	Pathogenic	Condition: not provided PTEN hamartoma tumor syndrome Macrocephaly-autism syndrome Cowden syndrome 1	Reviewed By Expert Panel	CA16042748	rs_786204858	6 SubmittersRCV000413179 RCV000490579 RCV003137990 RCV003449034
NM_001382430.1(AKT1):c.236A>G (p.Gln79Arg)	SNV Germline	Chr14:104776710	Conflicting classifications of pathogenicity	Condition: not provided Cowden syndrome 6	Criteria Provided Conflicting Classifications	CA16042842	rs_1057518602	2 SubmittersRCV000413604 RCV001851003
NM_006218.4(PIK3CA):c.1059+12T>A	SNV Germline	Chr3:179203801	Conflicting classifications of pathogenicity	Facial asymmetry Overgrowth Hemimegalencephaly Cowden syndrome	Criteria Provided Conflicting Classifications	CA2710624	rs_200627037	2 SubmittersRCV000415184 RCV002524666
NM_000314.8(PTEN):c.388C>G (p.Arg130Gly)	SNV Germline/somatic	Chr10:87933147	Pathogenic	PTEN hamartoma tumor syndrome Endometrial carcinoma Condition: not provided Cowden syndrome 1 Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA16602437	rs_121909224	7 SubmittersRCV000790885 RCV000677621 RCV001796030 RCV001808792 RCV004659022
NM_000314.8(PTEN):c.518G>A (p.Arg173His)	SNV Germline/somatic	Chr10:87952143	Pathogenic/Likely pathogenic	PTEN hamartoma tumor syndrome Condition: not provided Cowden syndrome 1 Hereditary cancer-predisposing syndrome Neoplasm	Criteria Provided Multiple Submitters No Conflicts	CA060209	rs_121913294	14 SubmittersRCV000490595 RCV000484180 RCV002289517 RCV002338980 RCV004668926
NM_006218.4(PIK3CA):c.263G>A (p.Arg88Gln)	SNV Germline/somatic	Chr3:179199088	Pathogenic	Ovarian neoplasm Cowden syndrome Condition: not provided Neoplasm PIK3CA related overgrowth syndrome Abnormal cerebral morphology CLOVES syndrome Megalencephaly-capillary malformation-polymicrogyria syndrome Cowden syndrome 5	Criteria Provided Multiple Submitters No Conflicts	CA16602516	rs_121913287	10 SubmittersRCV000785354 RCV001224952 RCV001562650 RCV004668930 RCV002274026 RCV002275002 RCV004767253 RCV003225067 RCV003995942
NM_006218.4(PIK3CA):c.3062A>G (p.Tyr1021Cys)	SNV Germline/somatic	Chr3:179234219	Pathogenic	Cowden syndrome Abnormal cardiovascular system morphology	Criteria Provided Single Submitter	CA16602699	rs_121913288	2 SubmittersRCV001851016 RCV001327967
NM_006218.4(PIK3CA):c.1357G>A (p.Glu453Lys)	SNV Germline/somatic	Chr3:179210291	Pathogenic	Ovarian neoplasm Megalencephaly-capillary malformation-polymicrogyria syndrome CLOVES syndrome PIK3CA related overgrowth syndrome Abnormal cardiovascular system morphology Condition: not provided PIK3CA-related disorder Cowden syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16602904	rs_1057519925	11 SubmittersRCV000785580 RCV000991209 RCV001526693 RCV002472374 RCV001327961 RCV001775789 RCV002244865 RCV001861479
NM_006218.4(PIK3CA):c.2176G>A (p.Glu726Lys)	SNV Germline/somatic	Chr3:179221146	Pathogenic	Condition: not provided Inborn genetic diseases Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes Cowden syndrome Megalencephaly-capillary malformation-polymicrogyria syndrome PIK3CA related overgrowth syndrome	Reviewed By Expert Panel	CA16602910	rs_867262025	10 SubmittersRCV000484330 RCV000624735 RCV001836817 RCV001851018 RCV003152707 RCV003233633
NM_006218.4(PIK3CA):c.241G>A (p.Glu81Lys)	SNV Germline/somatic	Chr3:179199066	Pathogenic	CLOVES syndrome Condition: not provided Megalencephaly-capillary malformation-polymicrogyria syndrome Abnormal cardiovascular system morphology PIK3CA related overgrowth syndrome Cowden syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16602912	rs_1057519929	7 SubmittersRCV001526599 RCV001837893 RCV001542570 RCV001327958 RCV003458199 RCV002524695
NM_006218.4(PIK3CA):c.317G>T (p.Gly106Val)	SNV Germline/somatic	Chr3:179199142	Conflicting classifications of pathogenicity	Cowden syndrome CLOVES syndrome PIK3CA related overgrowth syndrome	Criteria Provided Conflicting Classifications	CA16602913	rs_1057519930	3 SubmittersRCV000631208 RCV001526649 RCV004719813
NM_006218.4(PIK3CA):c.331A>G (p.Lys111Glu)	SNV Unknown	Chr3:179199156	Pathogenic	Cowden syndrome 5	Criteria Provided Single Submitter	CA16602916	rs_1057519933	1 SubmittersRCV003147452
NM_006218.4(PIK3CA):c.1030G>A (p.Val344Met)	SNV Germline	Chr3:179203760	Pathogenic	Condition: not provided Cowden syndrome Cowden syndrome 5 Megalencephaly, autosomal dominant Diaphragmatic eventration Abnormality of the hairline Hypertelorism Intestinal duplication PIK3CA related overgrowth syndrome Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA16602930	rs_1057519942	9 SubmittersRCV000485942 RCV000631216 RCV000767535 RCV000852337 RCV003985084 RCV004955473
NM_000314.8(PTEN):c.389G>T (p.Arg130Leu)	SNV Germline	Chr10:87933148	Pathogenic/Likely pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome PTEN hamartoma tumor syndrome Cowden syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA16602940	rs_121909229	9 SubmittersRCV000482735 RCV000490825 RCV001851019 RCV003152708
NM_000314.8(PTEN):c.210-9T>C	SNV Germline	Chr10:87931037	Conflicting classifications of pathogenicity	not specified PTEN hamartoma tumor syndrome Hereditary cancer-predisposing syndrome Cowden syndrome 1 Condition: not provided Breast and/or ovarian cancer	Criteria Provided Conflicting Classifications	CA059529	rs_751744545	13 SubmittersRCV000439463 RCV000461856 RCV000582603 RCV000663242 RCV001729584 RCV001798800
NM_000314.8(PTEN):c.254-6C>T	SNV Germline	Chr10:87933007	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome PTEN hamartoma tumor syndrome Cowden syndrome 1	Criteria Provided Conflicting Classifications	CA16605979	rs_1057520525	4 SubmittersRCV000427194 RCV000580562 RCV000921932 RCV002470856
NM_000314.8(PTEN):c.164+1G>T	SNV Germline	Chr10:87894110	Pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Cowden syndrome 1 PTEN hamartoma tumor syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16606092	rs_1554893835	4 SubmittersRCV000433720 RCV000491416 RCV003449057 RCV002521586
NM_000314.8(PTEN):c.430A>T (p.Lys144Ter)	SNV Germline	Chr10:87933189	Pathogenic/Likely pathogenic	Condition: not provided PTEN hamartoma tumor syndrome Cowden syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16606102	rs_1057520622	3 SubmittersRCV000435296 RCV001058791 RCV001194183
NM_003000.3(SDHB):c.440A>G (p.Tyr147Cys)	SNV Germline	Chr1:17027849	Conflicting classifications of pathogenicity	Gastrointestinal stromal tumor Pheochromocytoma Paragangliomas 4 Hereditary cancer-predisposing syndrome Cowden syndrome Pheochromocytoma Condition: not provided not specified Hereditary pheochromocytoma-paraganglioma Gastrointestinal stromal tumor	Criteria Provided Conflicting Classifications	CA089628	rs_774568101	7 SubmittersRCV000469133 RCV000492611 RCV000708786 RCV001294088 RCV001755709 RCV002282162 RCV004001997 RCV004568126
NM_000314.8(PTEN):c.445C>T (p.Gln149Ter)	SNV Germline	Chr10:87933204	Pathogenic	PTEN hamartoma tumor syndrome Hereditary cancer-predisposing syndrome Condition: not provided Cowden syndrome 1 Glioma	Criteria Provided Multiple Submitters No Conflicts	CA16612898	rs_1060500122	5 SubmittersRCV000458930 RCV000575083 RCV001539518 RCV003449112 RCV004798834
NM_000314.8(PTEN):c.235G>T (p.Ala79Ser)	SNV Germline	Chr10:87931071	Conflicting classifications of pathogenicity	PTEN hamartoma tumor syndrome Cowden syndrome 1 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA16613003	rs_202004587	8 SubmittersRCV000459127 RCV000662964 RCV000775802
NM_000314.8(PTEN):c.176C>G (p.Ser59Ter)	SNV Germline	Chr10:87925524	Pathogenic	PTEN hamartoma tumor syndrome Hereditary cancer-predisposing syndrome Cowden syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA16613155	rs_1060500116	3 SubmittersRCV000473713 RCV002402229 RCV003449109
NM_000314.8(PTEN):c.675T>G (p.Tyr225Ter)	SNV Germline	Chr10:87957893	Pathogenic	PTEN hamartoma tumor syndrome Condition: not provided Hemangioma Cowden syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA16613166	rs_1057520900	4 SubmittersRCV000457859 RCV000484536 RCV000678739 RCV003449111
NM_003002.4(SDHD):c.315G>A (p.Trp105Ter)	SNV Germline	Chr11:112094805	Pathogenic	Paragangliomas with sensorineural hearing loss Pheochromocytoma Carney-Stratakis syndrome Cowden syndrome 3 Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16613226	rs_1060503769	2 SubmittersRCV002230838 RCV002323759
NM_000314.8(PTEN):c.80A>G (p.Tyr27Cys)	SNV Germline	Chr10:87894025	Likely pathogenic	PTEN hamartoma tumor syndrome Hereditary cancer-predisposing syndrome Cowden syndrome 1	Reviewed By Expert Panel	CA16613238	rs_886041877	4 SubmittersRCV000471888 RCV001027175 RCV003449110
NM_000314.8(PTEN):c.464A>G (p.Tyr155Cys)	SNV Germline	Chr10:87933223	Pathogenic	PTEN hamartoma tumor syndrome Cowden syndrome 1 Hereditary cancer-predisposing syndrome Condition: not provided PTEN hamartoma tumor syndromes Macrocephaly-autism syndrome Cowden syndrome 1 Gastric cancer Glioma susceptibility 2 Papillary tumor of the pineal region	Reviewed By Expert Panel	CA16613246	rs_1060500126	17 SubmittersRCV000475421 RCV000656112 RCV001022838 RCV001092596 RCV001258059 RCV003326136 RCV003168731 RCV003470396 RCV003492047
NM_003002.4(SDHD):c.270G>C (p.Ala90=)	SNV Germline	Chr11:112088967	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Paragangliomas with sensorineural hearing loss Cowden syndrome 3 Carney-Stratakis syndrome Pheochromocytoma Hereditary pheochromocytoma-paraganglioma	Criteria Provided Conflicting Classifications	CA070986	rs_766656463	3 SubmittersRCV002431384 RCV002231076 RCV004002233
NM_003002.4(SDHD):c.325C>T (p.Gln109Ter)	SNV Germline	Chr11:112094815	Pathogenic	Hereditary cancer-predisposing syndrome Paragangliomas with sensorineural hearing loss Pheochromocytoma Carney-Stratakis syndrome Cowden syndrome 3	Criteria Provided Multiple Submitters No Conflicts	CA16613252	rs_1060503770	2 SubmittersRCV000492697 RCV002230658
NM_003002.4(SDHD):c.331G>A (p.Val111Ile)	SNV Germline	Chr11:112094821	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Paragangliomas with sensorineural hearing loss Pheochromocytoma Carney-Stratakis syndrome Cowden syndrome 3 Paragangliomas 1 Mitochondrial complex 2 deficiency, nuclear type 3	Criteria Provided Conflicting Classifications	CA071246	rs_201869798	5 SubmittersRCV000565076 RCV001591105 RCV002230665 RCV003325203 RCV003476144
NM_003002.4(SDHD):c.269C>A (p.Ala90Glu)	SNV Germline	Chr11:112088966	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly Paragangliomas with sensorineural hearing loss Pheochromocytoma Carney-Stratakis syndrome Cowden syndrome 3 Condition: not provided	Criteria Provided Conflicting Classifications	CA070965	rs_200255724	4 SubmittersRCV001016345 RCV001252746 RCV002230664 RCV003235231
NM_003002.4(SDHD):c.269C>T (p.Ala90Val)	SNV Germline	Chr11:112088966	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided not specified Paragangliomas with sensorineural hearing loss Cowden syndrome 3 Carney-Stratakis syndrome Pheochromocytoma	Criteria Provided Conflicting Classifications	CA070974	rs_200255724	5 SubmittersRCV000562410 RCV001584171 RCV001821298 RCV002230663
NM_003002.4(SDHD):c.255G>C (p.Leu85Phe)	SNV Germline	Chr11:112088952	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome not specified Paragangliomas with sensorineural hearing loss Cowden syndrome 3 Carney-Stratakis syndrome Pheochromocytoma Paragangliomas 1 Mitochondrial complex 2 deficiency, nuclear type 3 Hereditary pheochromocytoma-paraganglioma	Criteria Provided Conflicting Classifications	CA070935	rs_199517389	9 SubmittersRCV000508222 RCV000562051 RCV001328335 RCV002230195 RCV003153649 RCV003476141 RCV004002008
NM_006218.4(PIK3CA):c.1093G>A (p.Glu365Lys)	SNV Germline/somatic	Chr3:179204536	Pathogenic	Condition: not provided Cowden syndrome Ovarian neoplasm Megalencephaly-capillary malformation-polymicrogyria syndrome Angioosteohypertrophic syndrome PIK3CA-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA16617848	rs_1064793732	7 SubmittersRCV000484163 RCV000798360 RCV000785369 RCV001526558 RCV002254298 RCV004535503
NM_006218.4(PIK3CA):c.3131A>G (p.Asn1044Ser)	SNV Germline	Chr3:179234288	Pathogenic	Condition: not provided Cowden syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16617853	rs_1064793838	3 SubmittersRCV000479562 RCV001856831
NM_000314.8(PTEN):c.209+1G>A	SNV Germline	Chr10:87925558	Pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Familial meningioma PTEN hamartoma tumor syndrome Malignant tumor of prostate Macrocephaly-autism syndrome Cowden syndrome 1 Familial meningioma Glioma susceptibility 2	Criteria Provided Multiple Submitters No Conflicts	CA16619047	rs_1554897280	5 SubmittersRCV000482154 RCV000491897 RCV001197835 RCV001219616 RCV002489144
NM_000314.8(PTEN):c.323T>C (p.Leu108Pro)	SNV Germline	Chr10:87933082	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome PTEN hamartoma tumor syndrome Condition: not provided Cowden syndrome 1 Malignant tumor of breast	Criteria Provided Multiple Submitters No Conflicts	CA16619052	rs_1064793243	6 SubmittersRCV000490832 RCV000688225 RCV000479867 RCV003449170 RCV001357264
NM_000314.8(PTEN):c.922C>T (p.Arg308Cys)	SNV Germline	Chr10:87961014	Conflicting classifications of pathogenicity	Condition: not provided PTEN hamartoma tumor syndrome Hereditary cancer-predisposing syndrome not specified Macrocephaly-autism syndrome Malignant tumor of prostate Familial meningioma Glioma susceptibility 2 Cowden syndrome 1 PTEN-related disorder	Criteria Provided Conflicting Classifications	CA16619066	rs_1064794436	11 SubmittersRCV000480358 RCV000526594 RCV000561633 RCV002268122 RCV002475934 RCV004735560
NM_000314.8(PTEN):c.947T>C (p.Leu316Pro)	SNV Germline	Chr10:87961039	Likely pathogenic	Condition: not provided Macrocephaly-autism syndrome Cowden syndrome 1 PTEN hamartoma tumor syndrome	Reviewed By Expert Panel	CA16619068	rs_1064793345	3 SubmittersRCV000480591 RCV000678387 RCV001078166
NM_003002.4(SDHD):c.1A>T (p.Met1Leu)	SNV Germline	Chr11:112086908	Pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Cowden syndrome 3 Carney-Stratakis syndrome Paragangliomas with sensorineural hearing loss Pheochromocytoma	Criteria Provided Multiple Submitters No Conflicts	CA070834	rs_104894307	3 SubmittersRCV000485004 RCV000492287 RCV002526633
NM_003002.4(SDHD):c.275A>T (p.Asp92Val)	SNV Germline	Chr11:112088972	Likely pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Paragangliomas with sensorineural hearing loss Cowden syndrome 3 Carney-Stratakis syndrome Pheochromocytoma	Criteria Provided Multiple Submitters No Conflicts	CA16619272	rs_786205436	3 SubmittersRCV000479419 RCV000569878 RCV002525847
NM_000314.8(PTEN):c.131G>A (p.Gly44Asp)	SNV Germline	Chr10:87894076	Pathogenic	PTEN hamartoma tumor syndrome Condition: not provided Cowden syndrome	Criteria Provided Multiple Submitters No Conflicts	CA377784538	rs_1085308042	3 SubmittersRCV000490575 RCV001092593 RCV003492073
NM_000314.8(PTEN):c.165-2A>G	SNV Germline	Chr10:87925511	Pathogenic	PTEN hamartoma tumor syndrome Cowden syndrome 1 Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA377784973	rs_1085308043	5 SubmittersRCV000490612 RCV000516092 RCV000657856 RCV001012591
NM_000314.8(PTEN):c.253+1G>C	SNV Germline	Chr10:87931090	Pathogenic	PTEN hamartoma tumor syndrome Hereditary cancer-predisposing syndrome Cowden syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA377481417	rs_587776667	3 SubmittersRCV000490594 RCV000491885 RCV003316641
NM_000314.8(PTEN):c.401T>C (p.Met134Thr)	SNV Germline	Chr10:87933160	Pathogenic/Likely pathogenic	PTEN hamartoma tumor syndrome Hereditary cancer-predisposing syndrome Cowden syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA377482338	rs_1085308046	4 SubmittersRCV000490616 RCV001021679 RCV003449265
NM_000314.8(PTEN):c.635-3C>G	SNV Germline/somatic	Chr10:87957850	Likely pathogenic	PTEN hamartoma tumor syndrome Hereditary cancer-predisposing syndrome Condition: not provided Cowden syndrome 1	Reviewed By Expert Panel	CA645294060	rs_1085308056	7 SubmittersRCV000490589 RCV000491647 RCV000853544 RCV004591433
NM_000314.8(PTEN):c.635-1G>A	SNV Germline	Chr10:87957852	Pathogenic/Likely pathogenic	PTEN hamartoma tumor syndrome Cowden syndrome 1 Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA377484748	rs_876661024	5 SubmittersRCV000490578 RCV003449267 RCV001591129 RCV004659069
NM_000314.8(PTEN):c.667A>T (p.Lys223Ter)	SNV Germline	Chr10:87957885	Pathogenic	PTEN hamartoma tumor syndrome Condition: not provided Cowden syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA377484818	rs_1085308049	4 SubmittersRCV000490615 RCV003238763 RCV003449266
NM_000314.8(PTEN):c.1027-2A>G	SNV Germline	Chr10:87965285	Pathogenic/Likely pathogenic	PTEN hamartoma tumor syndrome Hereditary cancer-predisposing syndrome Condition: not provided Cowden syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA377487088	rs_1085308041	8 SubmittersRCV000490606 RCV000491514 RCV000522568 RCV003449264
NM_000314.8(PTEN):c.165-1G>C	SNV Germline	Chr10:87925512	Pathogenic	Cowden syndrome 1 Hereditary cancer-predisposing syndrome PTEN hamartoma tumor syndrome Condition: not provided Cowden syndrome	Reviewed By Expert Panel	CA377784976	rs_786203847	7 SubmittersRCV000516009 RCV001525989 RCV001172259 RCV003311827 RCV003492075
NM_000314.8(PTEN):c.209+5G>A	SNV Germline	Chr10:87925562	Pathogenic	Hereditary cancer-predisposing syndrome Cowden syndrome 1 PTEN hamartoma tumor syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA645369431	rs_1114167650	5 SubmittersRCV000491938 RCV000516142 RCV001050316 RCV001358192
NM_000314.8(PTEN):c.210-1G>A	SNV Germline/somatic	Chr10:87931045	Pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Cowden syndrome 1 PTEN hamartoma tumor syndrome	Criteria Provided Multiple Submitters No Conflicts	CA377481229	rs_1114167621	7 SubmittersRCV000507780 RCV000491234 RCV000515846 RCV000645050
NM_000314.8(PTEN):c.253+5G>A	SNV Germline/somatic	Chr10:87931094	Likely pathogenic	Cowden syndrome 1 PTEN hamartoma tumor syndrome Glioma susceptibility 2 Condition: not provided Neoplasm Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA658656081	rs_1554897889	7 SubmittersRCV000515980 RCV000703616 RCV003464040 RCV003321636 RCV004669001 RCV004943927
NM_000314.8(PTEN):c.253+5G>T	SNV Germline	Chr10:87931094	Pathogenic/Likely pathogenic	PTEN hamartoma tumor syndrome Cowden syndrome 1 Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA645553783	rs_1554897889	6 SubmittersRCV000684984 RCV000515839 RCV001800709 RCV004659070
NM_000314.8(PTEN):c.492+1G>T	SNV Germline	Chr10:87933252	Pathogenic	Cowden syndrome 1 PTEN hamartoma tumor syndrome Condition: not provided Familial meningioma Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA377482840	rs_1554898242	8 SubmittersRCV000516072 RCV001172261 RCV003326441 RCV001292844 RCV002350095
NM_000314.8(PTEN):c.634+1G>C	SNV Germline	Chr10:87952260	Pathogenic	Hereditary cancer-predisposing syndrome Cowden syndrome 1 PTEN hamartoma tumor syndrome PTEN-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA377484725	rs_1114167622	4 SubmittersRCV000490911 RCV000515962 RCV001053483 RCV004527598
NM_000314.8(PTEN):c.634+2T>C	SNV Germline	Chr10:87952261	Pathogenic	Cowden syndrome 1 PTEN hamartoma tumor syndrome Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA377484731	rs_727504114	3 SubmittersRCV000516099 RCV001172260 RCV002356807
NM_000314.8(PTEN):c.634+4A>T	SNV Germline	Chr10:87952263	Pathogenic	Cowden syndrome 1	No Assertion Criteria Provided	CA658656106	rs_1554900675	1 SubmittersRCV000515852
NM_000314.8(PTEN):c.634+5G>C	SNV Germline	Chr10:87952264	Pathogenic	not specified Cowden syndrome 1 PTEN hamartoma tumor syndrome Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA645509438	rs_138336847	5 SubmittersRCV000507258 RCV000515997 RCV000790888 RCV002367668
NM_000314.8(PTEN):c.1027-2A>C	SNV Germline	Chr10:87965285	Pathogenic	not specified Cowden syndrome 1 PTEN hamartoma tumor syndrome	Criteria Provided Multiple Submitters No Conflicts	CA377487087	rs_1085308041	4 SubmittersRCV000506504 RCV000516120 RCV001214733
NM_000314.8(PTEN):c.104T>C (p.Met35Thr)	SNV Germline	Chr10:87894049	Likely pathogenic	Hereditary cancer-predisposing syndrome Cowden syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA377784464	rs_121909225	2 SubmittersRCV000491217 RCV003449274
NM_000314.8(PTEN):c.195C>A (p.Tyr65Ter)	SNV Germline	Chr10:87925543	Pathogenic	Hereditary cancer-predisposing syndrome PTEN hamartoma tumor syndrome Cowden syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA377785045	rs_878853936	4 SubmittersRCV000490865 RCV001856938 RCV003449279
NM_000314.8(PTEN):c.210-1G>C	SNV Germline/somatic	Chr10:87931045	Likely pathogenic	Hereditary cancer-predisposing syndrome Cowden syndrome 1 Neoplasm	Criteria Provided Multiple Submitters No Conflicts	CA377481230	rs_1114167621	3 SubmittersRCV000491942 RCV003449277 RCV004669003
NM_000314.8(PTEN):c.328C>T (p.Gln110Ter)	SNV Germline	Chr10:87933087	Pathogenic	Hereditary cancer-predisposing syndrome PTEN hamartoma tumor syndrome Cowden syndrome 1 Glioma susceptibility 2	Criteria Provided Multiple Submitters No Conflicts	CA377482195	rs_1114167629	5 SubmittersRCV000491715 RCV000537933 RCV003338616 RCV003470597
NM_000314.8(PTEN):c.367C>G (p.His123Asp)	SNV Germline	Chr10:87933126	Pathogenic	Hereditary cancer-predisposing syndrome PTEN hamartoma tumor syndrome Cowden syndrome 1	Reviewed By Expert Panel	CA377482278	rs_786204931	4 SubmittersRCV000491887 RCV000693998 RCV001332360
NM_000314.8(PTEN):c.404T>A (p.Ile135Lys)	SNV Germline	Chr10:87933163	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Macrocephaly-autism syndrome Glioma susceptibility 2 Cowden syndrome 1 Familial meningioma Malignant tumor of prostate	Criteria Provided Multiple Submitters No Conflicts	CA377482344	rs_370795352	2 SubmittersRCV000490950 RCV002475968
NM_000314.8(PTEN):c.463T>C (p.Tyr155His)	SNV Germline	Chr10:87933222	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Cowden syndrome 1 Macrocephaly-autism syndrome	Criteria Provided Multiple Submitters No Conflicts	CA377482775	rs_398123325	3 SubmittersRCV000490957 RCV003449273 RCV003447532
NM_000314.8(PTEN):c.493G>A (p.Gly165Arg)	SNV Germline/somatic	Chr10:87952118	Pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided PTEN hamartoma tumor syndrome Cowden syndrome 1 Glioma susceptibility 2 Malignant tumor of urinary bladder	Reviewed By Expert Panel	CA377484223	rs_587782603	7 SubmittersRCV000491530 RCV000522601 RCV000690443 RCV003139692 RCV004568616 RCV003332184
NM_000314.8(PTEN):c.830C>G (p.Thr277Arg)	SNV Germline	Chr10:87960922	Likely pathogenic	Hereditary cancer-predisposing syndrome PTEN hamartoma tumor syndrome Cowden syndrome 1	Reviewed By Expert Panel	CA377485523	rs_398123329	4 SubmittersRCV000491643 RCV000536465 RCV003449278
NM_000314.8(PTEN):c.865A>T (p.Lys289Ter)	SNV Germline	Chr10:87960957	Pathogenic	Hereditary cancer-predisposing syndrome Cowden syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA377485648	rs_562015640	2 SubmittersRCV000491183 RCV001289559
NM_000314.8(PTEN):c.895G>T (p.Glu299Ter)	SNV Germline	Chr10:87960987	Pathogenic	Hereditary cancer-predisposing syndrome Cowden syndrome 1 PTEN hamartoma tumor syndrome	Criteria Provided Multiple Submitters No Conflicts	CA377485762	rs_1114167674	3 SubmittersRCV000491945 RCV003139693 RCV002527059
NM_000314.8(PTEN):c.959T>G (p.Leu320Ter)	SNV Germline	Chr10:87961051	Pathogenic	Hereditary cancer-predisposing syndrome Macrocephaly-autism syndrome PTEN hamartoma tumor syndrome Gastric cancer Cowden syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA377485997	rs_1114167667	5 SubmittersRCV000491324 RCV000995618 RCV001856937 RCV003159592 RCV003449276
NM_000314.8(PTEN):c.1026+2T>G	SNV Germline/somatic	Chr10:87961120	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome PTEN hamartoma tumor syndrome Condition: not provided Cowden syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA377486192	rs_1114167624	4 SubmittersRCV000491037 RCV000802995 RCV001528106 RCV003449272
NM_003002.4(SDHD):c.314G>A (p.Trp105Ter)	SNV Germline	Chr11:112089011	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Mitochondrial complex 2 deficiency, nuclear type 3 Cowden syndrome 3 Carney-Stratakis syndrome Paragangliomas with sensorineural hearing loss Pheochromocytoma Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA382617436	rs_1131691065	4 SubmittersRCV000492092 RCV002291278 RCV002527068 RCV004822076
NM_000314.8(PTEN):c.487A>T (p.Lys163Ter)	SNV Germline	Chr10:87933246	Pathogenic/Likely pathogenic	Condition: not provided Cowden syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA377482826	rs_1554898235	2 SubmittersRCV000497908 RCV003449392
NM_003002.4(SDHD):c.148C>G (p.His50Asp)	SNV Germline	Chr11:112087952	Conflicting classifications of pathogenicity	Condition: not provided Hereditary pheochromocytoma-paraganglioma Hereditary cancer-predisposing syndrome Cowden syndrome 3 Carney-Stratakis syndrome Paragangliomas with sensorineural hearing loss Pheochromocytoma	Criteria Provided Conflicting Classifications	CA382617089	rs_779249550	5 SubmittersRCV000497964 RCV000505346 RCV000569506 RCV002230973
NM_003002.4(SDHD):c.170-1G>T	SNV Germline	Chr11:112088866	Pathogenic	Hereditary pheochromocytoma-paraganglioma Hereditary cancer-predisposing syndrome Carney-Stratakis syndrome Pheochromocytoma Paragangliomas with sensorineural hearing loss Cowden syndrome 3	Criteria Provided Multiple Submitters No Conflicts	CA382617149	rs_1306475361	4 SubmittersRCV000505295 RCV002413385 RCV002524414
NM_003002.4(SDHD):c.239T>G (p.Leu80Arg)	SNV Germline	Chr11:112088936	Pathogenic	Hereditary pheochromocytoma-paraganglioma Carney-Stratakis syndrome Pheochromocytoma Paragangliomas with sensorineural hearing loss Cowden syndrome 3	Criteria Provided Single Submitter	CA382617293	rs_1555187010	2 SubmittersRCV000505381 RCV001857228
NM_003002.4(SDHD):c.314+1G>A	SNV Germline	Chr11:112089012	Pathogenic	Hereditary pheochromocytoma-paraganglioma Hereditary cancer-predisposing syndrome Carney-Stratakis syndrome Pheochromocytoma Paragangliomas with sensorineural hearing loss Cowden syndrome 3	Criteria Provided Multiple Submitters No Conflicts	CA382617441	rs_1555187083	3 SubmittersRCV000505333 RCV001018787 RCV002524415
NM_003002.4(SDHD):c.342T>A (p.Tyr114Ter)	SNV Germline	Chr11:112094832	Pathogenic	Hereditary pheochromocytoma-paraganglioma not specified Hereditary cancer-predisposing syndrome Carney-Stratakis syndrome Pheochromocytoma Paragangliomas with sensorineural hearing loss Cowden syndrome 3	Criteria Provided Multiple Submitters No Conflicts	CA382618852	rs_1050032491	4 SubmittersRCV000505385 RCV001000118 RCV002341190 RCV002524416
NM_000314.8(PTEN):c.635-1G>T	SNV Germline	Chr10:87957852	Pathogenic/Likely pathogenic	not specified PTEN hamartoma tumor syndrome Hereditary cancer-predisposing syndrome Cowden syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA377484747	rs_876661024	4 SubmittersRCV000507343 RCV001067779 RCV002367698 RCV003449453
NM_006218.4(PIK3CA):c.211G>A (p.Val71Ile)	SNV Germline	Chr3:179199036	Conflicting classifications of pathogenicity	Cowden syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2710510	rs_201269904	2 SubmittersRCV000529008 RCV002528307
NM_000314.8(PTEN):c.204C>G (p.Tyr68Ter)	SNV Germline	Chr10:87925552	Pathogenic	PTEN hamartoma tumor syndrome Hereditary cancer-predisposing syndrome Cowden syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA377785065	rs_773176120	3 SubmittersRCV000531588 RCV001014236 RCV003451169
NM_000314.8(PTEN):c.259C>T (p.Gln87Ter)	SNV Germline	Chr10:87933018	Pathogenic/Likely pathogenic	PTEN hamartoma tumor syndrome Hereditary cancer-predisposing syndrome Condition: not provided Cowden syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA377482046	rs_1554898053	4 SubmittersRCV000548017 RCV000568459 RCV003321657 RCV003451170
NM_000314.8(PTEN):c.493-2A>C	SNV Germline	Chr10:87952116	Pathogenic/Likely pathogenic	PTEN hamartoma tumor syndrome Hereditary cancer-predisposing syndrome Cowden syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA377484214	rs_587781784	3 SubmittersRCV000547779 RCV003362841 RCV003451172
NM_003002.4(SDHD):c.228C>T (p.Leu76=)	SNV Germline	Chr11:112088925	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Hereditary pheochromocytoma-paraganglioma Carney-Stratakis syndrome Pheochromocytoma Paragangliomas with sensorineural hearing loss Cowden syndrome 3	Criteria Provided Conflicting Classifications	CA070883	rs_148634289	4 SubmittersRCV000563638 RCV001106324 RCV002231787
NM_000314.8(PTEN):c.625G>T (p.Gly209Ter)	SNV Germline	Chr10:87952250	Pathogenic	PTEN hamartoma tumor syndrome Cowden syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA377484690	rs_765433422	2 SubmittersRCV000543987 RCV003451173
NM_003002.4(SDHD):c.413G>T (p.Gly138Val)	SNV Germline	Chr11:112094903	Conflicting classifications of pathogenicity	Carney-Stratakis syndrome Paragangliomas with sensorineural hearing loss Pheochromocytoma Cowden syndrome 3 Hereditary pheochromocytoma-paraganglioma	Criteria Provided Conflicting Classifications	CA382619290	rs_1401695686	2 SubmittersRCV002526127 RCV003999154
NM_001382430.1(AKT1):c.174G>A (p.Ala58=)	SNV Germline	Chr14:104780089	Conflicting classifications of pathogenicity	Cowden syndrome 6 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7374890	rs_560243859	2 SubmittersRCV000555260 RCV002404539
NM_000314.8(PTEN):c.203A>C (p.Tyr68Ser)	SNV Germline	Chr10:87925551	Likely pathogenic	Hereditary cancer-predisposing syndrome Cowden syndrome 1	Criteria Provided Single Submitter	CA377785062	rs_876660634	2 SubmittersRCV000561145 RCV001028048
NM_000314.8(PTEN):c.319G>T (p.Asp107Tyr)	SNV Germline	Chr10:87933078	Pathogenic	Hereditary cancer-predisposing syndrome PTEN hamartoma tumor syndrome Cowden syndrome 1	Reviewed By Expert Panel	CA377482178	rs_57374291	4 SubmittersRCV000570318 RCV000690305 RCV003451267
NM_000314.8(PTEN):c.333G>A (p.Trp111Ter)	SNV Germline	Chr10:87933092	Pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Cowden syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA377482210	rs_1554898097	3 SubmittersRCV000571971 RCV003225092 RCV003451265
NM_000314.8(PTEN):c.1A>G (p.Met1Val)	SNV Germline	Chr10:87864470	Pathogenic	Hereditary cancer-predisposing syndrome PTEN hamartoma tumor syndrome Condition: not provided Cowden syndrome 1	Reviewed By Expert Panel	CA377781751	rs_1554890324	5 SubmittersRCV000572416 RCV000706088 RCV001562180 RCV003451264
NM_000314.8(PTEN):c.1027-1G>C	SNV Germline	Chr10:87965286	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Cowden syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA377487091	rs_1057517809	2 SubmittersRCV000561292 RCV003451237
NM_000314.8(PTEN):c.107G>A (p.Gly36Glu)	SNV Germline	Chr10:87894052	Pathogenic	Hereditary cancer-predisposing syndrome not specified Condition: not provided PTEN hamartoma tumor syndrome Cowden syndrome 1	Reviewed By Expert Panel	CA377784477	rs_1554893792	5 SubmittersRCV000565926 RCV001251390 RCV001559024 RCV003451292 RCV003451291
NM_000314.8(PTEN):c.1008C>G (p.Tyr336Ter)	SNV Germline	Chr10:87961100	Pathogenic	Hereditary cancer-predisposing syndrome PTEN hamartoma tumor syndrome Cowden syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA377486136	rs_786201816	4 SubmittersRCV000574485 RCV000703842 RCV003451238
NM_003002.4(SDHD):c.314+1G>T	SNV Germline	Chr11:112089012	Pathogenic	Hereditary cancer-predisposing syndrome Pheochromocytoma Paragangliomas with sensorineural hearing loss Cowden syndrome 3 Carney-Stratakis syndrome	Criteria Provided Multiple Submitters No Conflicts	CA382617440	rs_1555187083	2 SubmittersRCV000570334 RCV002231524
NM_003002.4(SDHD):c.314+3A>C	SNV Germline	Chr11:112089014	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Pheochromocytoma Paragangliomas with sensorineural hearing loss Carney-Stratakis syndrome Cowden syndrome 3 Hereditary pheochromocytoma-paraganglioma	Criteria Provided Conflicting Classifications	CA658658106	rs_1555187084	3 SubmittersRCV000566193 RCV002526918 RCV004802240
NM_003002.4(SDHD):c.317G>T (p.Gly106Val)	SNV Germline	Chr11:112094807	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Paragangliomas 1 Pheochromocytoma Paragangliomas with sensorineural hearing loss Cowden syndrome 3 Carney-Stratakis syndrome SDHD-related disorder Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA382618730	rs_1555187574	5 SubmittersRCV000561906 RCV000660262 RCV002232089 RCV003420005 RCV004808786
NM_000314.8(PTEN):c.287C>G (p.Pro96Arg)	SNV Germline	Chr10:87933046	Pathogenic/Likely pathogenic	not specified PTEN hamartoma tumor syndrome Cowden syndrome 1 Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA377482109	rs_1554898074	4 SubmittersRCV000582597 RCV001360366 RCV003451321 RCV004944015
NM_000314.8(PTEN):c.565A>T (p.Arg189Ter)	SNV Germline	Chr10:87952190	Pathogenic	Condition: not provided Cowden syndrome 1 Glioma susceptibility 2 PTEN hamartoma tumor syndrome	Criteria Provided Multiple Submitters No Conflicts	CA377484465	rs_1554900615	4 SubmittersRCV000584402 RCV003451322 RCV003465315 RCV002530820
NM_000314.8(PTEN):c.19G>T (p.Glu7Ter)	SNV Germline	Chr10:87864488	Pathogenic	Condition: not provided Cowden syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA377781832	rs_1554890335	2 SubmittersRCV000585486 RCV003451323
NM_000314.8(PTEN):c.1021T>G (p.Phe341Val)	SNV Germline	Chr10:87961113	Conflicting classifications of pathogenicity	Condition: not provided Cowden syndrome 1	Criteria Provided Conflicting Classifications	CA377486165	rs_1554825652	2 SubmittersRCV000588249 RCV003451331
NM_001382430.1(AKT1):c.957+3G>A	SNV Germline	Chr14:104773248	Conflicting classifications of pathogenicity	not specified Cowden syndrome 6	Criteria Provided Conflicting Classifications	CA658798276	rs_1219173005	2 SubmittersRCV000606636 RCV001229553
NM_006218.4(PIK3CA):c.178C>A (p.Gln60Lys)	SNV Germline	Chr3:179199003	Conflicting classifications of pathogenicity	Cowden syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA2710504	rs_71310379	3 SubmittersRCV000631212 RCV000998159
NM_000314.8(PTEN):c.48T>G (p.Tyr16Ter)	SNV Germline/somatic	Chr10:87864517	Pathogenic	PTEN hamartoma tumor syndrome Familial meningioma Cowden syndrome 1 Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA377781944	rs_587782187	7 SubmittersRCV000645066 RCV001195980 RCV001809711 RCV002334144
NM_006363.6(SEC23B):c.1404+5G>A	SNV Germline	Chr20:18535747	Likely pathogenic	Cowden syndrome 7 Congenital dyserythropoietic anemia, type II	Criteria Provided Single Submitter	CA658799346	rs_1555789463	1 SubmittersRCV000638849
NM_006363.6(SEC23B):c.1317G>T (p.Glu439Asp)	SNV Germline	Chr20:18535655	Conflicting classifications of pathogenicity	Cowden syndrome 7 Congenital dyserythropoietic anemia, type II Condition: not provided SEC23B-related disorder	Criteria Provided Conflicting Classifications	CA9778320	rs_147410912	4 SubmittersRCV000638851 RCV001509052 RCV004737916
NM_000314.8(PTEN):c.228T>G (p.Tyr76Ter)	SNV Germline	Chr10:87931064	Pathogenic	Condition: not provided Cowden syndrome 1	Criteria Provided Multiple Submitters No Conflicts		rs_1554897866	2 SubmittersRCV000657765 RCV003451610
NM_000314.8(PTEN):c.264T>A (p.Tyr88Ter)	SNV Germline	Chr10:87933023	Pathogenic	Condition: not provided PTEN hamartoma tumor syndrome Hereditary cancer-predisposing syndrome Cowden syndrome 1	Criteria Provided Multiple Submitters No Conflicts		rs_1554898056	4 SubmittersRCV000657581 RCV001855357 RCV004026011 RCV003451601
NM_000314.8(PTEN):c.414T>G (p.Tyr138Ter)	SNV Germline	Chr10:87933173	Pathogenic	Condition: not provided PTEN hamartoma tumor syndrome Cowden syndrome 1	Criteria Provided Multiple Submitters No Conflicts		rs_1554898161	3 SubmittersRCV000657582 RCV000699906 RCV003451602
NM_000314.8(PTEN):c.464A>C (p.Tyr155Ser)	SNV Germline	Chr10:87933223	Likely pathogenic	Cowden syndrome 1	Criteria Provided Single Submitter		rs_1060500126	1 SubmittersRCV000660235
NM_006218.4(PIK3CA):c.817A>G (p.Ile273Val)	SNV Germline	Chr3:179203547	Conflicting classifications of pathogenicity	Cowden syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_765030404	2 SubmittersRCV000692375 RCV002532213
NM_003002.4(SDHD):c.3G>A (p.Met1Ile)	SNV Germline	Chr11:112086910	Pathogenic	Carney-Stratakis syndrome Pheochromocytoma Cowden syndrome 3 Paragangliomas with sensorineural hearing loss Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_80338842	2 SubmittersRCV002232947 RCV002369946
NM_003002.4(SDHD):c.416T>G (p.Leu139Arg)	SNV Germline	Chr11:112094906	Likely pathogenic	Carney-Stratakis syndrome Paragangliomas with sensorineural hearing loss Pheochromocytoma Cowden syndrome 3	Criteria Provided Single Submitter		rs_80338847	1 SubmittersRCV002532294
NM_000314.8(PTEN):c.508A>C (p.Ser170Arg)	SNV Germline	Chr10:87952133	Pathogenic	PTEN hamartoma tumor syndrome Hereditary cancer-predisposing syndrome Cowden syndrome 1	Criteria Provided Multiple Submitters No Conflicts		rs_1554900534	3 SubmittersRCV000689896 RCV002343451 RCV003453439
NM_003002.4(SDHD):c.351G>T (p.Gly117=)	SNV Germline	Chr11:112094841	Conflicting classifications of pathogenicity	Carney-Stratakis syndrome Paragangliomas with sensorineural hearing loss Pheochromocytoma Cowden syndrome 3 Condition: not provided	Criteria Provided Conflicting Classifications		rs_1566702512	2 SubmittersRCV002547102 RCV003389826
NM_000314.8(PTEN):c.755A>T (p.Asp252Val)	SNV Germline	Chr10:87957973	Pathogenic/Likely pathogenic	PTEN hamartoma tumor syndrome Hereditary cancer-predisposing syndrome Cowden syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_121909239	3 SubmittersRCV000698131 RCV002388286 RCV003479201
NM_000314.8(PTEN):c.959T>A (p.Leu320Ter)	SNV Germline	Chr10:87961051	Pathogenic	PTEN hamartoma tumor syndrome Cowden syndrome 1 Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1114167667	3 SubmittersRCV000698110 RCV003453474 RCV004026431
NM_000314.8(PTEN):c.144C>A (p.Asn48Lys)	SNV Germline	Chr10:87894089	Pathogenic/Likely pathogenic	PTEN hamartoma tumor syndrome Hereditary cancer-predisposing syndrome Glioma susceptibility 2 Cowden syndrome 1	Criteria Provided Multiple Submitters No Conflicts		rs_762518389	5 SubmittersRCV000704361 RCV001011640 RCV003465631 RCV003453494
NM_000314.8(PTEN):c.210-2A>G	SNV Germline/somatic	Chr10:87931044	Pathogenic/Likely pathogenic	PTEN hamartoma tumor syndrome Condition: not provided Hereditary cancer-predisposing syndrome Cowden syndrome 1	Criteria Provided Multiple Submitters No Conflicts		rs_1564828914	4 SubmittersRCV000698937 RCV001542802 RCV002422549 RCV003229600
NM_000314.8(PTEN):c.385G>C (p.Gly129Arg)	SNV Germline	Chr10:87933144	Pathogenic	Cowden syndrome 1 Hereditary cancer-predisposing syndrome PTEN hamartoma tumor syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_786204929	3 SubmittersRCV000991299 RCV002354897 RCV001257205
NM_006363.6(SEC23B):c.1507C>T (p.Arg503Ter)	SNV Germline	Chr20:18542398	Pathogenic/Likely pathogenic	Congenital dyserythropoietic anemia, type II Cowden syndrome 7 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1568617456	2 SubmittersRCV000691489 RCV002269303
NM_001382430.1(AKT1):c.176-5C>T	SNV Germline	Chr14:104776775	Conflicting classifications of pathogenicity	Cowden syndrome 6 Condition: not provided	Criteria Provided Conflicting Classifications		rs_377076374	2 SubmittersRCV000706963 RCV004692197
NM_006363.6(SEC23B):c.1665+6T>C	SNV Germline	Chr20:18543178	Conflicting classifications of pathogenicity	Cowden syndrome 7 Congenital dyserythropoietic anemia, type II Congenital dyserythropoietic anemia, type II Condition: not provided SEC23B-related disorder	Criteria Provided Conflicting Classifications		rs_371786580	5 SubmittersRCV000692503 RCV001141559 RCV001811442 RCV004737954
NM_003000.3(SDHB):c.769C>G (p.Leu257Val)	SNV Germline	Chr1:17018955	Conflicting classifications of pathogenicity	Cowden syndrome Paragangliomas 4 Gastrointestinal stromal tumor Pheochromocytoma Mitochondrial complex 2 deficiency, nuclear type 4 Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_761350633	5 SubmittersRCV000708779 RCV000819850 RCV001310279 RCV002268269 RCV004659188
NM_000314.8(PTEN):c.209+2T>C	SNV Germline	Chr10:87925559	Pathogenic/Likely pathogenic	PTEN hamartoma tumor syndrome Familial meningioma Condition: not provided Cowden syndrome 1	Criteria Provided Multiple Submitters No Conflicts		rs_878853937	5 SubmittersRCV000709130 RCV001195751 RCV001546761 RCV003141713
NM_000314.8(PTEN):c.635-2A>G	SNV Germline	Chr10:87957851	Pathogenic/Likely pathogenic	Condition: not provided PTEN hamartoma tumor syndrome Cowden syndrome 1	Criteria Provided Multiple Submitters No Conflicts		rs_1564566706	5 SubmittersRCV000729356 RCV000792482 RCV003453520
NM_000314.8(PTEN):c.654C>A (p.Cys218Ter)	SNV Germline	Chr10:87957872	Pathogenic	Cowden syndrome 1 Condition: not provided PTEN hamartoma tumor syndrome Cowden syndrome 1 Glioma susceptibility 2 Macrocephaly-autism syndrome Familial prostate cancer Familial meningioma	Criteria Provided Multiple Submitters No Conflicts		rs_1554825165	5 SubmittersRCV000778090 RCV003222126 RCV003509605 RCV004796303
NM_006363.6(SEC23B):c.1201C>T (p.Arg401Ter)	SNV Germline	Chr20:18530771	Conflicting classifications of pathogenicity	Cowden syndrome 7 Congenital dyserythropoietic anemia, type II Congenital dyserythropoietic anemia, type II Condition: not provided	Criteria Provided Conflicting Classifications		rs_1403456625	4 SubmittersRCV003768444 RCV000779340 RCV001509050
NM_000314.8(PTEN):c.1026+1G>T	SNV Germline	Chr10:87961119	Pathogenic/Likely pathogenic	Condition: not provided PTEN hamartoma tumor syndrome Cowden syndrome 1	Criteria Provided Multiple Submitters No Conflicts		rs_786201041	4 SubmittersRCV000786804 RCV001220442 RCV003453623
NM_000314.8(PTEN):c.1027-2A>T	SNV Unknown	Chr10:87965285	Likely pathogenic	Cowden syndrome 1 Condition: not provided	Criteria Provided Single Submitter		rs_1085308041	2 SubmittersRCV003453622 RCV000786803
NM_006218.4(PIK3CA):c.3197C>T (p.Ala1066Val)	SNV Germline	Chr3:179234354	Conflicting classifications of pathogenicity	Cowden syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_1253171657	2 SubmittersRCV000803359 RCV001772073
NM_000314.8(PTEN):c.277C>T (p.His93Tyr)	SNV Germline	Chr10:87933036	Pathogenic/Likely pathogenic	PTEN hamartoma tumor syndrome Hereditary cancer-predisposing syndrome Cowden syndrome 1	Criteria Provided Multiple Submitters No Conflicts		rs_786204927	3 SubmittersRCV000801387 RCV002440676 RCV003453667
NM_003002.4(SDHD):c.119T>C (p.Ile40Thr)	SNV Germline	Chr11:112087923	Conflicting classifications of pathogenicity	Paragangliomas with sensorineural hearing loss Pheochromocytoma Cowden syndrome 3 Carney-Stratakis syndrome Hereditary cancer-predisposing syndrome Mitochondrial complex 2 deficiency, nuclear type 3 Hereditary pheochromocytoma-paraganglioma	Criteria Provided Conflicting Classifications		rs_1592778916	4 SubmittersRCV002535923 RCV004027515 RCV004569534 RCV004803220
NM_003002.4(SDHD):c.232G>C (p.Gly78Arg)	SNV Germline	Chr11:112088929	Conflicting classifications of pathogenicity	Cowden syndrome 3 Carney-Stratakis syndrome Pheochromocytoma Paragangliomas 1 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_1592780479	2 SubmittersRCV000811684 RCV004028737
NM_003002.4(SDHD):c.243G>A (p.Pro81=)	SNV Germline	Chr11:112088940	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Paragangliomas with sensorineural hearing loss Pheochromocytoma Carney-Stratakis syndrome Cowden syndrome 3	Criteria Provided Conflicting Classifications		rs_575262156	3 SubmittersRCV001015544 RCV000986021 RCV002235584
NM_003002.4(SDHD):c.305A>G (p.His102Arg)	SNV Germline	Chr11:112089002	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Paragangliomas with sensorineural hearing loss Cowden syndrome 3 Carney-Stratakis syndrome Pheochromocytoma Paragangliomas 1	Criteria Provided Multiple Submitters No Conflicts		rs_104894302	3 SubmittersRCV001018360 RCV002538159 RCV004028788
NM_006363.6(SEC23B):c.985G>T (p.Ala329Ser)	SNV Germline	Chr20:18526523	Conflicting classifications of pathogenicity	Congenital dyserythropoietic anemia, type II Cowden syndrome 7 Cowden syndrome 7 Condition: not provided	Criteria Provided Conflicting Classifications		rs_143417821	3 SubmittersRCV000794676 RCV001772048 RCV004692261
NM_006218.4(PIK3CA):c.2937-3T>C	SNV Germline	Chr3:179234091	Conflicting classifications of pathogenicity	Cowden syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_760056670	2 SubmittersRCV000813809 RCV003437435
NM_003002.4(SDHD):c.52+2T>C	SNV Germline	Chr11:112086961	Pathogenic	Carney-Stratakis syndrome Paragangliomas with sensorineural hearing loss Pheochromocytoma Cowden syndrome 3	Criteria Provided Single Submitter		rs_587776644	1 SubmittersRCV002537516
NM_000314.8(PTEN):c.802-1G>A	SNV Germline	Chr10:87960893	Pathogenic/Likely pathogenic	Macrocephaly-autism syndrome PTEN hamartoma tumor syndrome Condition: not provided Hereditary cancer-predisposing syndrome Cowden syndrome 1	Criteria Provided Multiple Submitters No Conflicts		rs_1257124719	5 SubmittersRCV000850161 RCV001211799 RCV001572487 RCV003169079 RCV003453773
NM_003002.4(SDHD):c.340T>C (p.Tyr114His)	SNV Germline	Chr11:112094830	Conflicting classifications of pathogenicity	Pheochromocytoma Cowden syndrome 3 Pheochromocytoma Carney-Stratakis syndrome Paragangliomas with sensorineural hearing loss Hereditary pheochromocytoma-paraganglioma	Criteria Provided Conflicting Classifications		rs_876659276	3 SubmittersRCV000856585 RCV002536208 RCV004002908
NM_006363.6(SEC23B):c.1512-10G>T	SNV Germline	Chr20:18543009	Conflicting classifications of pathogenicity	not specified Congenital dyserythropoietic anemia, type II Cowden syndrome 7 SEC23B-related disorder	Criteria Provided Conflicting Classifications		rs_770601333	3 SubmittersRCV001001163 RCV002539253 RCV004549995
NM_006363.6(SEC23B):c.1743+168A>G	SNV Germline	Chr20:18546201	Conflicting classifications of pathogenicity	Cowden syndrome 7 Congenital dyserythropoietic anemia, type II Condition: not provided	Criteria Provided Conflicting Classifications		rs_111951711	5 SubmittersRCV000877909 RCV001509054
NM_006363.6(SEC23B):c.1527G>A (p.Gln509=)	SNV Germline	Chr20:18543034	Conflicting classifications of pathogenicity	Congenital dyserythropoietic anemia, type II Congenital dyserythropoietic anemia, type II Cowden syndrome 7	Criteria Provided Conflicting Classifications		rs_201943863	2 SubmittersRCV001138958 RCV002545986
NM_006363.6(SEC23B):c.1595G>C (p.Gly532Ala)	SNV Germline	Chr20:18543102	Conflicting classifications of pathogenicity	Congenital dyserythropoietic anemia, type II Cowden syndrome 7 Condition: not provided SEC23B-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_143456757	5 SubmittersRCV000945878 RCV002227230 RCV004553382 RCV004659276
NM_006363.6(SEC23B):c.2031G>A (p.Met677Ile)	SNV Germline	Chr20:18554273	Conflicting classifications of pathogenicity	Congenital dyserythropoietic anemia, type II Cowden syndrome 7 Congenital dyserythropoietic anemia, type II Condition: not provided	Criteria Provided Conflicting Classifications		rs_202187007	3 SubmittersRCV000946264 RCV001141560 RCV004792585
NM_006363.6(SEC23B):c.1380C>A (p.Gly460=)	SNV Germline	Chr20:18535718	Conflicting classifications of pathogenicity	Congenital dyserythropoietic anemia, type II Congenital dyserythropoietic anemia, type II Cowden syndrome 7	Criteria Provided Conflicting Classifications		rs_201656419	2 SubmittersRCV001136712 RCV003768893
NM_006218.4(PIK3CA):c.2597T>G (p.Leu866Trp)	SNV Unknown	Chr3:179229373	Likely pathogenic	Cowden syndrome 1	Criteria Provided Single Submitter		rs_1576947658	1 SubmittersRCV000987366
NM_006363.6(SEC23B):c.770C>T (p.Thr257Ile)	SNV Germline	Chr20:18525868	Conflicting classifications of pathogenicity	Congenital dyserythropoietic anemia, type II Cowden syndrome 7 Congenital dyserythropoietic anemia, type II Condition: not provided	Criteria Provided Conflicting Classifications		rs_146917730	6 SubmittersRCV001143287 RCV001516029 RCV001619877
NM_000314.8(PTEN):c.100G>C (p.Ala34Pro)	SNV Germline	Chr10:87894045	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Cowden syndrome 1 PTEN hamartoma tumor syndrome	Criteria Provided Conflicting Classifications		rs_1589617199	3 SubmittersRCV001016983 RCV003316820 RCV002551798
NM_000314.8(PTEN):c.302T>C (p.Ile101Thr)	SNV Germline	Chr10:87933061	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome PTEN hamartoma tumor syndrome Cowden syndrome 1 Glioma susceptibility 2 Condition: not provided PTEN hamartoma tumor syndrome Bannayan-Riley-Ruvalcaba syndrome Macrocephaly-autism syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1339631701	7 SubmittersRCV001018187 RCV001055467 RCV003152744 RCV003461368 RCV001547112 RCV003987762
NM_000314.8(PTEN):c.365T>G (p.Ile122Ser)	SNV Germline	Chr10:87933124	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome PTEN hamartoma tumor syndrome Cowden syndrome 1	Criteria Provided Conflicting Classifications		rs_1589646321	3 SubmittersRCV001020824 RCV001214316 RCV003455115
NM_000314.8(PTEN):c.370T>A (p.Cys124Ser)	SNV Germline	Chr10:87933129	Likely pathogenic	Hereditary cancer-predisposing syndrome Cowden syndrome 1	Criteria Provided Multiple Submitters No Conflicts		rs_121909223	2 SubmittersRCV001020946 RCV001254106
NM_000314.8(PTEN):c.510T>G (p.Ser170Arg)	SNV Germline	Chr10:87952135	Pathogenic	Hereditary cancer-predisposing syndrome Cowden syndrome 1 PTEN hamartoma tumor syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_121909221	4 SubmittersRCV001023564 RCV003455124 RCV003509648 RCV003478652
NM_000314.8(PTEN):c.542T>C (p.Leu181Pro)	SNV Germline	Chr10:87952167	Pathogenic	Hereditary cancer-predisposing syndrome PTEN hamartoma tumor syndrome Macrocephaly-autism syndrome Cowden syndrome 1	Reviewed By Expert Panel		rs_1589659492	5 SubmittersRCV001024095 RCV001213247 RCV001332361 RCV003455127
NM_003002.4(SDHD):c.209G>C (p.Arg70Thr)	SNV Germline	Chr11:112088906	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Pheochromocytoma Carney-Stratakis syndrome Cowden syndrome 3 Paragangliomas with sensorineural hearing loss	Criteria Provided Conflicting Classifications		rs_755047928	3 SubmittersRCV001014432 RCV001597242 RCV003769463
NM_000314.8(PTEN):c.210-2A>C	SNV Germline	Chr10:87931044	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome PTEN hamartoma tumor syndrome Cowden syndrome 1 PTEN-related disorder	Criteria Provided Multiple Submitters No Conflicts		rs_1564828914	4 SubmittersRCV001014443 RCV001035561 RCV003455084 RCV004536049
NM_000314.8(PTEN):c.493-1G>C	SNV Germline	Chr10:87952117	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Cowden syndrome 1	Criteria Provided Multiple Submitters No Conflicts		rs_786204862	3 SubmittersRCV001023286 RCV003332284 RCV003455123
NM_000314.8(PTEN):c.802-1G>T	SNV Germline	Chr10:87960893	Pathogenic	Hereditary cancer-predisposing syndrome PTEN hamartoma tumor syndrome Cowden syndrome 1	Criteria Provided Multiple Submitters No Conflicts		rs_1257124719	3 SubmittersRCV001027078 RCV001385103 RCV003316824
NM_003002.4(SDHD):c.52+1G>A	SNV Germline	Chr11:112086960	Pathogenic	Hereditary cancer-predisposing syndrome Pheochromocytoma Carney-Stratakis syndrome Cowden syndrome 3 Paragangliomas with sensorineural hearing loss	Criteria Provided Multiple Submitters No Conflicts		rs_1592777386	2 SubmittersRCV001023716 RCV001873376
NM_000314.8(PTEN):c.386G>T (p.Gly129Val)	SNV Germline	Chr10:87933145	Pathogenic/Likely pathogenic	PTEN hamartoma tumor syndrome Hereditary cancer-predisposing syndrome Cowden syndrome 1	Criteria Provided Multiple Submitters No Conflicts		rs_121909218	3 SubmittersRCV001061416 RCV002355068 RCV003455279
NM_000314.8(PTEN):c.394G>A (p.Gly132Ser)	SNV Germline	Chr10:87933153	Pathogenic/Likely pathogenic	PTEN hamartoma tumor syndrome Condition: not provided Macrocephaly-autism syndrome Cowden syndrome 1	Criteria Provided Multiple Submitters No Conflicts		rs_1859977029	4 SubmittersRCV001062336 RCV001819787 RCV002274130 RCV003336301
NM_000314.8(PTEN):c.494G>A (p.Gly165Glu)	SNV Germline	Chr10:87952119	Conflicting classifications of pathogenicity	PTEN hamartoma tumor syndrome Cowden syndrome 1	Criteria Provided Conflicting Classifications		rs_786204863	2 SubmittersRCV001047166 RCV002471014
NM_003002.4(SDHD):c.91A>G (p.Ile31Val)	SNV Germline	Chr11:112087895	Conflicting classifications of pathogenicity	Hereditary pheochromocytoma-paraganglioma Hereditary cancer-predisposing syndrome not specified Paragangliomas with sensorineural hearing loss Carney-Stratakis syndrome Pheochromocytoma Cowden syndrome 3	Criteria Provided Conflicting Classifications		rs_1865653068	4 SubmittersRCV004000160 RCV002374977 RCV003151276 RCV002240532
NM_003002.4(SDHD):c.304C>T (p.His102Tyr)	SNV Germline	Chr11:112089001	Pathogenic/Likely pathogenic	Pheochromocytoma Paragangliomas with sensorineural hearing loss Cowden syndrome 3 Carney-Stratakis syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_786202403	2 SubmittersRCV002240202 RCV002445259
NM_001382430.1(AKT1):c.1005G>A (p.Leu335=)	SNV Germline	Chr14:104773045	Conflicting classifications of pathogenicity	Cowden syndrome 6 Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_758651475	2 SubmittersRCV001049600 RCV003372957
NM_006363.6(SEC23B):c.434A>G (p.Gln145Arg)	SNV Germline	Chr20:18524500	Conflicting classifications of pathogenicity	Congenital dyserythropoietic anemia, type II Cowden syndrome 7 Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications		rs_140466726	3 SubmittersRCV001045553 RCV002553124 RCV003736965
NM_003002.4(SDHD):c.53-10C>G	SNV Germline	Chr11:112087847	Conflicting classifications of pathogenicity	Pheochromocytoma Cowden syndrome 3 Carney-Stratakis syndrome Paragangliomas with sensorineural hearing loss Hereditary pheochromocytoma-paraganglioma	Criteria Provided Conflicting Classifications		rs_201350484	2 SubmittersRCV002240349 RCV004000090
NM_006363.6(SEC23B):c.1413C>T (p.Thr471=)	SNV Germline	Chr20:18542304	Conflicting classifications of pathogenicity	Congenital dyserythropoietic anemia, type II Cowden syndrome 7 Congenital dyserythropoietic anemia, type II	Criteria Provided Conflicting Classifications		rs_900752773	2 SubmittersRCV001138956 RCV003769661
NM_006363.6(SEC23B):c.1234-11A>G	SNV Germline	Chr20:18532653	Conflicting classifications of pathogenicity	Congenital dyserythropoietic anemia, type II Cowden syndrome 7 Congenital dyserythropoietic anemia, type II Condition: not provided	Criteria Provided Conflicting Classifications		rs_187699090	3 SubmittersRCV001136711 RCV003769645 RCV004694842
NM_000314.8(PTEN):c.888T>A (p.Cys296Ter)	SNV Germline	Chr10:87960980	Pathogenic/Likely pathogenic	Cowden syndrome Hereditary cancer-predisposing syndrome Cowden syndrome 1	Criteria Provided Multiple Submitters No Conflicts		rs_1589665853	3 SubmittersRCV001174696 RCV002375053 RCV003449567
NM_006363.6(SEC23B):c.716A>G (p.Asp239Gly)	SNV Germline	Chr20:18525814	Conflicting classifications of pathogenicity	Congenital dyserythropoietic anemia, type II Congenital dyserythropoietic anemia, type II Cowden syndrome 7	Criteria Provided Conflicting Classifications		rs_761034212	3 SubmittersRCV001199101 RCV002559272
NM_000314.8(PTEN):c.509G>A (p.Ser170Asn)	SNV Germline	Chr10:87952134	Likely pathogenic	PTEN hamartoma tumor syndrome Cowden syndrome 1	Criteria Provided Multiple Submitters No Conflicts		rs_876660507	2 SubmittersRCV001223749 RCV003449708
NM_003002.4(SDHD):c.305A>C (p.His102Pro)	SNV Germline	Chr11:112089002	Likely pathogenic	Pheochromocytoma Cowden syndrome 3 Paragangliomas with sensorineural hearing loss Carney-Stratakis syndrome	Criteria Provided Single Submitter		rs_104894302	1 SubmittersRCV002241296
NM_000314.8(PTEN):c.212G>A (p.Cys71Tyr)	SNV Germline	Chr10:87931048	Pathogenic	PTEN hamartoma tumor syndrome Cowden syndrome 1 Condition: not provided Cowden syndrome 1 Macrocephaly-autism syndrome Glioma susceptibility 2 Familial prostate cancer Familial meningioma	Reviewed By Expert Panel		rs_1554897856	6 SubmittersRCV001205381 RCV003449650 RCV001812250 RCV004796372
NM_000314.8(PTEN):c.164+1G>A	SNV Germline	Chr10:87894110	Pathogenic	PTEN hamartoma tumor syndrome Hereditary cancer-predisposing syndrome Cowden syndrome 1	Criteria Provided Multiple Submitters No Conflicts		rs_1554893835	3 SubmittersRCV001201578 RCV002402569 RCV003449641
NM_006218.4(PIK3CA):c.1026C>G (p.Thr342=)	SNV Germline	Chr3:179203756	Conflicting classifications of pathogenicity	Cowden syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_1724483318	2 SubmittersRCV001237811 RCV002379908
NM_003002.4(SDHD):c.139C>T (p.Gln47Ter)	SNV Germline	Chr11:112087943	Pathogenic	Condition: not provided Pheochromocytoma Paragangliomas with sensorineural hearing loss Carney-Stratakis syndrome Cowden syndrome 3	Criteria Provided Multiple Submitters No Conflicts		rs_1865655722	2 SubmittersRCV001565798 RCV002241480
NM_003002.4(SDHD):c.113G>A (p.Arg38Gln)	SNV Germline	Chr11:112087917	Conflicting classifications of pathogenicity	Carney-Stratakis syndrome Pheochromocytoma Paragangliomas with sensorineural hearing loss Cowden syndrome 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_199901239	2 SubmittersRCV002241639 RCV002451612
NM_000314.8(PTEN):c.269T>C (p.Phe90Ser)	SNV Germline/somatic	Chr10:87933028	Pathogenic/Likely pathogenic	Intellectual disability Cowden syndrome 1 PTEN hamartoma tumor syndrome Neoplasm	Criteria Provided Multiple Submitters No Conflicts		rs_1859965098	4 SubmittersRCV001255368 RCV001253477 RCV003509660 RCV004671304
NM_000314.8(PTEN):c.103A>C (p.Met35Leu)	SNV Germline	Chr10:87894048	Likely pathogenic	Cowden syndrome 1	Criteria Provided Single Submitter		rs_876659443	1 SubmittersRCV001254105
NM_000314.8(PTEN):c.37A>G (p.Lys13Glu)	SNV Germline	Chr10:87864506	Likely pathogenic	Cowden syndrome PTEN hamartoma tumor syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1554890348	2 SubmittersRCV001269396 RCV002465860
NM_000314.8(PTEN):c.529T>G (p.Tyr177Asp)	SNV Germline	Chr10:87952154	Conflicting classifications of pathogenicity	Cowden syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_1860418425	2 SubmittersRCV001269398 RCV003353267
NM_000314.8(PTEN):c.827A>T (p.Asn276Ile)	SNV Germline	Chr10:87960919	Conflicting classifications of pathogenicity	Cowden syndrome PTEN hamartoma tumor syndrome	Criteria Provided Conflicting Classifications		rs_1860618095	2 SubmittersRCV001269399 RCV003619741
NM_006218.4(PIK3CA):c.2592C>T (p.Gly864=)	SNV Germline	Chr3:179229368	Conflicting classifications of pathogenicity	Cowden syndrome Inborn genetic diseases PIK3CA-related disorder Condition: not provided	Criteria Provided Conflicting Classifications		rs_780492649	4 SubmittersRCV001307339 RCV002430117 RCV004545194 RCV004692460
NM_001382430.1(AKT1):c.1173G>A (p.Arg391=)	SNV Germline	Chr14:104772452	Conflicting classifications of pathogenicity	Cowden syndrome 6 Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_889505130	2 SubmittersRCV001295011 RCV003166637
NM_003002.4(SDHD):c.180G>A (p.Lys60=)	SNV Germline	Chr11:112088877	Conflicting classifications of pathogenicity	Paragangliomas with sensorineural hearing loss Cowden syndrome 3 Pheochromocytoma Carney-Stratakis syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_750688879	2 SubmittersRCV002241923 RCV002411997
NM_000314.8(PTEN):c.276C>G (p.Asp92Glu)	SNV Germline	Chr10:87933035	Conflicting classifications of pathogenicity	PTEN hamartoma tumor syndrome Cowden syndrome 1	Criteria Provided Conflicting Classifications		rs_779530981	2 SubmittersRCV001347115 RCV003449974
NM_000314.8(PTEN):c.959T>C (p.Leu320Ser)	SNV Germline	Chr10:87961051	Conflicting classifications of pathogenicity	PTEN hamartoma tumor syndrome Condition: not provided Hereditary cancer-predisposing syndrome Cowden syndrome 1	Criteria Provided Conflicting Classifications		rs_1114167667	4 SubmittersRCV001347116 RCV001586139 RCV002377474 RCV003449975
NM_001382430.1(AKT1):c.954C>A (p.Pro318=)	SNV Germline	Chr14:104773254	Conflicting classifications of pathogenicity	Cowden syndrome 6 Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_746944273	2 SubmittersRCV001346452 RCV002377469
NM_006363.6(SEC23B):c.358G>A (p.Val120Met)	SNV Germline	Chr20:18515728	Conflicting classifications of pathogenicity	Congenital dyserythropoietic anemia, type II Cowden syndrome 7 Condition: not provided	Criteria Provided Conflicting Classifications		rs_372784283	3 SubmittersRCV001351710 RCV004692620
NM_006218.4(PIK3CA):c.2908G>A (p.Glu970Lys)	SNV Germline	Chr3:179230348	Pathogenic/Likely pathogenic	Cowden syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_2108425281	2 SubmittersRCV001366657 RCV002255184
NM_000314.8(PTEN):c.752G>A (p.Gly251Asp)	SNV Germline	Chr10:87957970	Conflicting classifications of pathogenicity	Cowden syndrome 1 Condition: not provided Bannayan-Riley-Ruvalcaba syndrome Cowden syndrome PTEN hamartoma tumor syndrome	Criteria Provided Conflicting Classifications		rs_1554825226	3 SubmittersRCV001374613 RCV001762656 RCV003223419
NM_000314.8(PTEN):c.376G>C (p.Ala126Pro)	SNV Germline	Chr10:87933135	Pathogenic/Likely pathogenic	PTEN hamartoma tumor syndrome Cowden syndrome 1	Criteria Provided Multiple Submitters No Conflicts		rs_1554898129	2 SubmittersRCV001378255 RCV003450046
NM_000314.8(PTEN):c.493G>C (p.Gly165Arg)	SNV Germline	Chr10:87952118	Pathogenic/Likely pathogenic	PTEN hamartoma tumor syndrome Cowden syndrome 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_587782603	4 SubmittersRCV001378791 RCV003450047 RCV004779114
NM_003002.4(SDHD):c.53-1G>T	SNV Germline	Chr11:112087856	Likely pathogenic	Carney-Stratakis syndrome Pheochromocytoma Paragangliomas with sensorineural hearing loss Cowden syndrome 3	Criteria Provided Single Submitter		rs_1291507545	1 SubmittersRCV002242783
NM_000314.8(PTEN):c.184A>T (p.Lys62Ter)	SNV Germline	Chr10:87925532	Pathogenic	PTEN hamartoma tumor syndrome Cowden syndrome 1	Criteria Provided Multiple Submitters No Conflicts		rs_1564826779	2 SubmittersRCV001381909 RCV003992512
NM_000314.8(PTEN):c.250A>T (p.Arg84Ter)	SNV Germline	Chr10:87931086	Pathogenic	PTEN hamartoma tumor syndrome Hereditary cancer-predisposing syndrome Cowden syndrome 1	Criteria Provided Multiple Submitters No Conflicts		rs_1554897880	3 SubmittersRCV001389652 RCV004037705 RCV003451686
NM_003002.4(SDHD):c.405C>T (p.Thr135=)	SNV Germline	Chr11:112094895	Conflicting classifications of pathogenicity	Pheochromocytoma Cowden syndrome 3 Carney-Stratakis syndrome Paragangliomas with sensorineural hearing loss Hereditary pheochromocytoma-paraganglioma Condition: not provided	Criteria Provided Conflicting Classifications		rs_1555187606	3 SubmittersRCV002236314 RCV004804170 RCV004590438
NM_001382430.1(AKT1):c.288-4G>T	SNV Germline	Chr14:104775803	Conflicting classifications of pathogenicity	Cowden syndrome 6	Criteria Provided Conflicting Classifications		rs_778501455	2 SubmittersRCV001478081
NM_006363.6(SEC23B):c.2268C>T (p.Asp756=)	SNV Germline	Chr20:18560704	Conflicting classifications of pathogenicity	Condition: not provided Congenital dyserythropoietic anemia, type II Cowden syndrome 7	Criteria Provided Conflicting Classifications		rs_530834583	2 SubmittersRCV001509057 RCV002070286
NM_000314.8(PTEN):c.83T>C (p.Ile28Thr)	SNV Germline	Chr10:87894028	Conflicting classifications of pathogenicity	Condition: not provided PTEN hamartoma tumor syndrome Cowden syndrome 1 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_1355570425	5 SubmittersRCV001553520 RCV003771693 RCV004762159 RCV004945693
NM_000314.8(PTEN):c.379G>T (p.Gly127Ter)	SNV Germline	Chr10:87933138	Pathogenic	Condition: not provided Cowden syndrome 1	Criteria Provided Multiple Submitters No Conflicts		rs_587781255	2 SubmittersRCV001558159 RCV003451811
NM_000314.8(PTEN):c.492+1G>A	SNV Germline/somatic	Chr10:87933252	Pathogenic/Likely pathogenic	Condition: not provided PTEN hamartoma tumor syndrome Cowden syndrome Hereditary cancer-predisposing syndrome Cowden syndrome 1	Criteria Provided Multiple Submitters No Conflicts		rs_1554898242	7 SubmittersRCV001585039 RCV001882705 RCV002241380 RCV002343756 RCV003451820
NM_003002.4(SDHD):c.49C>T (p.Arg17Ter)	SNV Germline	Chr11:112086956	Pathogenic	Hereditary cancer-predisposing syndrome Cowden syndrome 3 Carney-Stratakis syndrome Pheochromocytoma Paragangliomas with sensorineural hearing loss Condition: not provided Paragangliomas 1	Criteria Provided Multiple Submitters No Conflicts		rs_1314133983	5 SubmittersRCV002334687 RCV002540717 RCV003107848 RCV003451913
NM_006363.6(SEC23B):c.1385A>G (p.Tyr462Cys)	SNV Germline	Chr20:18535723	Conflicting classifications of pathogenicity	Condition: not provided Congenital dyserythropoietic anemia, type II Congenital dyserythropoietic anemia, type II Cowden syndrome 7	Criteria Provided Conflicting Classifications		rs_780978419	6 SubmittersRCV001783720 RCV001823309 RCV003772156
NM_003002.4(SDHD):c.126A>G (p.Glu42=)	SNV Germline	Chr11:112087930	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Cowden syndrome 3 Carney-Stratakis syndrome Pheochromocytoma Paragangliomas with sensorineural hearing loss	Criteria Provided Conflicting Classifications		rs_2135267333	3 SubmittersRCV001801106 RCV002449429 RCV003772204
NM_006363.6(SEC23B):c.221+76A>G	SNV Germline	Chr20:18511132	Conflicting classifications of pathogenicity	Condition: not provided Congenital dyserythropoietic anemia, type II Cowden syndrome 7	Criteria Provided Conflicting Classifications		rs_183784857	3 SubmittersRCV001811858 RCV002074159
NM_000314.8(PTEN):c.493-1G>T	SNV Germline	Chr10:87952117	Pathogenic/Likely pathogenic	Macrocephaly-autism syndrome Hereditary cancer-predisposing syndrome Cowden syndrome 1	Criteria Provided Multiple Submitters No Conflicts		rs_786204862	3 SubmittersRCV001808854 RCV002334703 RCV003451954
NM_000314.8(PTEN):c.106G>A (p.Gly36Arg)	SNV Germline	Chr10:87894051	Likely pathogenic	Macrocephaly-autism syndrome Cowden syndrome 1 PTEN hamartoma tumor syndrome Hereditary cancer-predisposing syndrome Cowden syndrome 1	Reviewed By Expert Panel		rs_786204854	5 SubmittersRCV001814732 RCV001885301 RCV002406896 RCV003316850
NM_000314.8(PTEN):c.373A>G (p.Lys125Glu)	SNV Germline	Chr10:87933132	Conflicting classifications of pathogenicity	Condition: not provided PTEN hamartoma tumor syndrome Cowden syndrome 1 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_1554898127	4 SubmittersRCV001817633 RCV002542697 RCV003451963 RCV004040997
NM_006363.6(SEC23B):c.1603C>T (p.Arg535Ter)	SNV Germline	Chr20:18543110	Pathogenic	Congenital dyserythropoietic anemia, type II Cowden syndrome 7	Criteria Provided Single Submitter		rs_201921350	1 SubmittersRCV001894286
NM_006218.4(PIK3CA):c.3145G>T (p.Gly1049Cys)	SNV Germline	Chr3:179234302	Likely pathogenic	Cowden syndrome	Criteria Provided Single Submitter		rs_121913277	1 SubmittersRCV002043221
NM_003002.4(SDHD):c.70C>T (p.Pro24Ser)	SNV Germline	Chr11:112087874	Conflicting classifications of pathogenicity	Pheochromocytoma Paragangliomas with sensorineural hearing loss Carney-Stratakis syndrome Cowden syndrome 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_775986509	2 SubmittersRCV002005249 RCV002361328
NM_000314.8(PTEN):c.287C>A (p.Pro96Gln)	SNV Germline	Chr10:87933046	Pathogenic/Likely pathogenic	PTEN hamartoma tumor syndrome Cowden syndrome 1	Criteria Provided Multiple Submitters No Conflicts		rs_1554898074	2 SubmittersRCV001953843 RCV003453874
NM_000314.8(PTEN):c.43A>T (p.Arg15Ter)	SNV Germline	Chr10:87864512	Pathogenic	PTEN hamartoma tumor syndrome Cowden syndrome 1	Criteria Provided Multiple Submitters No Conflicts		rs_2132145750	2 SubmittersRCV001919652 RCV003452174
NM_006218.4(PIK3CA):c.1857G>A (p.Leu619=)	SNV Germline	Chr3:179219681	Conflicting classifications of pathogenicity	Cowden syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_765176108	2 SubmittersRCV001919445 RCV004955864
NM_001382430.1(AKT1):c.1092G>A (p.Glu364=)	SNV Germline	Chr14:104772958	Conflicting classifications of pathogenicity	Cowden syndrome 6 Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_773975370	2 SubmittersRCV001947554 RCV003164183
NM_003002.4(SDHD):c.169+1G>T	SNV Germline	Chr11:112087974	Pathogenic	Pheochromocytoma Carney-Stratakis syndrome Paragangliomas with sensorineural hearing loss Cowden syndrome 3	Criteria Provided Single Submitter		rs_2135267557	1 SubmittersRCV001994720
NM_003002.4(SDHD):c.413G>A (p.Gly138Glu)	SNV Germline	Chr11:112094903	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Carney-Stratakis syndrome Paragangliomas with sensorineural hearing loss Cowden syndrome 3 Pheochromocytoma	Criteria Provided Conflicting Classifications		rs_1401695686	2 SubmittersRCV003348710 RCV001990958
NM_003002.4(SDHD):c.317G>A (p.Gly106Asp)	SNV Germline	Chr11:112094807	Pathogenic/Likely pathogenic	Pheochromocytoma Cowden syndrome 3 Carney-Stratakis syndrome Paragangliomas with sensorineural hearing loss Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1555187574	2 SubmittersRCV001913139 RCV002324301
NM_000314.8(PTEN):c.71A>T (p.Asp24Val)	SNV Germline	Chr10:87864540	Likely pathogenic	PTEN hamartoma tumor syndrome Cowden syndrome 1	Criteria Provided Multiple Submitters No Conflicts		rs_797044910	2 SubmittersRCV002043319 RCV004046709
NM_003002.4(SDHD):c.169+1G>A	SNV Germline	Chr11:112087974	Pathogenic	Pheochromocytoma Carney-Stratakis syndrome Paragangliomas with sensorineural hearing loss Cowden syndrome 3	Criteria Provided Single Submitter		rs_2135267557	1 SubmittersRCV001958656
NM_006363.6(SEC23B):c.2101C>T (p.Arg701Cys)	SNV Germline	Chr20:18554343	Pathogenic/Likely pathogenic	Congenital dyserythropoietic anemia, type II Cowden syndrome 7 SEC23B-related disorder Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_201270568	4 SubmittersRCV002020875 RCV002222748 RCV003130680
NM_000314.8(PTEN):c.143A>G (p.Asn48Ser)	SNV Germline	Chr10:87894088	Conflicting classifications of pathogenicity	PTEN hamartoma tumor syndrome Cowden syndrome 1	Criteria Provided Conflicting Classifications		rs_1859098783	2 SubmittersRCV001914799 RCV003234131
NM_003002.4(SDHD):c.450C>T (p.Cys150=)	SNV Germline	Chr11:112094940	Conflicting classifications of pathogenicity	Cowden syndrome 3 Pheochromocytoma Paragangliomas with sensorineural hearing loss Carney-Stratakis syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_201337439	3 SubmittersRCV002140034 RCV002337361 RCV004763335
NM_003002.4(SDHD):c.170-20G>T	SNV Germline	Chr11:112088847	Conflicting classifications of pathogenicity	Carney-Stratakis syndrome Cowden syndrome 3 Paragangliomas with sensorineural hearing loss Pheochromocytoma Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_2135269091	2 SubmittersRCV002082844 RCV004017892
NM_000314.8(PTEN):c.2T>C (p.Met1Thr)	SNV Germline	Chr10:87864471	Pathogenic	Cowden syndrome 1	Criteria Provided Single Submitter		rs_1858394001	1 SubmittersRCV002250273
NM_000314.8(PTEN):c.499A>G (p.Thr167Ala)	SNV Germline	Chr10:87952124	Pathogenic	Cowden syndrome 1	Criteria Provided Single Submitter		rs_1210737543	1 SubmittersRCV002250274
NM_006363.6(SEC23B):c.367C>T (p.Arg123Ter)	SNV Germline	Chr20:18524433	Pathogenic	Congenital dyserythropoietic anemia, type II Cowden syndrome 7 Congenital dyserythropoietic anemia, type II	Criteria Provided Multiple Submitters No Conflicts		rs_775380378	3 SubmittersRCV002250341 RCV002481053
NM_001382430.1(AKT1):c.1364-3C>T	SNV Germline	Chr14:104770423	Conflicting classifications of pathogenicity	not specified Cowden syndrome 6	Criteria Provided Conflicting Classifications		rs_113777945	2 SubmittersRCV002246925 RCV003101349
NM_003002.4(SDHD):c.242C>G (p.Pro81Arg)	SNV Germline	Chr11:112088939	Conflicting classifications of pathogenicity	Paraganglioma Carney-Stratakis syndrome Cowden syndrome 3 Pheochromocytoma Paragangliomas with sensorineural hearing loss	Criteria Provided Conflicting Classifications		rs_80338844	2 SubmittersRCV002251308 RCV003774738
NM_006363.6(SEC23B):c.53G>A (p.Arg18His)	SNV Germline	Chr20:18510888	Conflicting classifications of pathogenicity	Condition: not provided Congenital dyserythropoietic anemia, type II Cowden syndrome 7 not specified Congenital dyserythropoietic anemia, type II	Criteria Provided Conflicting Classifications		rs_905074313	4 SubmittersRCV002276098 RCV003101567 RCV004526922 RCV004785559
NM_006218.4(PIK3CA):c.344G>T (p.Arg115Leu)	SNV Germline/somatic	Chr3:179199169	Conflicting classifications of pathogenicity	Condition: not provided Cowden syndrome PIK3CA related overgrowth syndrome	Criteria Provided Conflicting Classifications			3 SubmittersRCV002280087 RCV003096320 RCV003458242
NM_000314.8(PTEN):c.422A>T (p.His141Leu)	SNV Germline	Chr10:87933181	Likely pathogenic	Macrocephaly-autism syndrome Cowden syndrome 1 PTEN hamartoma tumor syndrome	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV002287192 RCV003097716
NM_000314.8(PTEN):c.228T>A (p.Tyr76Ter)	SNV Germline	Chr10:87931064	Pathogenic	Condition: not provided Cowden syndrome 1	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV002306033 RCV003454095
NM_000314.8(PTEN):c.372T>G (p.Cys124Trp)	SNV Germline	Chr10:87933131	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Cowden syndrome 1 Prostate cancer, hereditary, 1	Criteria Provided Multiple Submitters No Conflicts			3 SubmittersRCV002353055 RCV003454133 RCV003483887
NM_006218.4(PIK3CA):c.788A>G (p.Glu263Gly)	SNV Germline	Chr3:179201515	Conflicting classifications of pathogenicity	Inborn genetic diseases Cowden syndrome	Criteria Provided Conflicting Classifications			2 SubmittersRCV002416574 RCV003120964
NM_000314.8(PTEN):c.675T>A (p.Tyr225Ter)	SNV Germline	Chr10:87957893	Pathogenic	Hereditary cancer-predisposing syndrome Cowden syndrome 1	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV002369273 RCV003454183
NM_001382430.1(AKT1):c.1425G>A (p.Ser475=)	SNV Germline	Chr14:104770359	Conflicting classifications of pathogenicity	Inborn genetic diseases Cowden syndrome 6 AKT1-related disorder	Criteria Provided Conflicting Classifications			3 SubmittersRCV002391924 RCV003095143 RCV003418492
NM_000314.8(PTEN):c.1008C>A (p.Tyr336Ter)	SNV Germline	Chr10:87961100	Pathogenic	Hereditary cancer-predisposing syndrome Cowden syndrome 1	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV002457764 RCV003455465
NM_006363.6(SEC23B):c.640C>T (p.Gln214Ter)	SNV Germline	Chr20:18524971	Pathogenic	Congenital dyserythropoietic anemia, type II Condition: not provided Congenital dyserythropoietic anemia, type II Cowden syndrome 7	Criteria Provided Multiple Submitters No Conflicts			4 SubmittersRCV002470657 RCV003111576 RCV003775526
NM_006218.4(PIK3CA):c.2667-20G>A	SNV Germline	Chr3:179229984	Conflicting classifications of pathogenicity	Cowden syndrome Cowden syndrome 5	Criteria Provided Conflicting Classifications			2 SubmittersRCV003050868 RCV003134599
NM_000314.8(PTEN):c.540C>A (p.Tyr180Ter)	SNV Germline	Chr10:87952165	Pathogenic	PTEN hamartoma tumor syndrome Cowden syndrome 1	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003037350 RCV003455671
NM_000314.8(PTEN):c.853G>T (p.Glu285Ter)	SNV Germline	Chr10:87960945	Pathogenic	PTEN hamartoma tumor syndrome Cowden syndrome 1	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003058261 RCV003455672
NM_003002.4(SDHD):c.15G>A (p.Trp5Ter)	SNV Germline	Chr11:112086922	Pathogenic	Pheochromocytoma Carney-Stratakis syndrome Paragangliomas with sensorineural hearing loss Cowden syndrome 3	Criteria Provided Single Submitter			1 SubmittersRCV002601701
NM_006363.6(SEC23B):c.366+1G>A	SNV Germline	Chr20:18515737	Likely pathogenic	Congenital dyserythropoietic anemia, type II Cowden syndrome 7	Criteria Provided Single Submitter			1 SubmittersRCV002862093
NM_003002.4(SDHD):c.315-2A>T	SNV Germline	Chr11:112094803	Pathogenic/Likely pathogenic	Cowden syndrome 3 Pheochromocytoma Paragangliomas with sensorineural hearing loss Carney-Stratakis syndrome Mitochondrial complex 2 deficiency, nuclear type 3	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV002863222 RCV003475442
NM_003002.4(SDHD):c.53-7T>C	SNV Germline	Chr11:112087850	Conflicting classifications of pathogenicity	Pheochromocytoma Paragangliomas with sensorineural hearing loss Carney-Stratakis syndrome Cowden syndrome 3 Condition: not provided	Criteria Provided Conflicting Classifications			2 SubmittersRCV002933644 RCV004999836
NM_003002.4(SDHD):c.264C>A (p.Cys88Ter)	SNV Germline	Chr11:112088961	Pathogenic	Cowden syndrome 3 Carney-Stratakis syndrome Paragangliomas with sensorineural hearing loss Pheochromocytoma	Criteria Provided Single Submitter			1 SubmittersRCV002994598
NM_003002.4(SDHD):c.381G>T (p.Gly127=)	SNV Germline	Chr11:112094871	Conflicting classifications of pathogenicity	Pheochromocytoma Carney-Stratakis syndrome Cowden syndrome 3 Paragangliomas with sensorineural hearing loss Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications			3 SubmittersRCV003008997 RCV003170827 RCV004999848
NM_003002.4(SDHD):c.53-2A>C	SNV Germline	Chr11:112087855	Likely pathogenic	Cowden syndrome 3 Carney-Stratakis syndrome Paragangliomas with sensorineural hearing loss Pheochromocytoma	Criteria Provided Single Submitter			1 SubmittersRCV003005720
NM_000314.8(PTEN):c.688G>T (p.Gly230Ter)	SNV Germline	Chr10:87957906	Pathogenic	PTEN hamartoma tumor syndrome Cowden syndrome 1	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003052340 RCV003455670
NM_003002.4(SDHD):c.198G>A (p.Trp66Ter)	SNV Germline	Chr11:112088895	Pathogenic	Pheochromocytoma Carney-Stratakis syndrome Cowden syndrome 3 Paragangliomas with sensorineural hearing loss Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003777647 RCV004085101
NM_006363.6(SEC23B):c.221G>A (p.Cys74Tyr)	SNV Germline	Chr20:18511056	Conflicting classifications of pathogenicity	Condition: not provided Cowden syndrome 7 Congenital dyserythropoietic anemia, type II	Criteria Provided Conflicting Classifications			3 SubmittersRCV003136547 RCV003778787
NM_000314.8(PTEN):c.371G>C (p.Cys124Ser)	SNV Germline	Chr10:87933130	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Cowden syndrome 1 Glioma susceptibility 2	Criteria Provided Multiple Submitters No Conflicts			3 SubmittersRCV003165129 RCV003455770 RCV003459790
NM_000314.8(PTEN):c.332G>A (p.Trp111Ter)	SNV Germline/somatic	Chr10:87933091	Pathogenic	Hereditary cancer-predisposing syndrome PTEN hamartoma tumor syndrome Endometrial carcinoma Endometrial hyperplasia without atypia Atypical endometrial hyperplasia Cowden syndrome 1	Criteria Provided Multiple Submitters No Conflicts			4 SubmittersRCV003165130 RCV003330114 RCV003328128 RCV003455771
NM_003002.4(SDHD):c.125A>G (p.Glu42Gly)	SNV Germline	Chr11:112087929	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Pheochromocytoma Carney-Stratakis syndrome Cowden syndrome 3 Paragangliomas with sensorineural hearing loss	Criteria Provided Conflicting Classifications			2 SubmittersRCV003278396 RCV003777249
NM_000314.8(PTEN):c.661A>T (p.Lys221Ter)	SNV Germline	Chr10:87957879	Pathogenic	Cowden syndrome 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003319146 RCV004763647
NM_000314.8(PTEN):c.655C>T (p.Gln219Ter)	SNV Germline/somatic	Chr10:87957873	Pathogenic	PTEN hamartoma tumor syndrome Cowden syndrome 1 PTEN-related disorder Neoplasm	Criteria Provided Multiple Submitters No Conflicts			4 SubmittersRCV003509818 RCV003455815 RCV004531535 RCV004673881
NM_000314.8(PTEN):c.1026+2T>C	SNV Unknown	Chr10:87961120	Likely pathogenic	Cowden syndrome 1	Criteria Provided Single Submitter			1 SubmittersRCV003450510
NM_000314.8(PTEN):c.1026+2T>A	SNV Unknown	Chr10:87961120	Likely pathogenic	Cowden syndrome 1	Criteria Provided Single Submitter			1 SubmittersRCV003450518
NM_000314.8(PTEN):c.1027-1G>T	SNV Unknown	Chr10:87965286	Likely pathogenic	Cowden syndrome 1	Criteria Provided Single Submitter			1 SubmittersRCV003450531
NM_000314.8(PTEN):c.871G>T (p.Glu291Ter)	SNV Unknown	Chr10:87960963	Pathogenic	Cowden syndrome 1	Criteria Provided Single Submitter			1 SubmittersRCV003450536
NM_000314.8(PTEN):c.802-1G>C	SNV Germline	Chr10:87960893	Pathogenic	Cowden syndrome 1 PTEN hamartoma tumor syndrome	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003450537 RCV003619847
NM_000314.8(PTEN):c.1024A>T (p.Lys342Ter)	SNV Unknown	Chr10:87961116	Pathogenic	Cowden syndrome 1	Criteria Provided Single Submitter			1 SubmittersRCV003450543
NM_000314.8(PTEN):c.2T>G (p.Met1Arg)	SNV Unknown	Chr10:87864471	Likely pathogenic	Cowden syndrome 1	Criteria Provided Single Submitter			1 SubmittersRCV003452475
NM_000314.8(PTEN):c.377C>A (p.Ala126Asp)	SNV Unknown	Chr10:87933136	Likely pathogenic	Cowden syndrome 1	Criteria Provided Single Submitter			1 SubmittersRCV003452476
NM_000314.8(PTEN):c.379G>C (p.Gly127Arg)	SNV Unknown	Chr10:87933138	Likely pathogenic	Cowden syndrome 1	Criteria Provided Single Submitter			1 SubmittersRCV003452479
NM_000314.8(PTEN):c.362C>A (p.Ala121Glu)	SNV Unknown	Chr10:87933121	Likely pathogenic	Cowden syndrome 1	Criteria Provided Single Submitter			1 SubmittersRCV003452480
NM_000314.8(PTEN):c.335T>G (p.Leu112Arg)	SNV Unknown	Chr10:87933094	Pathogenic	Cowden syndrome 1	Criteria Provided Single Submitter			1 SubmittersRCV003452499
NM_000314.8(PTEN):c.264T>G (p.Tyr88Ter)	SNV Unknown	Chr10:87933023	Pathogenic	Cowden syndrome 1	Criteria Provided Single Submitter			1 SubmittersRCV003452504
NM_000314.8(PTEN):c.271G>T (p.Glu91Ter)	SNV Unknown	Chr10:87933030	Pathogenic	Cowden syndrome 1	Criteria Provided Single Submitter			1 SubmittersRCV003452508
NM_000314.8(PTEN):c.164+2T>A	SNV Unknown	Chr10:87894111	Pathogenic	Cowden syndrome 1	Criteria Provided Single Submitter			1 SubmittersRCV003452512
NM_000314.8(PTEN):c.31A>T (p.Arg11Ter)	SNV Unknown	Chr10:87864500	Pathogenic	Cowden syndrome 1	Criteria Provided Single Submitter			1 SubmittersRCV003452518
NM_000314.8(PTEN):c.340G>T (p.Glu114Ter)	SNV Unknown	Chr10:87933099	Pathogenic	Cowden syndrome 1	Criteria Provided Single Submitter			1 SubmittersRCV003452532
NM_000314.8(PTEN):c.724G>T (p.Glu242Ter)	SNV Unknown	Chr10:87957942	Pathogenic	Cowden syndrome 1	Criteria Provided Single Submitter			1 SubmittersRCV003452540
NM_000314.8(PTEN):c.490A>T (p.Lys164Ter)	SNV Germline	Chr10:87933249	Pathogenic	Cowden syndrome 1 Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003452543 RCV004943047
NM_000314.8(PTEN):c.686C>A (p.Ser229Ter)	SNV Unknown	Chr10:87957904	Pathogenic	Cowden syndrome 1	Criteria Provided Single Submitter			1 SubmittersRCV003452557
NM_000314.8(PTEN):c.419T>A (p.Leu140Ter)	SNV Unknown	Chr10:87933178	Pathogenic	Cowden syndrome 1	Criteria Provided Single Submitter			1 SubmittersRCV003452564
NM_000314.8(PTEN):c.121A>T (p.Arg41Ter)	SNV Unknown	Chr10:87894066	Pathogenic	Cowden syndrome 1	Criteria Provided Single Submitter			1 SubmittersRCV003452568
NM_000314.8(PTEN):c.720C>A (p.Tyr240Ter)	SNV Unknown	Chr10:87957938	Pathogenic	Cowden syndrome 1	Criteria Provided Single Submitter			1 SubmittersRCV003452570
NM_000314.8(PTEN):c.81T>A (p.Tyr27Ter)	SNV Unknown	Chr10:87894026	Pathogenic	Cowden syndrome 1	Criteria Provided Single Submitter			1 SubmittersRCV003452578
NM_006363.6(SEC23B):c.539G>A (p.Cys180Tyr)	SNV Germline	Chr20:18524605	Conflicting classifications of pathogenicity	Condition: not provided Cowden syndrome 7 Congenital dyserythropoietic anemia, type II	Criteria Provided Conflicting Classifications			2 SubmittersRCV003491455 RCV003779256
NM_006363.6(SEC23B):c.937C>T (p.Arg313Cys)	SNV Germline	Chr20:18526475	Conflicting classifications of pathogenicity	Condition: not provided Congenital dyserythropoietic anemia, type II Cowden syndrome 7	Criteria Provided Conflicting Classifications			2 SubmittersRCV003736478 RCV003779377
NM_006363.6(SEC23B):c.221+1G>A	SNV Germline	Chr20:18511057	Likely pathogenic	Congenital dyserythropoietic anemia, type II Cowden syndrome 7	Criteria Provided Single Submitter			1 SubmittersRCV003785574
NM_006363.6(SEC23B):c.568C>T (p.Arg190Ter)	SNV Germline	Chr20:18524634	Pathogenic	Cowden syndrome 7 Congenital dyserythropoietic anemia, type II See cases	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003783740 RCV004798059
NM_006363.6(SEC23B):c.938G>A (p.Arg313His)	SNV Germline	Chr20:18526476	Pathogenic	Cowden syndrome 7 Congenital dyserythropoietic anemia, type II	Criteria Provided Single Submitter			1 SubmittersRCV003783741
NM_006363.6(SEC23B):c.953T>C (p.Ile318Thr)	SNV Germline	Chr20:18526491	Pathogenic	Cowden syndrome 7 Congenital dyserythropoietic anemia, type II	Criteria Provided Single Submitter			1 SubmittersRCV003783742
NM_006363.6(SEC23B):c.1589G>A (p.Arg530Gln)	SNV Germline	Chr20:18543096	Likely pathogenic	Cowden syndrome 7 Congenital dyserythropoietic anemia, type II	Criteria Provided Single Submitter			1 SubmittersRCV003783744
NM_006363.6(SEC23B):c.2152C>T (p.Arg718Ter)	SNV Germline	Chr20:18555111	Pathogenic	Cowden syndrome 7 Congenital dyserythropoietic anemia, type II	Criteria Provided Single Submitter			1 SubmittersRCV003783746
NM_006363.6(SEC23B):c.1741C>T (p.Gln581Ter)	SNV Germline	Chr20:18546031	Pathogenic	Cowden syndrome 7 Congenital dyserythropoietic anemia, type II	Criteria Provided Single Submitter			1 SubmittersRCV003798019
NM_006363.6(SEC23B):c.1402C>T (p.Gln468Ter)	SNV Germline	Chr20:18535740	Pathogenic	Congenital dyserythropoietic anemia, type II Cowden syndrome 7	Criteria Provided Single Submitter			1 SubmittersRCV003782914
NM_006363.6(SEC23B):c.1015C>T (p.Arg339Ter)	SNV Germline	Chr20:18527517	Pathogenic	Cowden syndrome 7 Congenital dyserythropoietic anemia, type II	Criteria Provided Single Submitter			1 SubmittersRCV003780932
NM_003002.4(SDHD):c.2T>C (p.Met1Thr)	SNV Germline	Chr11:112086909	Pathogenic	Pheochromocytoma Carney-Stratakis syndrome Cowden syndrome 3 Paragangliomas with sensorineural hearing loss	Criteria Provided Single Submitter			1 SubmittersRCV003783589
NM_003002.4(SDHD):c.205G>T (p.Glu69Ter)	SNV Germline	Chr11:112088902	Pathogenic	Pheochromocytoma Carney-Stratakis syndrome Cowden syndrome 3 Paragangliomas with sensorineural hearing loss	Criteria Provided Single Submitter			1 SubmittersRCV003781386
NM_006363.6(SEC23B):c.762G>A (p.Trp254Ter)	SNV Germline	Chr20:18525860	Pathogenic	Cowden syndrome 7 Congenital dyserythropoietic anemia, type II	Criteria Provided Single Submitter			1 SubmittersRCV003789933
NM_006363.6(SEC23B):c.235C>T (p.Arg79Ter)	SNV Germline	Chr20:18512238	Pathogenic	Congenital dyserythropoietic anemia, type II Cowden syndrome 7	Criteria Provided Single Submitter			1 SubmittersRCV003780267
NM_006363.6(SEC23B):c.835-2A>G	SNV Germline	Chr20:18526371	Pathogenic	Congenital dyserythropoietic anemia, type II Cowden syndrome 7	Criteria Provided Single Submitter			1 SubmittersRCV003787891
NM_006363.6(SEC23B):c.689+1G>C	SNV Germline	Chr20:18525021	Pathogenic	Congenital dyserythropoietic anemia, type II Cowden syndrome 7	Criteria Provided Single Submitter			1 SubmittersRCV003788065
NM_006363.6(SEC23B):c.279+1G>A	SNV Germline	Chr20:18512283	Likely pathogenic	Cowden syndrome 7 Congenital dyserythropoietic anemia, type II	Criteria Provided Single Submitter			1 SubmittersRCV003793972
NM_006363.6(SEC23B):c.2212C>T (p.Gln738Ter)	SNV Germline	Chr20:18555171	Pathogenic	Cowden syndrome 7 Congenital dyserythropoietic anemia, type II	Criteria Provided Single Submitter			1 SubmittersRCV003794662
NM_006363.6(SEC23B):c.367-1G>T	SNV Germline	Chr20:18524432	Likely pathogenic	Cowden syndrome 7 Congenital dyserythropoietic anemia, type II	Criteria Provided Single Submitter			1 SubmittersRCV003806710
NM_006363.6(SEC23B):c.249G>A (p.Trp83Ter)	SNV Germline	Chr20:18512252	Pathogenic	Congenital dyserythropoietic anemia, type II Cowden syndrome 7	Criteria Provided Single Submitter			1 SubmittersRCV003799994
NM_006363.6(SEC23B):c.592A>T (p.Lys198Ter)	SNV Germline	Chr20:18524658	Pathogenic	Congenital dyserythropoietic anemia, type II Cowden syndrome 7	Criteria Provided Single Submitter			1 SubmittersRCV003805918
NM_003002.4(SDHD):c.132T>A (p.Cys44Ter)	SNV Germline	Chr11:112087936	Pathogenic	Pheochromocytoma Carney-Stratakis syndrome Cowden syndrome 3 Paragangliomas with sensorineural hearing loss	Criteria Provided Single Submitter			1 SubmittersRCV003804227
NM_006363.6(SEC23B):c.689+1G>T	SNV Germline	Chr20:18525021	Pathogenic	Cowden syndrome 7 Congenital dyserythropoietic anemia, type II	Criteria Provided Single Submitter			1 SubmittersRCV003794769
NM_006363.6(SEC23B):c.1314+1G>A	SNV Germline	Chr20:18532745	Likely pathogenic	Congenital dyserythropoietic anemia, type II Cowden syndrome 7	Criteria Provided Single Submitter			1 SubmittersRCV003800648
NM_006363.6(SEC23B):c.2202T>A (p.Tyr734Ter)	SNV Germline	Chr20:18555161	Pathogenic	Cowden syndrome 7 Congenital dyserythropoietic anemia, type II	Criteria Provided Single Submitter			1 SubmittersRCV003808831
NM_006363.6(SEC23B):c.221+163A>G	SNV Germline	Chr20:18511219	Conflicting classifications of pathogenicity	Cowden syndrome 7 Congenital dyserythropoietic anemia, type II not specified	Criteria Provided Conflicting Classifications			2 SubmittersRCV003801871 RCV004587563
NM_006363.6(SEC23B):c.1109+1G>C	SNV Germline	Chr20:18527612	Likely pathogenic	Cowden syndrome 7 Congenital dyserythropoietic anemia, type II	Criteria Provided Single Submitter			1 SubmittersRCV003802284
NM_006363.6(SEC23B):c.1660C>T (p.Arg554Ter)	SNV Germline	Chr20:18543167	Pathogenic	Cowden syndrome 7 Congenital dyserythropoietic anemia, type II	Criteria Provided Single Submitter			1 SubmittersRCV003809999
NM_003002.4(SDHD):c.170-2A>G	SNV Germline	Chr11:112088865	Pathogenic/Likely pathogenic	Pheochromocytoma Carney-Stratakis syndrome Cowden syndrome 3 Paragangliomas with sensorineural hearing loss Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003807334 RCV004950702
NM_006363.6(SEC23B):c.1905+1G>A	SNV Germline	Chr20:18548771	Likely pathogenic	Cowden syndrome 7 Congenital dyserythropoietic anemia, type II	Criteria Provided Single Submitter			1 SubmittersRCV003818120
NM_000314.8(PTEN):c.1A>T (p.Met1Leu)	SNV Unknown	Chr10:87864470	Likely pathogenic	Cowden syndrome 1	Criteria Provided Single Submitter			1 SubmittersRCV004442426
NM_000314.8(PTEN):c.764T>G (p.Val255Gly)	SNV Germline	Chr10:87957982	Likely pathogenic	Familial prostate cancer Macrocephaly-autism syndrome Familial meningioma Cowden syndrome 1 Glioma susceptibility 2	Criteria Provided Single Submitter			1 SubmittersRCV004797022

NM_006363.6(SEC23B):c.325G>A (p.Glu109Lys)

SNV
Germline

Chr20:18515695

Pathogenic

Congenital dyserythropoietic anemia, type II
Condition: not provided
Cowden syndrome 7
Congenital dyserythropoietic anemia, type II
SEC23B-related disorder
See cases

Criteria Provided
Multiple Submitters
No Conflicts

CA114843

rs_121918221

16 SubmittersRCV000001281 RCV000081407 RCV000688348 RCV004547453 RCV004797746

NM_006363.6(SEC23B):c.40C>T (p.Arg14Trp)

SNV
Germline

Chr20:18510875

Pathogenic/Likely pathogenic

Congenital dyserythropoietic anemia, type II
Condition: not provided
Cowden syndrome 7
Congenital dyserythropoietic anemia, type II
SEC23B-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA114846

rs_121918222

15 SubmittersRCV000001282 RCV000153924 RCV000688744 RCV004724725

NM_006363.6(SEC23B):c.1588C>T (p.Arg530Trp)

SNV
Germline

Chr20:18543095

Conflicting classifications of pathogenicity

Congenital dyserythropoietic anemia, type II
Condition: not provided
Cowden syndrome 7
Congenital dyserythropoietic anemia, type II

Criteria Provided
Conflicting Classifications

CA114849

rs_121918223

4 SubmittersRCV000001283 RCV003480015 RCV003764507

NM_006363.6(SEC23B):c.790C>T (p.Arg264Ter)

SNV
Germline

Chr20:18525888

Pathogenic

Congenital dyserythropoietic anemia, type II
Condition: not provided
Cowden syndrome 7
Congenital dyserythropoietic anemia, type II

Criteria Provided
Multiple Submitters
No Conflicts

CA114851

rs_121918224

3 SubmittersRCV000001284 RCV001092534 RCV001384733

NM_006363.6(SEC23B):c.970C>T (p.Arg324Ter)

SNV
Germline

Chr20:18526508

Pathogenic

Congenital dyserythropoietic anemia, type II
Cowden syndrome 7
Congenital dyserythropoietic anemia, type II
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA114853

rs_121918225

5 SubmittersRCV000001285 RCV002512638 RCV003137483

NM_006363.6(SEC23B):c.649C>T (p.Arg217Ter)

SNV
Germline

Chr20:18524980

Pathogenic/Likely pathogenic

Congenital dyserythropoietic anemia, type II
Condition: not provided
Cowden syndrome 7
Congenital dyserythropoietic anemia, type II

Criteria Provided
Multiple Submitters
No Conflicts

CA114855

rs_121918226

6 SubmittersRCV000001286 RCV000153926 RCV002496226

NM_003002.4(SDHD):c.106C>T (p.Gln36Ter)

SNV
Germline

Chr11:112087910

Pathogenic

Paragangliomas 1
Hereditary cancer-predisposing syndrome
Pheochromocytoma
Paragangliomas with sensorineural hearing loss
Carney-Stratakis syndrome
Cowden syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

CA016759

rs_104894303

4 SubmittersRCV000007295 RCV000492417 RCV001851718

NM_003002.4(SDHD):c.112C>T (p.Arg38Ter)

SNV
Germline

Chr11:112087916

Pathogenic

Paragangliomas 1
Hereditary pheochromocytoma-paraganglioma
Condition: not provided
Hereditary cancer-predisposing syndrome
Pheochromocytoma
Carney-Stratakis syndrome
Cowden syndrome 3
Paragangliomas with sensorineural hearing loss

Criteria Provided
Multiple Submitters
No Conflicts

CA016789

rs_80338843

12 SubmittersRCV000007296 RCV000020518 RCV000486967 RCV000492087 RCV002228000

NM_003002.4(SDHD):c.34G>A (p.Gly12Ser)

SNV
Germline

Chr11:112086941

Conflicting classifications of pathogenicity

Cowden syndrome 3
Paragangliomas 1
Pheochromocytoma
Condition: not provided
not specified
Hereditary cancer-predisposing syndrome
Carney-Stratakis syndrome
Mitochondrial complex 2 deficiency, nuclear type 3
Pheochromocytoma
Carney-Stratakis syndrome
Cowden syndrome 3
Paragangliomas with sensorineural hearing loss

Criteria Provided
Conflicting Classifications

CA016980

rs_34677591

26 SubmittersRCV000007299 RCV000007300 RCV000007302 RCV000034697 RCV000122006 RCV000162470 RCV000988742 RCV001807000 RCV002228001

NM_003002.4(SDHD):c.242C>T (p.Pro81Leu)

SNV
Germline/somatic

Chr11:112088939

Pathogenic/Likely pathogenic

Paragangliomas 1
Pheochromocytoma
Hereditary pheochromocytoma-paraganglioma
Hereditary cancer-predisposing syndrome
Condition: not provided
Pheochromocytoma
Paragangliomas 1
Carney-Stratakis syndrome
Mitochondrial complex II deficiency, nuclear type 1
Mitochondrial complex II deficiency, nuclear type 1
Pheochromocytoma
Paragangliomas with sensorineural hearing loss
Carney-Stratakis syndrome
Cowden syndrome 3
Mitochondrial complex 2 deficiency, nuclear type 3
SDHD-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA016688

rs_80338844

25 SubmittersRCV000007303 RCV000007304 RCV000020519 RCV000162448 RCV000216073 RCV000763227 RCV002221470 RCV002228002 RCV003472995 RCV004748507

NM_003002.4(SDHD):c.274G>T (p.Asp92Tyr)

SNV
Germline

Chr11:112088971

Pathogenic/Likely pathogenic

Paragangliomas 1
Hereditary pheochromocytoma-paraganglioma
Hereditary cancer-predisposing syndrome
Condition: not provided
Paragangliomas 4
Pheochromocytoma
Paragangliomas with sensorineural hearing loss
Carney-Stratakis syndrome
Cowden syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

CA016702

rs_80338845

8 SubmittersRCV000007305 RCV000020520 RCV000567104 RCV001701480 RCV002288471 RCV002512869

NM_003002.4(SDHD):c.305A>T (p.His102Leu)

SNV
Germline

Chr11:112089002

Pathogenic

Paragangliomas 1
Hereditary cancer-predisposing syndrome
Pheochromocytoma
Paragangliomas with sensorineural hearing loss
Carney-Stratakis syndrome
Cowden syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

CA016665

rs_104894302

3 SubmittersRCV000007307 RCV000566289 RCV002228003

NM_003002.4(SDHD):c.341A>G (p.Tyr114Cys)

SNV
Germline

Chr11:112094831

Pathogenic

Paragangliomas 1
Hereditary pheochromocytoma-paraganglioma
Hereditary cancer-predisposing syndrome
Condition: not provided
Pheochromocytoma
Paragangliomas with sensorineural hearing loss
Carney-Stratakis syndrome
Cowden syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

CA016797

rs_104894304

9 SubmittersRCV000007309 RCV000155750 RCV000221353 RCV001810833 RCV002228004

NM_003002.4(SDHD):c.95C>A (p.Ser32Ter)

SNV
Germline

Chr11:112087899

Pathogenic

Paragangliomas 1
Hereditary pheochromocytoma-paraganglioma
Pheochromocytoma
Paragangliomas with sensorineural hearing loss
Carney-Stratakis syndrome
Cowden syndrome 3
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA016746

rs_104894305

7 SubmittersRCV000007310 RCV000505384 RCV002228005 RCV002381243 RCV004791197

NM_003002.4(SDHD):c.64C>T (p.Arg22Ter)

SNV
Germline

Chr11:112087868

Pathogenic

Paragangliomas 1
Pheochromocytoma
Hereditary cancer-predisposing syndrome
Condition: not provided
Pheochromocytoma
Paragangliomas with sensorineural hearing loss
Carney-Stratakis syndrome
Cowden syndrome 3
Hereditary pheochromocytoma-paraganglioma

Criteria Provided
Multiple Submitters
No Conflicts

CA016739

rs_104894306

7 SubmittersRCV000007312 RCV000193132 RCV000492341 RCV000657641 RCV002228006 RCV004802924

NM_003002.4(SDHD):c.3G>C (p.Met1Ile)

SNV
Germline

Chr11:112086910

Pathogenic

Paragangliomas 1
Hereditary pheochromocytoma-paraganglioma
Hereditary cancer-predisposing syndrome
Pheochromocytoma
Paragangliomas with sensorineural hearing loss
Carney-Stratakis syndrome
Cowden syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

CA016987

rs_80338842

5 SubmittersRCV000007315 RCV000020522 RCV000492533 RCV002228007

NM_003002.4(SDHD):c.1A>G (p.Met1Val)

SNV
Germline

Chr11:112086908

Pathogenic

Pheochromocytoma
Paragangliomas with sensorineural hearing loss
Carney-Stratakis syndrome
Cowden syndrome 3
Paragangliomas 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA016859

rs_104894307

3 SubmittersRCV002228010 RCV004018582 RCV004948132

NM_003002.4(SDHD):c.129G>A (p.Trp43Ter)

SNV
Germline

Chr11:112087933

Pathogenic

Paragangliomas 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Pheochromocytoma
Paragangliomas with sensorineural hearing loss
Carney-Stratakis syndrome
Cowden syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

CA016785

rs_104894308

5 SubmittersRCV000007322 RCV000222413 RCV000756632 RCV002512871

NM_003002.4(SDHD):c.33C>A (p.Cys11Ter)

SNV
Germline

Chr11:112086940

Pathogenic

Pheochromocytoma
Hereditary cancer-predisposing syndrome
Pheochromocytoma
Paragangliomas with sensorineural hearing loss
Carney-Stratakis syndrome
Cowden syndrome 3
Paragangliomas 1

Criteria Provided
Multiple Submitters
No Conflicts

CA016967

rs_104894309

7 SubmittersRCV000007324 RCV000221327 RCV002228012 RCV002288472

NM_003002.4(SDHD):c.14G>A (p.Trp5Ter)

SNV
Germline

Chr11:112086921

Pathogenic

Pheochromocytoma
Paragangliomas with sensorineural hearing loss
Carney-Stratakis syndrome
Cowden syndrome 3
Hereditary cancer-predisposing syndrome
Paragangliomas 1

Criteria Provided
Multiple Submitters
No Conflicts

CA016834

rs_104894310

3 SubmittersRCV001851719 RCV004018584 RCV004018583

NM_000314.8(PTEN):c.386G>A (p.Gly129Glu)

SNV
Germline/somatic

Chr10:87933145

Pathogenic/Likely pathogenic

Cowden syndrome 1
PTEN hamartoma tumor syndrome
Hereditary cancer-predisposing syndrome
Malignant tumor of urinary bladder
Condition: not provided
Neoplasm

Criteria Provided
Multiple Submitters
No Conflicts

CA000431

rs_121909218

8 SubmittersRCV000008255 RCV000490577 RCV001021326 RCV003332076 RCV000413815 RCV004668707

NM_000314.8(PTEN):c.697C>T (p.Arg233Ter)

SNV
Germline/somatic

Chr10:87957915

Pathogenic/Likely pathogenic

Cowden syndrome 1
PTEN hamartoma tumor syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Macrocephaly-autism syndrome
Cowden syndrome
Ovarian neoplasm
Abnormal cardiovascular system morphology
Gastric cancer
Glioma susceptibility 2
PTEN-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA000549

rs_121909219

30 SubmittersRCV000008256 RCV000128455 RCV000162649 RCV000212882 RCV000477737 RCV000678740 RCV000785383 RCV001327980 RCV003162216 RCV003466836 RCV004532309

NM_000314.8(PTEN):c.469G>T (p.Glu157Ter)

SNV
Germline

Chr10:87933228

Pathogenic

Lhermitte-Duclos disease
PTEN hamartoma tumor syndrome
Hereditary cancer-predisposing syndrome
Cowden syndrome 1

Reviewed By Expert Panel

CA000467

rs_121909220

5 SubmittersRCV000008258 RCV000735259 RCV002336078 RCV003450618

NM_000314.8(PTEN):c.510T>A (p.Ser170Arg)

SNV
Germline

Chr10:87952135

Pathogenic

Cowden syndrome 1
PTEN hamartoma tumor syndrome

Reviewed By Expert Panel

CA000492

rs_121909221

2 SubmittersRCV000008259 RCV000735267

NM_000314.8(PTEN):c.368A>G (p.His123Arg)

SNV
Germline

Chr10:87933127

Pathogenic

Cowden syndrome 1
Condition: not provided
PTEN hamartoma tumor syndrome
PTEN-related disorder

Reviewed By Expert Panel

CA000418

rs_121909222

6 SubmittersRCV000008260 RCV000518927 RCV000735264 RCV004528091

NM_000314.8(PTEN):c.370T>C (p.Cys124Arg)

SNV
Germline

Chr10:87933129

Pathogenic

Cowden syndrome 1
Condition: not provided
PTEN hamartoma tumor syndrome
Hereditary cancer-predisposing syndrome
Gastric cancer

Reviewed By Expert Panel

CA000422

rs_121909223

7 SubmittersRCV000008261 RCV000485809 RCV000700581 RCV001020947 RCV003162217

NM_000314.8(PTEN):c.388C>T (p.Arg130Ter)

SNV
Germline/somatic

Chr10:87933147

Pathogenic

Macrocephaly-autism syndrome
Cowden syndrome 1
Condition: not provided
PTEN hamartoma tumor syndrome
Hereditary cancer-predisposing syndrome
Ovarian neoplasm
Rhabdomyosarcoma
Abnormal cardiovascular system morphology
Glioma susceptibility 2
Familial meningioma
Malignant tumor of prostate
Glioma susceptibility 2
Cowden syndrome 1
Macrocephaly-autism syndrome
Gastric cancer
Cowden syndrome 1
Macrocephaly-autism syndrome
PTEN-related disorder
Neoplasm

Criteria Provided
Multiple Submitters
No Conflicts

CA000433

rs_121909224

42 SubmittersRCV000008265 RCV000008263 RCV000078615 RCV000199099 RCV000132187 RCV000424529 RCV001257555 RCV001327978 RCV001542771 RCV002476944 RCV003162218 RCV003326115 RCV004532310 RCV004668708

NM_000314.8(PTEN):c.253+1G>A

SNV
Germline/somatic

Chr10:87931090

Pathogenic

Endometrial carcinoma
Condition: not provided
PTEN hamartoma tumor syndrome
Cowden syndrome 1
Hereditary cancer-predisposing syndrome
Neoplasm
Glioma susceptibility 2

Criteria Provided
Multiple Submitters
No Conflicts

CA000362

rs_587776667

9 SubmittersRCV000008266 RCV000433259 RCV000529512 RCV000516042 RCV001015856 RCV004668709 RCV003460435

NM_000314.8(PTEN):c.492+2T>G

SNV
Germline

Chr10:87933253

Pathogenic

Cowden syndrome 1
PTEN hamartoma tumor syndrome
Condition: not provided

Reviewed By Expert Panel

CA000475

rs_1554898244

5 SubmittersRCV000008267 RCV000790897 RCV002510769

NM_000314.8(PTEN):c.104T>G (p.Met35Arg)

SNV
Germline

Chr10:87894049

Pathogenic

Cowden syndrome 1
PTEN hamartoma tumor syndrome

Reviewed By Expert Panel

CA000268

rs_121909225

4 SubmittersRCV000008271 RCV000790896

NM_000314.8(PTEN):c.209T>C (p.Leu70Pro)

SNV
Germline

Chr10:87925557

Likely pathogenic

Cowden syndrome 1
PTEN hamartoma tumor syndrome
Hereditary cancer-predisposing syndrome
Malignant tumor of prostate
Glioma susceptibility 2
Cowden syndrome 1
Familial meningioma
Macrocephaly-autism syndrome

Reviewed By Expert Panel

CA000350

rs_121909226

4 SubmittersRCV000008272 RCV000758229 RCV004018588 RCV002496305

NM_000314.8(PTEN):c.640C>T (p.Gln214Ter)

SNV
Germline

Chr10:87957858

Pathogenic

Cowden syndrome 1
Macrocephaly-autism syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
PTEN hamartoma tumor syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA000538

rs_121909227

6 SubmittersRCV000008273 RCV000416592 RCV000657583 RCV001025234 RCV001204841

NM_000314.8(PTEN):c.766G>T (p.Glu256Ter)

SNV
Germline

Chr10:87957984

Pathogenic

Cowden syndrome 1
PTEN hamartoma tumor syndrome

Reviewed By Expert Panel

CA000569

rs_121909228

2 SubmittersRCV000008274 RCV000735265

NM_000314.8(PTEN):c.389G>A (p.Arg130Gln)

SNV
Germline/somatic

Chr10:87933148

Pathogenic

Cowden syndrome 1
Hereditary cancer-predisposing syndrome
PTEN hamartoma tumor syndrome
Cowden syndrome
Condition: not provided
PTEN-related disorder
Ovarian neoplasm

Reviewed By Expert Panel

CA000437

rs_121909229

19 SubmittersRCV000008275 RCV000131067 RCV000178761 RCV002228017 RCV000212880 RCV004734504 RCV000427853

NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter)

SNV
Germline/somatic

Chr10:87961095

Pathogenic

Proteus-like syndrome
Condition: not provided
Cowden syndrome 1
Hereditary cancer-predisposing syndrome
PTEN hamartoma tumor syndrome
Macrocephaly-autism syndrome
PTEN-related disorder
Cowden syndrome 1
Macrocephaly-autism syndrome
Ovarian neoplasm
Cowden syndrome
Cowden syndrome
Macrocephaly-autism syndrome
Abnormality of the nervous system
Familial meningioma
Malignant tumor of prostate
Glioma susceptibility 2
Cowden syndrome 1
Macrocephaly-autism syndrome
Familial cancer of breast
Neoplasm

Criteria Provided
Multiple Submitters
No Conflicts

CA000245

rs_121909231

36 SubmittersRCV000008281 RCV000078601 RCV000033179 RCV000162409 RCV000197423 RCV000414819 RCV000677405 RCV000679881 RCV000785564 RCV001174674 RCV001824562 RCV001813965 RCV002476945 RCV002272011 RCV004668710

NM_000314.8(PTEN):c.633C>A (p.Cys211Ter)

SNV
Germline/somatic

Chr10:87952258

Pathogenic

Melanoma
Cowden syndrome 1
Hereditary cancer-predisposing syndrome
PTEN hamartoma tumor syndrome
Condition: not provided
PTEN-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA000536

rs_121909232

11 SubmittersRCV000008284 RCV000409569 RCV000490942 RCV000820375 RCV001269918 RCV004528092

NM_000314.8(PTEN):c.278A>G (p.His93Arg)

SNV
Germline

Chr10:87933037

Pathogenic

Macrocephaly-autism syndrome
PTEN hamartoma tumor syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Cowden syndrome 1

Reviewed By Expert Panel

CA000381

rs_121909238

8 SubmittersRCV000008298 RCV000645075 RCV002433447 RCV003137501 RCV003450619

NM_000314.8(PTEN):c.755A>G (p.Asp252Gly)

SNV
Germline

Chr10:87957973

Pathogenic

Macrocephaly-autism syndrome
PTEN hamartoma tumor syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Cowden syndrome 1
Glioma susceptibility 2

Reviewed By Expert Panel

CA000564

rs_121909239

8 SubmittersRCV000008299 RCV000758222 RCV001775539 RCV002390096 RCV003450620 RCV003460437

NM_000314.8(PTEN):c.395G>T (p.Gly132Val)

SNV
Germline

Chr10:87933154

Pathogenic/Likely pathogenic

PTEN hamartoma tumor syndrome
Cowden syndrome 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Glioma susceptibility 2
PTEN-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA000446

rs_121909241

8 SubmittersRCV000008302 RCV000656691 RCV000221956 RCV000489810 RCV003460438 RCV004532311

NM_003000.3(SDHB):c.487T>C (p.Ser163Pro)

SNV
Germline

Chr1:17027802

Conflicting classifications of pathogenicity

Cowden syndrome
Condition: not provided
not specified
Hereditary cancer-predisposing syndrome
Paragangliomas 4
Pheochromocytoma
Paragangliomas 4
Gastrointestinal stromal tumor
Hereditary pheochromocytoma-paraganglioma
Gastrointestinal stromal tumor
Carney-Stratakis syndrome
Malignant tumor of breast

Criteria Provided
Conflicting Classifications

CA015910

rs_33927012

29 SubmittersRCV000013633 RCV000034688 RCV000122002 RCV000132153 RCV000202946 RCV000206861 RCV000282667 RCV000986263 RCV001099292 RCV001269360

NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu)

SNV
Germline/somatic

Chr3:179234297

Pathogenic

Breast adenocarcinoma
CLOVES syndrome
PIK3CA related overgrowth syndrome
Macrodactyly of toe
Stroke disorder
Cowden syndrome 1
CLAPO syndrome
Megalencephaly-capillary malformation-polymicrogyria syndrome
Ovarian neoplasm
CEREBRAL CAVERNOUS MALFORMATIONS 4, SOMATIC
Condition: not provided
Hemihypertrophy
Cavernous lymphangioma
Neoplasm
Colorectal cancer
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA123328

rs_121913279

13 SubmittersRCV000014629 RCV000032905 RCV000201235 RCV000626894 RCV000987367 RCV000709692 RCV001253236 RCV000422323 RCV001728092 RCV002254265 RCV001526597 RCV004527292 RCV004668728 RCV001807728 RCV004649064

NM_001382430.1(AKT1):c.49G>A (p.Glu17Lys)

SNV
Germline/somatic

Chr14:104780214

Pathogenic

Breast adenocarcinoma
Carcinoma of colon
Ovarian neoplasm
Proteus syndrome
Condition: not provided
Neoplasm
Cowden syndrome 6

Criteria Provided
Multiple Submitters
No Conflicts

CA123660

rs_121434592

6 SubmittersRCV000015017 RCV000015018 RCV000015019 RCV000031926 RCV001813745 RCV004668732 RCV000795313

NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys)

SNV
Germline/somatic

Chr3:179218294

Pathogenic

CLOVES syndrome
Ovarian neoplasm
Non-small cell lung carcinoma
Condition: not provided
CEREBRAL CAVERNOUS MALFORMATIONS 4, SOMATIC
Abnormal cardiovascular system morphology
Cowden syndrome
HEMIFACIAL MYOHYPERPLASIA, SOMATIC
CLAPO syndrome
PIK3CA-related overgrowth
PIK3CA-related disorder
Megalencephaly-capillary malformation-polymicrogyria syndrome
Lip and oral cavity carcinoma
Cerebrofacial Vascular Metameric Syndrome (CVMS)
Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
Rare venous malformation
PIK3CA related overgrowth syndrome
Neoplasm

Reviewed By Expert Panel

CA333572

rs_121913273

18 SubmittersRCV000024622 RCV000151649 RCV000154513 RCV000416776 RCV001728093 RCV001327962 RCV002513230 RCV003764635 RCV000709693 RCV003987334 RCV004532404 RCV004698785 RCV001255687 RCV001730477 RCV001836714 RCV004527296 RCV003458190 RCV004668742

NM_006218.4(PIK3CA):c.1258T>C (p.Cys420Arg)

SNV
Germline/somatic

Chr3:179210192

Pathogenic

CLOVES syndrome
CLAPO syndrome
Ovarian neoplasm
PIK3CA related overgrowth syndrome
Rare combined vascular malformation
Cowden syndrome
Segmental undergrowth associated with lymphatic malformation
Condition: not provided
Abnormal cardiovascular system morphology
Capillary malformation
Neoplasm

Criteria Provided
Multiple Submitters
No Conflicts

CA180900

rs_121913272

15 SubmittersRCV000024623 RCV000709694 RCV000154512 RCV000201232 RCV004527297 RCV003588566 RCV001705599 RCV002054475 RCV001327960 RCV001526612 RCV004668743

NM_006218.4(PIK3CA):c.2740G>A (p.Gly914Arg)

SNV
Germline/somatic

Chr3:179230077

Pathogenic

Megalencephaly-capillary malformation-polymicrogyria syndrome
Condition: not provided
Abnormal cardiovascular system morphology
Cowden syndrome 5
Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
Cowden syndrome
Angioosteohypertrophic syndrome
Abnormal cerebral morphology
PIK3CA related overgrowth syndrome
CLOVES syndrome
PIK3CA-related disorder
Inborn genetic diseases

Reviewed By Expert Panel

CA130467

rs_587776932

19 SubmittersRCV000032907 RCV000414672 RCV001327966 RCV001594376 RCV001836717 RCV001852661 RCV002254272 RCV002274888 RCV003233078 RCV004798751 RCV004737167 RCV004955261

NM_006218.4(PIK3CA):c.1133G>A (p.Cys378Tyr)

SNV
Germline/somatic

Chr3:179204576

Pathogenic

Megalencephaly-capillary malformation-polymicrogyria syndrome
PIK3CA related overgrowth syndrome
Cowden syndrome
PIK3CA-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA130469

rs_397514565

7 SubmittersRCV000032908 RCV000201233 RCV000806643 RCV004532477

NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr)

SNV
Germline/somatic

Chr3:179234296

Pathogenic

Megalencephaly-capillary malformation-polymicrogyria syndrome
Non-small cell lung carcinoma
Cowden syndrome
13 conditions
Condition: not provided
Segmental undergrowth associated with mainly venous malformation with capillary component
CLOVES syndrome
PIK3CA related overgrowth syndrome
HEMIFACIAL MYOHYPERPLASIA, SOMATIC
PIK3CA overgrowth syndrome
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA130471

rs_121913281

13 SubmittersRCV000032909 RCV000038675 RCV000698423 RCV000763508 RCV001092441 RCV001705625 RCV002226661 RCV003233079 RCV003882732 RCV004698336 RCV004955262

NM_001382430.1(AKT1):c.73C>T (p.Arg25Cys)

SNV
Germline

Chr14:104780190

Pathogenic

Cowden syndrome 6

No Assertion Criteria Provided

CA130749

rs_397514644

1 SubmittersRCV000033177

NM_001382430.1(AKT1):c.1303A>C (p.Thr435Pro)

SNV
Germline

Chr14:104770805

Pathogenic

Cowden syndrome 6

No Assertion Criteria Provided

CA130755

rs_397514645

1 SubmittersRCV000033178

NM_000314.8(PTEN):c.202T>A (p.Tyr68Asn)

SNV
Germline

Chr10:87925550

Conflicting classifications of pathogenicity

Condition: not provided
Cowden syndrome 1
PTEN hamartoma tumor syndrome

Criteria Provided
Conflicting Classifications

CA000340

rs_398123317

3 SubmittersRCV000078608 RCV003453006 RCV003509489

NM_000314.8(PTEN):c.331T>C (p.Trp111Arg)

SNV
Germline

Chr10:87933090

Likely pathogenic

Condition: not provided
PTEN hamartoma tumor syndrome
Cowden syndrome 1
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA000401

rs_398123321

6 SubmittersRCV000078613 RCV000758231 RCV001807780 RCV002321573

NM_000314.8(PTEN):c.395G>A (p.Gly132Asp)

SNV
Germline/somatic

Chr10:87933154

Pathogenic

Condition: not provided
PTEN hamartoma tumor syndrome
Hereditary cancer-predisposing syndrome
Cowden syndrome 1
Glioma susceptibility 2

Reviewed By Expert Panel

CA000444

rs_121909241

13 SubmittersRCV000078616 RCV000544638 RCV001021527 RCV001808308 RCV004566945

NM_006363.6(SEC23B):c.1571C>T (p.Ala524Val)

SNV
Germline

Chr20:18543078

Pathogenic/Likely pathogenic

Congenital dyserythropoietic anemia, type II
Congenital dyserythropoietic anemia, type II
Cowden syndrome 7
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA222937

rs_398124225

4 SubmittersRCV001843475 RCV003764767 RCV000081403

NM_006363.6(SEC23B):c.689+1G>A

SNV
Germline

Chr20:18525021

Pathogenic

Condition: not provided
Congenital dyserythropoietic anemia, type II
Cowden syndrome 7
Congenital dyserythropoietic anemia, type II
Cowden syndrome 7

Criteria Provided
Multiple Submitters
No Conflicts

CA222943

rs_398124226

5 SubmittersRCV000081409 RCV000689848 RCV001195899 RCV002288579

NM_001382430.1(AKT1):c.138C>A (p.Asp46Glu)

SNV
Germline

Chr14:104780125

Conflicting classifications of pathogenicity

not specified
Cowden syndrome 6
Condition: not provided
Hereditary cancer
AKT1-related disorder

Criteria Provided
Conflicting Classifications

CA156577

rs_146875699

6 SubmittersRCV000119959 RCV000231031 RCV002305447 RCV003492516 RCV003965004

NM_003002.4(SDHD):c.101T>G (p.Phe34Cys)

SNV
Germline

Chr11:112087905

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Cowden syndrome 3
Pheochromocytoma
Paragangliomas with sensorineural hearing loss
Carney-Stratakis syndrome
Paragangliomas 1
Hereditary pheochromocytoma-paraganglioma
SDHD-related disorder

Criteria Provided
Conflicting Classifications

CA016754

rs_141802836

7 SubmittersRCV000122008 RCV000569765 RCV001545828 RCV002228410 RCV003230259 RCV003997358 RCV004748588

NM_003002.4(SDHD):c.278A>G (p.Tyr93Cys)

SNV
Germline

Chr11:112088975

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Paragangliomas with sensorineural hearing loss
Cowden syndrome 3
Pheochromocytoma
Carney-Stratakis syndrome
SDHD-related disorder
Mitochondrial complex 2 deficiency, nuclear type 3

Criteria Provided
Conflicting Classifications

CA016634

rs_142135772

10 SubmittersRCV000122009 RCV000130895 RCV001546458 RCV002228625 RCV003398736 RCV003474733

NM_003002.4(SDHD):c.255G>T (p.Leu85Phe)

SNV
Germline

Chr11:112088952

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Paragangliomas with sensorineural hearing loss
Cowden syndrome 3
Pheochromocytoma
Carney-Stratakis syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA016696

rs_199517389

4 SubmittersRCV000122010 RCV000568887 RCV002515893 RCV004998244

NM_000314.8(PTEN):c.379G>A (p.Gly127Arg)

SNV
Germline

Chr10:87933138

Likely pathogenic

PTEN hamartoma tumor syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Cowden syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA000426

rs_587781255

4 SubmittersRCV000128454 RCV000479167 RCV001021176 RCV003453057

NM_000314.8(PTEN):c.493-2A>G

SNV
Germline/somatic

Chr10:87952116

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Cowden syndrome 1
PTEN hamartoma tumor syndrome

Reviewed By Expert Panel

CA000478

rs_587781784

8 SubmittersRCV000130038 RCV000254682 RCV000515821 RCV000710293

NM_000314.8(PTEN):c.48T>A (p.Tyr16Ter)

SNV
Germline

Chr10:87864517

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
PTEN hamartoma tumor syndrome
Cowden syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA000471

rs_587782187

4 SubmittersRCV000130817 RCV000212878 RCV000477134 RCV003453078

NM_003002.4(SDHD):c.155C>A (p.Ser52Ter)

SNV
Germline

Chr11:112087959

Pathogenic

Hereditary cancer-predisposing syndrome
Paragangliomas with sensorineural hearing loss
Cowden syndrome 3
Carney-Stratakis syndrome
Pheochromocytoma

Criteria Provided
Multiple Submitters
No Conflicts

CA016773

rs_587782210

2 SubmittersRCV000130886 RCV002514740

NM_000314.8(PTEN):c.737C>T (p.Pro246Leu)

SNV
Germline

Chr10:87957955

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Cowden syndrome 1
Gastric cancer
Breast and/or ovarian cancer
PTEN hamartoma tumor syndrome

Reviewed By Expert Panel

CA000559

rs_587782350

17 SubmittersRCV000131292 RCV000212883 RCV000660237 RCV003162587 RCV001270998 RCV000613031

NM_000314.8(PTEN):c.403A>G (p.Ile135Val)

SNV
Germline/somatic

Chr10:87933162

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
PTEN hamartoma tumor syndrome
Ovarian neoplasm
Cowden syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA000448

rs_587782360

5 SubmittersRCV000131316 RCV000521053 RCV000645036 RCV000785581 RCV003453083

NM_000314.8(PTEN):c.802-2A>T

SNV
Germline

Chr10:87960892

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Cowden syndrome 1
PTEN hamartoma tumor syndrome
PTEN-related disorder

Reviewed By Expert Panel

CA000591

rs_587782455

10 SubmittersRCV000131528 RCV000212884 RCV000516134 RCV000710295 RCV004532571

NM_000314.8(PTEN):c.493G>T (p.Gly165Ter)

SNV
Germline

Chr10:87952118

Pathogenic

Hereditary cancer-predisposing syndrome
Cowden syndrome 1
PTEN hamartoma tumor syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA000480

rs_587782603

4 SubmittersRCV000131967 RCV003453088 RCV003509496 RCV001092597

NM_000314.8(PTEN):c.822G>A (p.Trp274Ter)

SNV
Germline

Chr10:87960914

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
PTEN hamartoma tumor syndrome
Cowden syndrome 1
PTEN-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA000599

rs_587782607

7 SubmittersRCV000131976 RCV000507265 RCV000697400 RCV002055846 RCV004528860

NM_003002.4(SDHD):c.205G>A (p.Glu69Lys)

SNV
Germline

Chr11:112088902

Conflicting classifications of pathogenicity

Mitochondrial complex 2 deficiency, nuclear type 3
Condition: not provided
Mitochondrial complex II deficiency, nuclear type 1
Paragangliomas with sensorineural hearing loss
Cowden syndrome 3
Carney-Stratakis syndrome
Pheochromocytoma
Hereditary cancer-predisposing syndrome
SDHD-related disorder

Criteria Provided
Conflicting Classifications

CA016681

rs_202198133

6 SubmittersRCV000144171 RCV000484125 RCV001290090 RCV002515941 RCV002415627 RCV004748597

NM_003002.4(SDHD):c.479G>T (p.Ter160Leu)

SNV
Germline

Chr11:112094969

Conflicting classifications of pathogenicity

Mitochondrial complex 2 deficiency, nuclear type 3
not specified
Hereditary pheochromocytoma-paraganglioma
Hereditary cancer-predisposing syndrome
Condition: not provided
Paragangliomas with sensorineural hearing loss
Cowden syndrome 3
Carney-Stratakis syndrome
Pheochromocytoma

Criteria Provided
Conflicting Classifications

CA016726

rs_201372601

9 SubmittersRCV000144172 RCV000454533 RCV000505355 RCV001023072 RCV000994727 RCV002228513

NM_006218.4(PIK3CA):c.353G>A (p.Gly118Asp)

SNV
Germline/somatic

Chr3:179199690

Pathogenic

Cowden syndrome 5
Keratoacanthoma
Condition: not provided
Angioosteohypertrophic syndrome
Cowden syndrome
PIK3CA related overgrowth syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA170883

rs_587777790

6 SubmittersRCV000144506 RCV001849317 RCV001726000 RCV002254279 RCV002512561 RCV004719712

NM_006218.4(PIK3CA):c.403G>A (p.Glu135Lys)

SNV
Germline

Chr3:179199740

Pathogenic

Cowden syndrome 5

No Assertion Criteria Provided

CA170885

rs_587777791

1 SubmittersRCV000144507

NM_006218.4(PIK3CA):c.652G>A (p.Glu218Lys)

SNV
Germline

Chr3:179201379

Pathogenic

Cowden syndrome 5

No Assertion Criteria Provided

CA170887

rs_587777792

1 SubmittersRCV000144508

NM_006218.4(PIK3CA):c.1066G>A (p.Val356Ile)

SNV
Germline

Chr3:179204509

Pathogenic

Cowden syndrome 5

No Assertion Criteria Provided

CA170889

rs_587777793

1 SubmittersRCV000144509

NM_006218.4(PIK3CA):c.1145G>A (p.Arg382Lys)

SNV
Germline

Chr3:179204588

Conflicting classifications of pathogenicity

Cowden syndrome 5
Condition: not provided

No Assertion Criteria Provided

CA170891

rs_587777794

2 SubmittersRCV000144510 RCV000782194

NM_006218.4(PIK3CA):c.1895T>G (p.Leu632Ter)

SNV
Germline

Chr3:179219719

Pathogenic

Cowden syndrome 5

No Assertion Criteria Provided

CA170893

rs_587777796

1 SubmittersRCV000144512

NM_006218.4(PIK3CA):c.3129G>A (p.Met1043Ile)

SNV
Germline/somatic

Chr3:179234286

Pathogenic/Likely pathogenic

Non-small cell lung carcinoma
PIK3CA related overgrowth syndrome
Cowden syndrome
Megalencephaly-capillary malformation-polymicrogyria syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA183868

rs_121913283

5 SubmittersRCV000155959 RCV000201237 RCV000699681 RCV001526545 RCV002293423

NM_006363.6(SEC23B):c.1648C>T (p.Arg550Ter)

SNV
Germline

Chr20:18543155

Pathogenic

Condition: not provided
Congenital dyserythropoietic anemia, type II
Cowden syndrome 7
Congenital dyserythropoietic anemia, type II
SEC23B-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA234909

rs_199939108

7 SubmittersRCV000153929 RCV001849321 RCV002514962 RCV004737239

NM_006363.6(SEC23B):c.74C>A (p.Pro25His)

SNV
Germline

Chr20:18510909

Conflicting classifications of pathogenicity

Condition: not provided
Congenital dyserythropoietic anemia, type II
Congenital dyserythropoietic anemia, type II
Cowden syndrome 7
Cowden syndrome 7

Criteria Provided
Conflicting Classifications

CA234903

rs_6045440

7 SubmittersRCV000153925 RCV000490449 RCV001082004 RCV001335411

NM_006363.6(SEC23B):c.1489C>T (p.Arg497Cys)

SNV
Germline

Chr20:18542380

Pathogenic

Condition: not provided
Congenital dyserythropoietic anemia, type II
Congenital dyserythropoietic anemia, type II
Cowden syndrome 7
SEC23B-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA234906

rs_727504145

6 SubmittersRCV000153928 RCV000779341 RCV001850108 RCV004737238

NM_000314.8(PTEN):c.70G>C (p.Asp24His)

SNV
Germline/somatic

Chr10:87864539

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
not specified
Ovarian neoplasm
PTEN hamartoma tumor syndrome
Cowden syndrome 1
Glioma

Criteria Provided
Multiple Submitters
No Conflicts

CA000187

rs_786201995

6 SubmittersRCV000165524 RCV000678734 RCV000785578 RCV001315436 RCV001523840 RCV004798791

NM_000314.8(PTEN):c.165-1G>A

SNV
Germline

Chr10:87925512

Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
PTEN hamartoma tumor syndrome
Cowden syndrome 1

Reviewed By Expert Panel

CA000129

rs_786203847

6 SubmittersRCV000167333 RCV000212879 RCV000710306 RCV002288765

NM_000314.8(PTEN):c.261A>G (p.Gln87=)

SNV
Germline

Chr10:87933020

Conflicting classifications of pathogenicity

Cowden syndrome 1
Hereditary cancer-predisposing syndrome
PTEN hamartoma tumor syndrome
not specified

Criteria Provided
Conflicting Classifications

CA000137

rs_149772796

8 SubmittersRCV000412378 RCV000166821 RCV000545595 RCV000612380

NM_000314.8(PTEN):c.406T>C (p.Cys136Arg)

SNV
Germline/somatic

Chr10:87933165

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Acute megakaryoblastic leukemia
Mediastinal germ cell tumor
Condition: not provided
PTEN hamartoma tumor syndrome
Cowden syndrome
Ovarian neoplasm
Glioma susceptibility 2
Cowden syndrome 1
Glioma

Criteria Provided
Multiple Submitters
No Conflicts

CA000151

rs_786201044

14 SubmittersRCV000162428 RCV000202582 RCV000212881 RCV000463307 RCV000587477 RCV000785388 RCV003462114 RCV003389317 RCV004798789

NM_000314.8(PTEN):c.475A>G (p.Arg159Gly)

SNV
Germline

Chr10:87933234

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Cowden syndrome
PTEN hamartoma tumor syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA000161

rs_786202688

5 SubmittersRCV000165624 RCV000760049 RCV001193513 RCV002515152

NM_000314.8(PTEN):c.540C>G (p.Tyr180Ter)

SNV
Germline

Chr10:87952165

Pathogenic

Hereditary cancer-predisposing syndrome
Cowden syndrome 1
PTEN hamartoma tumor syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA000175

rs_786202733

3 SubmittersRCV000165694 RCV003316046 RCV003509505

NM_000314.8(PTEN):c.733C>T (p.Gln245Ter)

SNV
Germline/somatic

Chr10:87957951

Pathogenic

Hereditary cancer-predisposing syndrome
PTEN hamartoma tumor syndrome
Condition: not provided
Cowden syndrome 1
Neoplasm

Criteria Provided
Multiple Submitters
No Conflicts

CA000193

rs_786202918

9 SubmittersRCV000165985 RCV000490581 RCV000756578 RCV003454410 RCV004668826

NM_000314.8(PTEN):c.830C>T (p.Thr277Ile)

SNV
Germline/somatic

Chr10:87960922

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Cowden syndrome
PTEN hamartoma tumor syndrome
Macrocephaly-autism syndrome
Neoplasm

Reviewed By Expert Panel

CA000207

rs_398123329

7 SubmittersRCV000163498 RCV001559615 RCV001269397 RCV003454396 RCV003493469 RCV004668823

NM_000314.8(PTEN):c.1026+1G>A

SNV
Germline/somatic

Chr10:87961119

Pathogenic

Hereditary cancer-predisposing syndrome
Cowden syndrome 1
PTEN hamartoma tumor syndrome
Condition: not provided

Reviewed By Expert Panel

CA000103

rs_786201041

8 SubmittersRCV000162423 RCV000515989 RCV000710314 RCV001528105

NM_003002.4(SDHD):c.304C>A (p.His102Asn)

SNV
Germline

Chr11:112089001

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Pheochromocytoma
Cowden syndrome 3
Carney-Stratakis syndrome
Paragangliomas with sensorineural hearing loss

Criteria Provided
Multiple Submitters
No Conflicts

CA016659

rs_786202403

2 SubmittersRCV000165195 RCV002228740

NM_003002.4(SDHD):c.412G>A (p.Gly138Arg)

SNV
Germline

Chr11:112094902

Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Pheochromocytoma
Cowden syndrome 3
Carney-Stratakis syndrome
Paragangliomas with sensorineural hearing loss

Criteria Provided
Multiple Submitters
No Conflicts

CA017004

rs_786203932

3 SubmittersRCV000167450 RCV000478572 RCV002228995

NM_000314.8(PTEN):c.49C>T (p.Gln17Ter)

SNV
Germline

Chr10:87864518

Pathogenic

Hereditary cancer-predisposing syndrome
PTEN hamartoma tumor syndrome
not specified
Cowden syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA000485

rs_786204910

5 SubmittersRCV000169851 RCV000204017 RCV001002035 RCV003454440

NM_000314.8(PTEN):c.70G>T (p.Asp24Tyr)

SNV
Germline

Chr10:87864539

Pathogenic

Condition: not provided
Cowden syndrome 1
PTEN-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA000552

rs_786201995

3 SubmittersRCV000169787 RCV003454429 RCV004535153

NM_000314.8(PTEN):c.77C>T (p.Thr26Ile)

SNV
Germline

Chr10:87864546

Pathogenic/Likely pathogenic

PTEN hamartoma tumor syndrome
See cases
Cowden syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_786204853

4 SubmittersRCV001065725 RCV001420273 RCV001263192 RCV002408731

NM_000314.8(PTEN):c.182A>G (p.His61Arg)

SNV
Germline/somatic

Chr10:87925530

Likely pathogenic

PTEN hamartoma tumor syndrome
Hereditary cancer-predisposing syndrome
Ovarian neoplasm
Cowden syndrome 1

Reviewed By Expert Panel

CA000332

rs_398123316

6 SubmittersRCV000490582 RCV000491953 RCV000785574 RCV003454430

NM_000314.8(PTEN):c.202T>C (p.Tyr68His)

SNV
Germline

Chr10:87925550

Pathogenic/Likely pathogenic

Condition: not provided
Cowden syndrome 1
Hereditary cancer-predisposing syndrome
PTEN hamartoma tumor syndrome
Cowden syndrome 1
Macrocephaly-autism syndrome
Glioma susceptibility 2
Cowden syndrome 1
Malignant tumor of prostate
Glioma susceptibility 2
Macrocephaly-autism syndrome
Familial meningioma
Macrocephaly-autism syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA000342

rs_398123317

11 SubmittersRCV000169864 RCV000499784 RCV000491290 RCV000552740 RCV003313047 RCV003462271 RCV002505225 RCV003231353

NM_000314.8(PTEN):c.253+1G>T

SNV
Germline

Chr10:87931090

Pathogenic

Condition: not provided
Cowden syndrome 1
PTEN hamartoma tumor syndrome
Hereditary cancer-predisposing syndrome
Macrocephaly-autism syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA000364

rs_587776667

6 SubmittersRCV000169865 RCV000515902 RCV000645046 RCV002453570 RCV001836741

NM_000314.8(PTEN):c.367C>T (p.His123Tyr)

SNV
Germline

Chr10:87933126

Pathogenic/Likely pathogenic

Condition: not provided
PTEN hamartoma tumor syndrome
Cowden syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA000417

rs_786204931

5 SubmittersRCV000169876 RCV000554647 RCV002288777

NM_000314.8(PTEN):c.385G>A (p.Gly129Arg)

SNV
Germline

Chr10:87933144

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
PTEN hamartoma tumor syndrome
Cowden syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA000429

rs_786204929

5 SubmittersRCV000169874 RCV000570808 RCV000988419 RCV003454441

NM_000314.8(PTEN):c.407G>A (p.Cys136Tyr)

SNV
Germline/somatic

Chr10:87933166

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
PTEN hamartoma tumor syndrome
Malignant tumor of urinary bladder
Cowden syndrome 1

Reviewed By Expert Panel

CA000451

rs_786204859

6 SubmittersRCV000169797 RCV000217011 RCV000552515 RCV003332137 RCV003454431

NM_000314.8(PTEN):c.448G>T (p.Glu150Ter)

SNV
Germline

Chr10:87933207

Pathogenic

Hereditary cancer-predisposing syndrome
PTEN hamartoma tumor syndrome
Cowden syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA000460

rs_786204934

3 SubmittersRCV000491120 RCV001202091 RCV003454442

NM_000314.8(PTEN):c.511C>T (p.Gln171Ter)

SNV
Germline

Chr10:87952136

Pathogenic

Condition: not provided
PTEN hamartoma tumor syndrome
Hereditary cancer-predisposing syndrome
Cowden syndrome 1
PTEN-related disorder

Reviewed By Expert Panel

CA000494

rs_786204864

8 SubmittersRCV000169804 RCV000233297 RCV000491520 RCV003454432 RCV004535154

NM_000314.8(PTEN):c.512A>G (p.Gln171Arg)

SNV
Germline

Chr10:87952137

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
PTEN hamartoma tumor syndrome
Macrocephaly-autism syndrome
Familial meningioma
Malignant tumor of prostate
Cowden syndrome 1
Glioma susceptibility 2

Criteria Provided
Conflicting Classifications

CA000496

rs_786204865

4 SubmittersRCV000582640 RCV002345569 RCV002515206 RCV002505224

NM_000314.8(PTEN):c.517C>T (p.Arg173Cys)

SNV
Germline/somatic

Chr10:87952142

Pathogenic

not specified
Cowden syndrome 1
PTEN hamartoma tumor syndrome
Glioma susceptibility 2
Condition: not provided
Neurodevelopmental delay
Malignant lymphoma, large B-cell, diffuse
Hereditary cancer-predisposing syndrome
Macrocephaly-autism syndrome
VACTERL with hydrocephalus
Cowden syndrome 1
Macrocephaly-autism syndrome
Familial meningioma
Malignant tumor of prostate
Glioma susceptibility 2
Cowden syndrome 1

Reviewed By Expert Panel

CA000498

rs_121913293

19 SubmittersRCV000678738 RCV001813763 RCV000490574 RCV003468848 RCV000169890 RCV002273970 RCV003448976 RCV000218276 RCV000850588 RCV002478525

NM_000314.8(PTEN):c.801+1G>A

SNV
Germline

Chr10:87958020

Pathogenic/Likely pathogenic

Condition: not provided
PTEN hamartoma tumor syndrome
Cowden syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA000584

rs_786204873

3 SubmittersRCV000169813 RCV001384751 RCV003454433

NM_000314.8(PTEN):c.802-2A>G

SNV
Germline

Chr10:87960892

Pathogenic

Hereditary cancer-predisposing syndrome
Cowden syndrome 1
PTEN hamartoma tumor syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA000590

rs_587782455

6 SubmittersRCV000491383 RCV000515982 RCV000470021 RCV003884371

NM_000314.8(PTEN):c.919G>T (p.Glu307Ter)

SNV
Germline

Chr10:87961011

Pathogenic

Condition: not provided
Cowden syndrome 1
PTEN-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA000633

rs_746930141

3 SubmittersRCV000169816 RCV003454434 RCV004535155

NM_000314.8(PTEN):c.1026+1G>C

SNV
Germline/somatic

Chr10:87961119

Pathogenic

Cowden syndrome 1
Hereditary cancer-predisposing syndrome
Condition: not provided
PTEN hamartoma tumor syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA000253

rs_786201041

4 SubmittersRCV000515893 RCV000570522 RCV001578271 RCV002516536

NM_006363.6(SEC23B):c.773A>G (p.Gln258Arg)

SNV
Germline

Chr20:18525871

Conflicting classifications of pathogenicity

Condition: not provided
Congenital dyserythropoietic anemia, type II
Cowden syndrome 7
Congenital dyserythropoietic anemia, type II
SEC23B-related disorder

Criteria Provided
Conflicting Classifications

CA247249

rs_534770840

4 SubmittersRCV000179916 RCV000329540 RCV001509924 RCV004553017

NM_000314.8(PTEN):c.71A>G (p.Asp24Gly)

SNV
Germline

Chr10:87864540

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
PTEN hamartoma tumor syndrome
Condition: not provided
Cowden syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA204760

rs_797044910

6 SubmittersRCV000190739 RCV000234212 RCV001268658 RCV003454489

NM_000314.8(PTEN):c.860C>G (p.Ser287Ter)

SNV
Germline

Chr10:87960952

Pathogenic/Likely pathogenic

Cowden syndrome 1
Bannayan-Riley-Ruvalcaba syndrome
Macrocephaly-autism syndrome
7 conditions
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA279050

rs_863224909

3 SubmittersRCV000200784 RCV000763222 RCV004020478

NM_006218.4(PIK3CA):c.311C>T (p.Pro104Leu)

SNV
Germline/somatic

Chr3:179199136

Pathogenic/Likely pathogenic

PIK3CA related overgrowth syndrome
Cowden syndrome
Condition: not provided
PIK3CA-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA279138

rs_863225060

4 SubmittersRCV000201238 RCV001221647 RCV002254285 RCV004737318

NM_006218.4(PIK3CA):c.3129G>T (p.Met1043Ile)

SNV
Germline/somatic

Chr3:179234286

Pathogenic

Cowden syndrome
PIK3CA related overgrowth syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA210107

rs_121913283

4 SubmittersRCV000631214 RCV000201236 RCV003320599

NM_006218.4(PIK3CA):c.1635G>T (p.Glu545Asp)

SNV
Germline/somatic

Chr3:179218305

Pathogenic/Likely pathogenic

PIK3CA related overgrowth syndrome
Megalencephaly-capillary malformation-polymicrogyria syndrome
Cowden syndrome
Capillary malformation

Criteria Provided
Multiple Submitters
No Conflicts

CA210104

rs_121913275

5 SubmittersRCV000201234 RCV001775099 RCV002517302 RCV003485561

NM_003002.4(SDHD):c.118A>C (p.Ile40Leu)

SNV
Germline

Chr11:112087922

Conflicting classifications of pathogenicity

Paragangliomas 1
Hereditary cancer-predisposing syndrome
Hereditary pheochromocytoma-paraganglioma
Pheochromocytoma
Carney-Stratakis syndrome
Paragangliomas with sensorineural hearing loss
Cowden syndrome 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA277884

rs_146276662

6 SubmittersRCV000202919 RCV000575031 RCV001105197 RCV003103746 RCV004998421

NM_001382430.1(AKT1):c.1394G>A (p.Arg465His)

SNV
Germline

Chr14:104770390

Conflicting classifications of pathogenicity

Cowden syndrome 6
Condition: not provided

Criteria Provided
Conflicting Classifications

CA349773

rs_113547523

3 SubmittersRCV000205643 RCV003237770

NM_000314.8(PTEN):c.118G>T (p.Glu40Ter)

SNV
Germline

Chr10:87894063

Pathogenic

Cowden syndrome
Cowden syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA357808

rs_869312778

2 SubmittersRCV000210162 RCV003454556

NM_000314.8(PTEN):c.408T>G (p.Cys136Trp)

SNV
Germline

Chr10:87933167

Conflicting classifications of pathogenicity

Cowden syndrome
PTEN hamartoma tumor syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA357779

rs_869312776

4 SubmittersRCV000210082 RCV001853360 RCV003165516 RCV003228913

NM_000314.8(PTEN):c.486C>G (p.Asp162Glu)

SNV
Germline

Chr10:87933245

Likely pathogenic

Cowden syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA357794

rs_869312777

2 SubmittersRCV000210132 RCV002253291

NM_000314.8(PTEN):c.635-1G>C

SNV
Germline/somatic

Chr10:87957852

Pathogenic/Likely pathogenic

Condition: not provided
Cowden syndrome 1
PTEN hamartoma tumor syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10577419

rs_876661024

8 SubmittersRCV000221132 RCV000515885 RCV000645031 RCV001182324

NM_000314.8(PTEN):c.945T>A (p.Tyr315Ter)

SNV
Germline

Chr10:87961037

Pathogenic

Condition: not provided
Cowden syndrome 1
PTEN hamartoma tumor syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10577421

rs_876661058

3 SubmittersRCV000222109 RCV003454667 RCV003509517

NM_000314.8(PTEN):c.1069C>A (p.Pro357Thr)

SNV
Germline

Chr10:87965329

Conflicting classifications of pathogenicity

Condition: not provided
PTEN hamartoma tumor syndrome
Cowden syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10577425

rs_876661264

8 SubmittersRCV000221425 RCV000231001 RCV000663026 RCV000573110

NM_000314.8(PTEN):c.103A>G (p.Met35Val)

SNV
Germline

Chr10:87894048

Pathogenic

Condition: not provided
PTEN hamartoma tumor syndrome
Hereditary cancer-predisposing syndrome
Familial meningioma
Cowden syndrome 1

Reviewed By Expert Panel

CA10578906

rs_876659443

11 SubmittersRCV000479090 RCV000548863 RCV000771914 RCV001198718 RCV002272180

NM_000314.8(PTEN):c.144C>G (p.Asn48Lys)

SNV
Germline

Chr10:87894089

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Cowden syndrome 1
PTEN hamartoma tumor syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10578908

rs_762518389

3 SubmittersRCV000213950 RCV003454636 RCV003619663

NM_000314.8(PTEN):c.203A>G (p.Tyr68Cys)

SNV
Germline

Chr10:87925551

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
PTEN hamartoma tumor syndrome
8 conditions
Cowden syndrome 1
Condition: not provided
See cases

Criteria Provided
Multiple Submitters
No Conflicts

CA10578910

rs_876660634

7 SubmittersRCV000215167 RCV000690989 RCV000735377 RCV001332358 RCV001551732 RCV003156087

NM_000314.8(PTEN):c.371G>A (p.Cys124Tyr)

SNV
Germline

Chr10:87933130

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
PTEN hamartoma tumor syndrome
Cowden syndrome 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10578914

rs_876660535

6 SubmittersRCV000220547 RCV000471590 RCV002470824 RCV003223628

NM_003002.4(SDHD):c.320T>G (p.Leu107Arg)

SNV
Germline

Chr11:112094810

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Pheochromocytoma
Pheochromocytoma
Paragangliomas with sensorineural hearing loss
Cowden syndrome 3
Carney-Stratakis syndrome
Hereditary pheochromocytoma-paraganglioma
Mitochondrial complex 2 deficiency, nuclear type 3

Criteria Provided
Conflicting Classifications

CA10579346

rs_876658477

7 SubmittersRCV000219575 RCV000986022 RCV001294091 RCV002229212 RCV002282052 RCV003475006

NM_000314.8(PTEN):c.195C>G (p.Tyr65Ter)

SNV
Germline

Chr10:87925543

Pathogenic

PTEN hamartoma tumor syndrome
Hereditary cancer-predisposing syndrome
Cowden syndrome 1

Reviewed By Expert Panel

CA10582757

rs_878853936

4 SubmittersRCV000226814 RCV003165600 RCV003454703

NM_000314.8(PTEN):c.209+2T>A

SNV
Germline

Chr10:87925559

Pathogenic

PTEN hamartoma tumor syndrome
Cowden syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10582758

rs_878853937

2 SubmittersRCV000229236 RCV002283471

NM_000314.8(PTEN):c.877G>T (p.Gly293Ter)

SNV
Germline

Chr10:87960969

Pathogenic

PTEN hamartoma tumor syndrome
Cowden syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10582766

rs_878853944

2 SubmittersRCV000234288 RCV003454704

NM_003002.4(SDHD):c.361C>T (p.Gln121Ter)

SNV
Germline

Chr11:112094851

Pathogenic/Likely pathogenic

Carney-Stratakis syndrome
Cowden syndrome 3
Pheochromocytoma
Paragangliomas with sensorineural hearing loss
Pheochromocytoma

Criteria Provided
Multiple Submitters
No Conflicts

CA10582872

rs_878854594

2 SubmittersRCV002229350 RCV002288922

NM_006218.4(PIK3CA):c.2985C>T (p.Ala995=)

SNV
Germline

Chr3:179234142

Conflicting classifications of pathogenicity

Condition: not provided
Cowden syndrome
Cowden syndrome 5

Criteria Provided
Conflicting Classifications

CA2711051

rs_201884756

5 SubmittersRCV000597490 RCV001084863 RCV003316317

NM_005228.5(EGFR):c.977G>T (p.Cys326Phe)

SNV
Germline

Chr7:55155917

Pathogenic

Cowden syndrome 1

No Assertion Criteria Provided

CA10586342

rs_886037891

1 SubmittersRCV000256393

NM_006218.4(PIK3CA):c.323G>A (p.Arg108His)

SNV
Germline

Chr3:179199148

Pathogenic/Likely pathogenic

Condition: not provided
Megalencephaly-capillary malformation-polymicrogyria syndrome
Cowden syndrome
See cases
not specified

Criteria Provided
Multiple Submitters
No Conflicts

CA10602871

rs_886042002

6 SubmittersRCV000404833 RCV001353357 RCV001859541 RCV002287404 RCV001195259

NM_000314.8(PTEN):c.80A>C (p.Tyr27Ser)

SNV
Germline

Chr10:87894025

Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
PTEN hamartoma tumor syndrome
Cowden syndrome 1

Reviewed By Expert Panel

CA10603162

rs_886041877

5 SubmittersRCV000355517 RCV002418104 RCV001855073 RCV003454785

NM_000314.8(PTEN):c.634+5G>A

SNV
Germline

Chr10:87952264

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
PTEN hamartoma tumor syndrome
Intellectual disability
Malignant tumor of prostate
Macrocephaly-autism syndrome
Familial meningioma
Glioma susceptibility 2
Cowden syndrome 1

Reviewed By Expert Panel

CA10603167

rs_138336847

6 SubmittersRCV000491116 RCV000285177 RCV000703228 RCV001526576 RCV002479995

NM_006363.6(SEC23B):c.519G>A (p.Val173=)

SNV
Germline

Chr20:18524585

Conflicting classifications of pathogenicity

Condition: not provided
Congenital dyserythropoietic anemia, type II
Cowden syndrome 7
Congenital dyserythropoietic anemia, type II
SEC23B-related disorder

Criteria Provided
Conflicting Classifications

CA9778047

rs_138314893

6 SubmittersRCV000395336 RCV001079079 RCV001141444 RCV004547716

NM_003002.4(SDHD):c.53C>T (p.Ala18Val)

SNV
Germline

Chr11:112087857

Conflicting classifications of pathogenicity

Hereditary pheochromocytoma-paraganglioma
Hereditary cancer-predisposing syndrome
Condition: not provided
Paragangliomas with sensorineural hearing loss
Cowden syndrome 3
Carney-Stratakis syndrome
Pheochromocytoma
Paragangliomas 1
Mitochondrial complex 2 deficiency, nuclear type 3
SDHD-related disorder

Criteria Provided
Conflicting Classifications

CA071521

rs_192332761

15 SubmittersRCV000344579 RCV000571997 RCV000506525 RCV002229954 RCV002288968 RCV003475929 RCV004748715

NM_006363.6(SEC23B):c.1299G>A (p.Pro433=)

SNV
Germline

Chr20:18532729

Conflicting classifications of pathogenicity

Congenital dyserythropoietic anemia, type II
Congenital dyserythropoietic anemia, type II
Cowden syndrome 7

Criteria Provided
Conflicting Classifications

CA9778303

rs_767683935

2 SubmittersRCV000372385 RCV002520000

NM_006363.6(SEC23B):c.1335G>A (p.Thr445=)

SNV
Germline

Chr20:18535673

Conflicting classifications of pathogenicity

Congenital dyserythropoietic anemia, type II
Congenital dyserythropoietic anemia, type II
Cowden syndrome 7
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9778321

rs_146587686

3 SubmittersRCV000282343 RCV000890287 RCV001532448

NM_006363.6(SEC23B):c.1512T>C (p.Asn504=)

SNV
Germline

Chr20:18543019

Conflicting classifications of pathogenicity

not specified
Congenital dyserythropoietic anemia, type II
Cowden syndrome 7
Congenital dyserythropoietic anemia, type II
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9778401

rs_138198461

9 SubmittersRCV000736084 RCV000878440 RCV000990293 RCV001509053

NM_006363.6(SEC23B):c.1809A>G (p.Ser603=)

SNV
Germline

Chr20:18548674

Conflicting classifications of pathogenicity

Congenital dyserythropoietic anemia, type II
Congenital dyserythropoietic anemia, type II
Cowden syndrome 7
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9778503

rs_139882548

3 SubmittersRCV000308177 RCV000878323 RCV003430857

NM_006363.6(SEC23B):c.85C>T (p.Leu29=)

SNV
Germline

Chr20:18510920

Conflicting classifications of pathogenicity

Congenital dyserythropoietic anemia, type II
Congenital dyserythropoietic anemia, type II
Cowden syndrome 7

Criteria Provided
Conflicting Classifications

CA10652967

rs_886056525

2 SubmittersRCV000302624 RCV003765965

NM_006363.6(SEC23B):c.1198T>C (p.Phe400Leu)

SNV
Germline

Chr20:18530768

Conflicting classifications of pathogenicity

Congenital dyserythropoietic anemia, type II
Congenital dyserythropoietic anemia, type II
Cowden syndrome 7
Condition: not provided
SEC23B-related disorder

Criteria Provided
Conflicting Classifications

CA9778252

rs_142461689

6 SubmittersRCV000275527 RCV000945938 RCV001509049 RCV004549773

NM_000314.8(PTEN):c.801+8C>G

SNV
Germline

Chr10:87958027

Conflicting classifications of pathogenicity

Cowden syndrome 1
PTEN hamartoma tumor syndrome
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA16042124

rs_1057517630

5 SubmittersRCV000410432 RCV000464000 RCV000775839 RCV001193511

NM_000314.8(PTEN):c.1027-1G>A

SNV
Germline/somatic

Chr10:87965286

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
PTEN hamartoma tumor syndrome
Ovarian neoplasm
Cowden syndrome 1

Reviewed By Expert Panel

CA16042723

rs_1057517809

6 SubmittersRCV000414617 RCV000491449 RCV000690306 RCV000785587 RCV003449035

NM_000314.8(PTEN):c.320A>T (p.Asp107Val)

SNV
Germline

Chr10:87933079

Pathogenic

Condition: not provided
PTEN hamartoma tumor syndrome
Macrocephaly-autism syndrome
Cowden syndrome 1

Reviewed By Expert Panel

CA16042748

rs_786204858

6 SubmittersRCV000413179 RCV000490579 RCV003137990 RCV003449034

NM_001382430.1(AKT1):c.236A>G (p.Gln79Arg)

SNV
Germline

Chr14:104776710

Conflicting classifications of pathogenicity

Condition: not provided
Cowden syndrome 6

Criteria Provided
Conflicting Classifications

CA16042842

rs_1057518602

2 SubmittersRCV000413604 RCV001851003

NM_006218.4(PIK3CA):c.1059+12T>A

SNV
Germline

Chr3:179203801

Conflicting classifications of pathogenicity

Facial asymmetry
Overgrowth
Hemimegalencephaly
Cowden syndrome

Criteria Provided
Conflicting Classifications

CA2710624

rs_200627037

2 SubmittersRCV000415184 RCV002524666

NM_000314.8(PTEN):c.388C>G (p.Arg130Gly)

SNV
Germline/somatic

Chr10:87933147

Pathogenic

PTEN hamartoma tumor syndrome
Endometrial carcinoma
Condition: not provided
Cowden syndrome 1
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA16602437

rs_121909224

7 SubmittersRCV000790885 RCV000677621 RCV001796030 RCV001808792 RCV004659022

NM_000314.8(PTEN):c.518G>A (p.Arg173His)

SNV
Germline/somatic

Chr10:87952143

Pathogenic/Likely pathogenic

PTEN hamartoma tumor syndrome
Condition: not provided
Cowden syndrome 1
Hereditary cancer-predisposing syndrome
Neoplasm

Criteria Provided
Multiple Submitters
No Conflicts

CA060209

rs_121913294

14 SubmittersRCV000490595 RCV000484180 RCV002289517 RCV002338980 RCV004668926

NM_006218.4(PIK3CA):c.263G>A (p.Arg88Gln)

SNV
Germline/somatic

Chr3:179199088

Pathogenic

Ovarian neoplasm
Cowden syndrome
Condition: not provided
Neoplasm
PIK3CA related overgrowth syndrome
Abnormal cerebral morphology
CLOVES syndrome
Megalencephaly-capillary malformation-polymicrogyria syndrome
Cowden syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA16602516

rs_121913287

10 SubmittersRCV000785354 RCV001224952 RCV001562650 RCV004668930 RCV002274026 RCV002275002 RCV004767253 RCV003225067 RCV003995942

NM_006218.4(PIK3CA):c.3062A>G (p.Tyr1021Cys)

SNV
Germline/somatic

Chr3:179234219

Pathogenic

Cowden syndrome
Abnormal cardiovascular system morphology

Criteria Provided
Single Submitter

CA16602699

rs_121913288

2 SubmittersRCV001851016 RCV001327967

NM_006218.4(PIK3CA):c.1357G>A (p.Glu453Lys)

SNV
Germline/somatic

Chr3:179210291

Pathogenic

Ovarian neoplasm
Megalencephaly-capillary malformation-polymicrogyria syndrome
CLOVES syndrome
PIK3CA related overgrowth syndrome
Abnormal cardiovascular system morphology
Condition: not provided
PIK3CA-related disorder
Cowden syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16602904

rs_1057519925

11 SubmittersRCV000785580 RCV000991209 RCV001526693 RCV002472374 RCV001327961 RCV001775789 RCV002244865 RCV001861479

NM_006218.4(PIK3CA):c.2176G>A (p.Glu726Lys)

SNV
Germline/somatic

Chr3:179221146

Pathogenic

Condition: not provided
Inborn genetic diseases
Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
Cowden syndrome
Megalencephaly-capillary malformation-polymicrogyria syndrome
PIK3CA related overgrowth syndrome

Reviewed By Expert Panel

CA16602910

rs_867262025

10 SubmittersRCV000484330 RCV000624735 RCV001836817 RCV001851018 RCV003152707 RCV003233633

NM_006218.4(PIK3CA):c.241G>A (p.Glu81Lys)

SNV
Germline/somatic

Chr3:179199066

Pathogenic

CLOVES syndrome
Condition: not provided
Megalencephaly-capillary malformation-polymicrogyria syndrome
Abnormal cardiovascular system morphology
PIK3CA related overgrowth syndrome
Cowden syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16602912

rs_1057519929

7 SubmittersRCV001526599 RCV001837893 RCV001542570 RCV001327958 RCV003458199 RCV002524695

NM_006218.4(PIK3CA):c.317G>T (p.Gly106Val)

SNV
Germline/somatic

Chr3:179199142

Conflicting classifications of pathogenicity

Cowden syndrome
CLOVES syndrome
PIK3CA related overgrowth syndrome

Criteria Provided
Conflicting Classifications

CA16602913

rs_1057519930

3 SubmittersRCV000631208 RCV001526649 RCV004719813

NM_006218.4(PIK3CA):c.331A>G (p.Lys111Glu)

SNV
Unknown

Chr3:179199156

Pathogenic

Cowden syndrome 5

Criteria Provided
Single Submitter

CA16602916

rs_1057519933

1 SubmittersRCV003147452

NM_006218.4(PIK3CA):c.1030G>A (p.Val344Met)

SNV
Germline

Chr3:179203760

Pathogenic

Condition: not provided
Cowden syndrome
Cowden syndrome 5
Megalencephaly, autosomal dominant
Diaphragmatic eventration
Abnormality of the hairline
Hypertelorism
Intestinal duplication
PIK3CA related overgrowth syndrome
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA16602930

rs_1057519942

9 SubmittersRCV000485942 RCV000631216 RCV000767535 RCV000852337 RCV003985084 RCV004955473

NM_000314.8(PTEN):c.389G>T (p.Arg130Leu)

SNV
Germline

Chr10:87933148

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
PTEN hamartoma tumor syndrome
Cowden syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16602940

rs_121909229

9 SubmittersRCV000482735 RCV000490825 RCV001851019 RCV003152708

NM_000314.8(PTEN):c.210-9T>C

SNV
Germline

Chr10:87931037

Conflicting classifications of pathogenicity

not specified
PTEN hamartoma tumor syndrome
Hereditary cancer-predisposing syndrome
Cowden syndrome 1
Condition: not provided
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA059529

rs_751744545

13 SubmittersRCV000439463 RCV000461856 RCV000582603 RCV000663242 RCV001729584 RCV001798800

NM_000314.8(PTEN):c.254-6C>T

SNV
Germline

Chr10:87933007

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
PTEN hamartoma tumor syndrome
Cowden syndrome 1

Criteria Provided
Conflicting Classifications

CA16605979

rs_1057520525

4 SubmittersRCV000427194 RCV000580562 RCV000921932 RCV002470856

NM_000314.8(PTEN):c.164+1G>T

SNV
Germline

Chr10:87894110

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Cowden syndrome 1
PTEN hamartoma tumor syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16606092

rs_1554893835

4 SubmittersRCV000433720 RCV000491416 RCV003449057 RCV002521586

NM_000314.8(PTEN):c.430A>T (p.Lys144Ter)

SNV
Germline

Chr10:87933189

Pathogenic/Likely pathogenic

Condition: not provided
PTEN hamartoma tumor syndrome
Cowden syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16606102

rs_1057520622

3 SubmittersRCV000435296 RCV001058791 RCV001194183

NM_003000.3(SDHB):c.440A>G (p.Tyr147Cys)

SNV
Germline

Chr1:17027849

Conflicting classifications of pathogenicity

Gastrointestinal stromal tumor
Pheochromocytoma
Paragangliomas 4
Hereditary cancer-predisposing syndrome
Cowden syndrome
Pheochromocytoma
Condition: not provided
not specified
Hereditary pheochromocytoma-paraganglioma
Gastrointestinal stromal tumor

Criteria Provided
Conflicting Classifications

CA089628

rs_774568101

7 SubmittersRCV000469133 RCV000492611 RCV000708786 RCV001294088 RCV001755709 RCV002282162 RCV004001997 RCV004568126

NM_000314.8(PTEN):c.445C>T (p.Gln149Ter)

SNV
Germline

Chr10:87933204

Pathogenic

PTEN hamartoma tumor syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Cowden syndrome 1
Glioma

Criteria Provided
Multiple Submitters
No Conflicts

CA16612898

rs_1060500122

5 SubmittersRCV000458930 RCV000575083 RCV001539518 RCV003449112 RCV004798834

NM_000314.8(PTEN):c.235G>T (p.Ala79Ser)

SNV
Germline

Chr10:87931071

Conflicting classifications of pathogenicity

PTEN hamartoma tumor syndrome
Cowden syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16613003

rs_202004587

8 SubmittersRCV000459127 RCV000662964 RCV000775802

NM_000314.8(PTEN):c.176C>G (p.Ser59Ter)

SNV
Germline

Chr10:87925524

Pathogenic

PTEN hamartoma tumor syndrome
Hereditary cancer-predisposing syndrome
Cowden syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16613155

rs_1060500116

3 SubmittersRCV000473713 RCV002402229 RCV003449109

NM_000314.8(PTEN):c.675T>G (p.Tyr225Ter)

SNV
Germline

Chr10:87957893

Pathogenic

PTEN hamartoma tumor syndrome
Condition: not provided
Hemangioma
Cowden syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16613166

rs_1057520900

4 SubmittersRCV000457859 RCV000484536 RCV000678739 RCV003449111

NM_003002.4(SDHD):c.315G>A (p.Trp105Ter)

SNV
Germline

Chr11:112094805

Pathogenic

Paragangliomas with sensorineural hearing loss
Pheochromocytoma
Carney-Stratakis syndrome
Cowden syndrome 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16613226

rs_1060503769

2 SubmittersRCV002230838 RCV002323759

NM_000314.8(PTEN):c.80A>G (p.Tyr27Cys)

SNV
Germline

Chr10:87894025

Likely pathogenic

PTEN hamartoma tumor syndrome
Hereditary cancer-predisposing syndrome
Cowden syndrome 1

Reviewed By Expert Panel

CA16613238

rs_886041877

4 SubmittersRCV000471888 RCV001027175 RCV003449110

NM_000314.8(PTEN):c.464A>G (p.Tyr155Cys)

SNV
Germline

Chr10:87933223

Pathogenic

PTEN hamartoma tumor syndrome
Cowden syndrome 1
Hereditary cancer-predisposing syndrome
Condition: not provided
PTEN hamartoma tumor syndromes
Macrocephaly-autism syndrome
Cowden syndrome 1
Gastric cancer
Glioma susceptibility 2
Papillary tumor of the pineal region

Reviewed By Expert Panel

CA16613246

rs_1060500126

17 SubmittersRCV000475421 RCV000656112 RCV001022838 RCV001092596 RCV001258059 RCV003326136 RCV003168731 RCV003470396 RCV003492047

NM_003002.4(SDHD):c.270G>C (p.Ala90=)

SNV
Germline

Chr11:112088967

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Paragangliomas with sensorineural hearing loss
Cowden syndrome 3
Carney-Stratakis syndrome
Pheochromocytoma
Hereditary pheochromocytoma-paraganglioma

Criteria Provided
Conflicting Classifications

CA070986

rs_766656463

3 SubmittersRCV002431384 RCV002231076 RCV004002233

NM_003002.4(SDHD):c.325C>T (p.Gln109Ter)

SNV
Germline

Chr11:112094815

Pathogenic

Hereditary cancer-predisposing syndrome
Paragangliomas with sensorineural hearing loss
Pheochromocytoma
Carney-Stratakis syndrome
Cowden syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

CA16613252

rs_1060503770

2 SubmittersRCV000492697 RCV002230658

NM_003002.4(SDHD):c.331G>A (p.Val111Ile)

SNV
Germline

Chr11:112094821

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Paragangliomas with sensorineural hearing loss
Pheochromocytoma
Carney-Stratakis syndrome
Cowden syndrome 3
Paragangliomas 1
Mitochondrial complex 2 deficiency, nuclear type 3

Criteria Provided
Conflicting Classifications

CA071246

rs_201869798

5 SubmittersRCV000565076 RCV001591105 RCV002230665 RCV003325203 RCV003476144

NM_003002.4(SDHD):c.269C>A (p.Ala90Glu)

SNV
Germline

Chr11:112088966

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Microcephaly
Paragangliomas with sensorineural hearing loss
Pheochromocytoma
Carney-Stratakis syndrome
Cowden syndrome 3
Condition: not provided

Criteria Provided
Conflicting Classifications

CA070965

rs_200255724

4 SubmittersRCV001016345 RCV001252746 RCV002230664 RCV003235231

NM_003002.4(SDHD):c.269C>T (p.Ala90Val)

SNV
Germline

Chr11:112088966

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Paragangliomas with sensorineural hearing loss
Cowden syndrome 3
Carney-Stratakis syndrome
Pheochromocytoma

Criteria Provided
Conflicting Classifications

CA070974

rs_200255724

5 SubmittersRCV000562410 RCV001584171 RCV001821298 RCV002230663

NM_003002.4(SDHD):c.255G>C (p.Leu85Phe)

SNV
Germline

Chr11:112088952

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Paragangliomas with sensorineural hearing loss
Cowden syndrome 3
Carney-Stratakis syndrome
Pheochromocytoma
Paragangliomas 1
Mitochondrial complex 2 deficiency, nuclear type 3
Hereditary pheochromocytoma-paraganglioma

Criteria Provided
Conflicting Classifications

CA070935

rs_199517389

9 SubmittersRCV000508222 RCV000562051 RCV001328335 RCV002230195 RCV003153649 RCV003476141 RCV004002008

NM_006218.4(PIK3CA):c.1093G>A (p.Glu365Lys)

SNV
Germline/somatic

Chr3:179204536

Pathogenic

Condition: not provided
Cowden syndrome
Ovarian neoplasm
Megalencephaly-capillary malformation-polymicrogyria syndrome
Angioosteohypertrophic syndrome
PIK3CA-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA16617848

rs_1064793732

7 SubmittersRCV000484163 RCV000798360 RCV000785369 RCV001526558 RCV002254298 RCV004535503

NM_006218.4(PIK3CA):c.3131A>G (p.Asn1044Ser)

SNV
Germline

Chr3:179234288

Pathogenic

Condition: not provided
Cowden syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16617853

rs_1064793838

3 SubmittersRCV000479562 RCV001856831

NM_000314.8(PTEN):c.209+1G>A

SNV
Germline

Chr10:87925558

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial meningioma
PTEN hamartoma tumor syndrome
Malignant tumor of prostate
Macrocephaly-autism syndrome
Cowden syndrome 1
Familial meningioma
Glioma susceptibility 2

Criteria Provided
Multiple Submitters
No Conflicts

CA16619047

rs_1554897280

5 SubmittersRCV000482154 RCV000491897 RCV001197835 RCV001219616 RCV002489144

NM_000314.8(PTEN):c.323T>C (p.Leu108Pro)

SNV
Germline

Chr10:87933082

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
PTEN hamartoma tumor syndrome
Condition: not provided
Cowden syndrome 1
Malignant tumor of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA16619052

rs_1064793243

6 SubmittersRCV000490832 RCV000688225 RCV000479867 RCV003449170 RCV001357264

NM_000314.8(PTEN):c.922C>T (p.Arg308Cys)

SNV
Germline

Chr10:87961014

Conflicting classifications of pathogenicity

Condition: not provided
PTEN hamartoma tumor syndrome
Hereditary cancer-predisposing syndrome
not specified
Macrocephaly-autism syndrome
Malignant tumor of prostate
Familial meningioma
Glioma susceptibility 2
Cowden syndrome 1
PTEN-related disorder

Criteria Provided
Conflicting Classifications

CA16619066

rs_1064794436

11 SubmittersRCV000480358 RCV000526594 RCV000561633 RCV002268122 RCV002475934 RCV004735560

NM_000314.8(PTEN):c.947T>C (p.Leu316Pro)

SNV
Germline

Chr10:87961039

Likely pathogenic

Condition: not provided
Macrocephaly-autism syndrome
Cowden syndrome 1
PTEN hamartoma tumor syndrome

Reviewed By Expert Panel

CA16619068

rs_1064793345

3 SubmittersRCV000480591 RCV000678387 RCV001078166

NM_003002.4(SDHD):c.1A>T (p.Met1Leu)

SNV
Germline

Chr11:112086908

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Cowden syndrome 3
Carney-Stratakis syndrome
Paragangliomas with sensorineural hearing loss
Pheochromocytoma

Criteria Provided
Multiple Submitters
No Conflicts

CA070834

rs_104894307

3 SubmittersRCV000485004 RCV000492287 RCV002526633

NM_003002.4(SDHD):c.275A>T (p.Asp92Val)

SNV
Germline

Chr11:112088972

Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Paragangliomas with sensorineural hearing loss
Cowden syndrome 3
Carney-Stratakis syndrome
Pheochromocytoma

Criteria Provided
Multiple Submitters
No Conflicts

CA16619272

rs_786205436

3 SubmittersRCV000479419 RCV000569878 RCV002525847

NM_000314.8(PTEN):c.131G>A (p.Gly44Asp)

SNV
Germline

Chr10:87894076

Pathogenic

PTEN hamartoma tumor syndrome
Condition: not provided
Cowden syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA377784538

rs_1085308042

3 SubmittersRCV000490575 RCV001092593 RCV003492073

NM_000314.8(PTEN):c.165-2A>G

SNV
Germline

Chr10:87925511

Pathogenic

PTEN hamartoma tumor syndrome
Cowden syndrome 1
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA377784973

rs_1085308043

5 SubmittersRCV000490612 RCV000516092 RCV000657856 RCV001012591

NM_000314.8(PTEN):c.253+1G>C

SNV
Germline

Chr10:87931090

Pathogenic

PTEN hamartoma tumor syndrome
Hereditary cancer-predisposing syndrome
Cowden syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA377481417

rs_587776667

3 SubmittersRCV000490594 RCV000491885 RCV003316641

NM_000314.8(PTEN):c.401T>C (p.Met134Thr)

SNV
Germline

Chr10:87933160

Pathogenic/Likely pathogenic

PTEN hamartoma tumor syndrome
Hereditary cancer-predisposing syndrome
Cowden syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA377482338

rs_1085308046

4 SubmittersRCV000490616 RCV001021679 RCV003449265

NM_000314.8(PTEN):c.635-3C>G

SNV
Germline/somatic

Chr10:87957850

Likely pathogenic

PTEN hamartoma tumor syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Cowden syndrome 1

Reviewed By Expert Panel

CA645294060

rs_1085308056

7 SubmittersRCV000490589 RCV000491647 RCV000853544 RCV004591433

NM_000314.8(PTEN):c.635-1G>A

SNV
Germline

Chr10:87957852

Pathogenic/Likely pathogenic

PTEN hamartoma tumor syndrome
Cowden syndrome 1
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA377484748

rs_876661024

5 SubmittersRCV000490578 RCV003449267 RCV001591129 RCV004659069

NM_000314.8(PTEN):c.667A>T (p.Lys223Ter)

SNV
Germline

Chr10:87957885

Pathogenic

PTEN hamartoma tumor syndrome
Condition: not provided
Cowden syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA377484818

rs_1085308049

4 SubmittersRCV000490615 RCV003238763 RCV003449266

NM_000314.8(PTEN):c.1027-2A>G

SNV
Germline

Chr10:87965285

Pathogenic/Likely pathogenic

PTEN hamartoma tumor syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Cowden syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA377487088

rs_1085308041

8 SubmittersRCV000490606 RCV000491514 RCV000522568 RCV003449264

NM_000314.8(PTEN):c.165-1G>C

SNV
Germline

Chr10:87925512

Pathogenic

Cowden syndrome 1
Hereditary cancer-predisposing syndrome
PTEN hamartoma tumor syndrome
Condition: not provided
Cowden syndrome

Reviewed By Expert Panel

CA377784976

rs_786203847

7 SubmittersRCV000516009 RCV001525989 RCV001172259 RCV003311827 RCV003492075

NM_000314.8(PTEN):c.209+5G>A

SNV
Germline

Chr10:87925562

Pathogenic

Hereditary cancer-predisposing syndrome
Cowden syndrome 1
PTEN hamartoma tumor syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA645369431

rs_1114167650

5 SubmittersRCV000491938 RCV000516142 RCV001050316 RCV001358192

NM_000314.8(PTEN):c.210-1G>A

SNV
Germline/somatic

Chr10:87931045

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Cowden syndrome 1
PTEN hamartoma tumor syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA377481229

rs_1114167621

7 SubmittersRCV000507780 RCV000491234 RCV000515846 RCV000645050

NM_000314.8(PTEN):c.253+5G>A

SNV
Germline/somatic

Chr10:87931094

Likely pathogenic

Cowden syndrome 1
PTEN hamartoma tumor syndrome
Glioma susceptibility 2
Condition: not provided
Neoplasm
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA658656081

rs_1554897889

7 SubmittersRCV000515980 RCV000703616 RCV003464040 RCV003321636 RCV004669001 RCV004943927

NM_000314.8(PTEN):c.253+5G>T

SNV
Germline

Chr10:87931094

Pathogenic/Likely pathogenic

PTEN hamartoma tumor syndrome
Cowden syndrome 1
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA645553783

rs_1554897889

6 SubmittersRCV000684984 RCV000515839 RCV001800709 RCV004659070

NM_000314.8(PTEN):c.492+1G>T

SNV
Germline

Chr10:87933252

Pathogenic

Cowden syndrome 1
PTEN hamartoma tumor syndrome
Condition: not provided
Familial meningioma
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA377482840

rs_1554898242

8 SubmittersRCV000516072 RCV001172261 RCV003326441 RCV001292844 RCV002350095

NM_000314.8(PTEN):c.634+1G>C

SNV
Germline

Chr10:87952260

Pathogenic

Hereditary cancer-predisposing syndrome
Cowden syndrome 1
PTEN hamartoma tumor syndrome
PTEN-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA377484725

rs_1114167622

4 SubmittersRCV000490911 RCV000515962 RCV001053483 RCV004527598

NM_000314.8(PTEN):c.634+2T>C

SNV
Germline

Chr10:87952261

Pathogenic

Cowden syndrome 1
PTEN hamartoma tumor syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA377484731

rs_727504114

3 SubmittersRCV000516099 RCV001172260 RCV002356807

NM_000314.8(PTEN):c.634+4A>T

SNV
Germline

Chr10:87952263

Pathogenic

Cowden syndrome 1

No Assertion Criteria Provided

CA658656106

rs_1554900675

1 SubmittersRCV000515852

NM_000314.8(PTEN):c.634+5G>C

SNV
Germline

Chr10:87952264

Pathogenic

not specified
Cowden syndrome 1
PTEN hamartoma tumor syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA645509438

rs_138336847

5 SubmittersRCV000507258 RCV000515997 RCV000790888 RCV002367668

NM_000314.8(PTEN):c.1027-2A>C

SNV
Germline

Chr10:87965285

Pathogenic

not specified
Cowden syndrome 1
PTEN hamartoma tumor syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA377487087

rs_1085308041

4 SubmittersRCV000506504 RCV000516120 RCV001214733

NM_000314.8(PTEN):c.104T>C (p.Met35Thr)

SNV
Germline

Chr10:87894049

Likely pathogenic

Hereditary cancer-predisposing syndrome
Cowden syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA377784464

rs_121909225

2 SubmittersRCV000491217 RCV003449274

NM_000314.8(PTEN):c.195C>A (p.Tyr65Ter)

SNV
Germline

Chr10:87925543

Pathogenic

Hereditary cancer-predisposing syndrome
PTEN hamartoma tumor syndrome
Cowden syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA377785045

rs_878853936

4 SubmittersRCV000490865 RCV001856938 RCV003449279

NM_000314.8(PTEN):c.210-1G>C

SNV
Germline/somatic

Chr10:87931045

Likely pathogenic

Hereditary cancer-predisposing syndrome
Cowden syndrome 1
Neoplasm

Criteria Provided
Multiple Submitters
No Conflicts

CA377481230

rs_1114167621

3 SubmittersRCV000491942 RCV003449277 RCV004669003

NM_000314.8(PTEN):c.328C>T (p.Gln110Ter)

SNV
Germline

Chr10:87933087

Pathogenic

Hereditary cancer-predisposing syndrome
PTEN hamartoma tumor syndrome
Cowden syndrome 1
Glioma susceptibility 2

Criteria Provided
Multiple Submitters
No Conflicts

CA377482195

rs_1114167629

5 SubmittersRCV000491715 RCV000537933 RCV003338616 RCV003470597

NM_000314.8(PTEN):c.367C>G (p.His123Asp)

SNV
Germline

Chr10:87933126

Pathogenic

Hereditary cancer-predisposing syndrome
PTEN hamartoma tumor syndrome
Cowden syndrome 1

Reviewed By Expert Panel

CA377482278

rs_786204931

4 SubmittersRCV000491887 RCV000693998 RCV001332360

NM_000314.8(PTEN):c.404T>A (p.Ile135Lys)

SNV
Germline

Chr10:87933163

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Macrocephaly-autism syndrome
Glioma susceptibility 2
Cowden syndrome 1
Familial meningioma
Malignant tumor of prostate

Criteria Provided
Multiple Submitters
No Conflicts

CA377482344

rs_370795352

2 SubmittersRCV000490950 RCV002475968

NM_000314.8(PTEN):c.463T>C (p.Tyr155His)

SNV
Germline

Chr10:87933222

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Cowden syndrome 1
Macrocephaly-autism syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA377482775

rs_398123325

3 SubmittersRCV000490957 RCV003449273 RCV003447532

NM_000314.8(PTEN):c.493G>A (p.Gly165Arg)

SNV
Germline/somatic

Chr10:87952118

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
PTEN hamartoma tumor syndrome
Cowden syndrome 1
Glioma susceptibility 2
Malignant tumor of urinary bladder

Reviewed By Expert Panel

CA377484223

rs_587782603

7 SubmittersRCV000491530 RCV000522601 RCV000690443 RCV003139692 RCV004568616 RCV003332184

NM_000314.8(PTEN):c.830C>G (p.Thr277Arg)

SNV
Germline

Chr10:87960922

Likely pathogenic

Hereditary cancer-predisposing syndrome
PTEN hamartoma tumor syndrome
Cowden syndrome 1

Reviewed By Expert Panel

CA377485523

rs_398123329

4 SubmittersRCV000491643 RCV000536465 RCV003449278

NM_000314.8(PTEN):c.865A>T (p.Lys289Ter)

SNV
Germline

Chr10:87960957

Pathogenic

Hereditary cancer-predisposing syndrome
Cowden syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA377485648

rs_562015640

2 SubmittersRCV000491183 RCV001289559

NM_000314.8(PTEN):c.895G>T (p.Glu299Ter)

SNV
Germline

Chr10:87960987

Pathogenic

Hereditary cancer-predisposing syndrome
Cowden syndrome 1
PTEN hamartoma tumor syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA377485762

rs_1114167674

3 SubmittersRCV000491945 RCV003139693 RCV002527059

NM_000314.8(PTEN):c.959T>G (p.Leu320Ter)

SNV
Germline

Chr10:87961051

Pathogenic

Hereditary cancer-predisposing syndrome
Macrocephaly-autism syndrome
PTEN hamartoma tumor syndrome
Gastric cancer
Cowden syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA377485997

rs_1114167667

5 SubmittersRCV000491324 RCV000995618 RCV001856937 RCV003159592 RCV003449276

NM_000314.8(PTEN):c.1026+2T>G

SNV
Germline/somatic

Chr10:87961120

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
PTEN hamartoma tumor syndrome
Condition: not provided
Cowden syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA377486192

rs_1114167624

4 SubmittersRCV000491037 RCV000802995 RCV001528106 RCV003449272

NM_003002.4(SDHD):c.314G>A (p.Trp105Ter)

SNV
Germline

Chr11:112089011

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Mitochondrial complex 2 deficiency, nuclear type 3
Cowden syndrome 3
Carney-Stratakis syndrome
Paragangliomas with sensorineural hearing loss
Pheochromocytoma
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA382617436

rs_1131691065

4 SubmittersRCV000492092 RCV002291278 RCV002527068 RCV004822076

NM_000314.8(PTEN):c.487A>T (p.Lys163Ter)

SNV
Germline

Chr10:87933246

Pathogenic/Likely pathogenic

Condition: not provided
Cowden syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA377482826

rs_1554898235

2 SubmittersRCV000497908 RCV003449392

NM_003002.4(SDHD):c.148C>G (p.His50Asp)

SNV
Germline

Chr11:112087952

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary pheochromocytoma-paraganglioma
Hereditary cancer-predisposing syndrome
Cowden syndrome 3
Carney-Stratakis syndrome
Paragangliomas with sensorineural hearing loss
Pheochromocytoma

Criteria Provided
Conflicting Classifications

CA382617089

rs_779249550

5 SubmittersRCV000497964 RCV000505346 RCV000569506 RCV002230973

NM_003002.4(SDHD):c.170-1G>T

SNV
Germline

Chr11:112088866

Pathogenic

Hereditary pheochromocytoma-paraganglioma
Hereditary cancer-predisposing syndrome
Carney-Stratakis syndrome
Pheochromocytoma
Paragangliomas with sensorineural hearing loss
Cowden syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

CA382617149

rs_1306475361

4 SubmittersRCV000505295 RCV002413385 RCV002524414

NM_003002.4(SDHD):c.239T>G (p.Leu80Arg)

SNV
Germline

Chr11:112088936

Pathogenic

Hereditary pheochromocytoma-paraganglioma
Carney-Stratakis syndrome
Pheochromocytoma
Paragangliomas with sensorineural hearing loss
Cowden syndrome 3

Criteria Provided
Single Submitter

CA382617293

rs_1555187010

2 SubmittersRCV000505381 RCV001857228

NM_003002.4(SDHD):c.314+1G>A

SNV
Germline

Chr11:112089012

Pathogenic

Hereditary pheochromocytoma-paraganglioma
Hereditary cancer-predisposing syndrome
Carney-Stratakis syndrome
Pheochromocytoma
Paragangliomas with sensorineural hearing loss
Cowden syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

CA382617441

rs_1555187083

3 SubmittersRCV000505333 RCV001018787 RCV002524415

NM_003002.4(SDHD):c.342T>A (p.Tyr114Ter)

SNV
Germline

Chr11:112094832

Pathogenic

Hereditary pheochromocytoma-paraganglioma
not specified
Hereditary cancer-predisposing syndrome
Carney-Stratakis syndrome
Pheochromocytoma
Paragangliomas with sensorineural hearing loss
Cowden syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

CA382618852

rs_1050032491

4 SubmittersRCV000505385 RCV001000118 RCV002341190 RCV002524416

NM_000314.8(PTEN):c.635-1G>T

SNV
Germline

Chr10:87957852

Pathogenic/Likely pathogenic

not specified
PTEN hamartoma tumor syndrome
Hereditary cancer-predisposing syndrome
Cowden syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA377484747

rs_876661024

4 SubmittersRCV000507343 RCV001067779 RCV002367698 RCV003449453

NM_006218.4(PIK3CA):c.211G>A (p.Val71Ile)

SNV
Germline

Chr3:179199036

Conflicting classifications of pathogenicity

Cowden syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2710510

rs_201269904

2 SubmittersRCV000529008 RCV002528307

NM_000314.8(PTEN):c.204C>G (p.Tyr68Ter)

SNV
Germline

Chr10:87925552

Pathogenic

PTEN hamartoma tumor syndrome
Hereditary cancer-predisposing syndrome
Cowden syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA377785065

rs_773176120

3 SubmittersRCV000531588 RCV001014236 RCV003451169

NM_000314.8(PTEN):c.259C>T (p.Gln87Ter)

SNV
Germline

Chr10:87933018

Pathogenic/Likely pathogenic

PTEN hamartoma tumor syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Cowden syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA377482046

rs_1554898053

4 SubmittersRCV000548017 RCV000568459 RCV003321657 RCV003451170

NM_000314.8(PTEN):c.493-2A>C

SNV
Germline

Chr10:87952116

Pathogenic/Likely pathogenic

PTEN hamartoma tumor syndrome
Hereditary cancer-predisposing syndrome
Cowden syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA377484214

rs_587781784

3 SubmittersRCV000547779 RCV003362841 RCV003451172

NM_003002.4(SDHD):c.228C>T (p.Leu76=)

SNV
Germline

Chr11:112088925

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Hereditary pheochromocytoma-paraganglioma
Carney-Stratakis syndrome
Pheochromocytoma
Paragangliomas with sensorineural hearing loss
Cowden syndrome 3

Criteria Provided
Conflicting Classifications

CA070883

rs_148634289

4 SubmittersRCV000563638 RCV001106324 RCV002231787

NM_000314.8(PTEN):c.625G>T (p.Gly209Ter)

SNV
Germline

Chr10:87952250

Pathogenic

PTEN hamartoma tumor syndrome
Cowden syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA377484690

rs_765433422

2 SubmittersRCV000543987 RCV003451173

NM_003002.4(SDHD):c.413G>T (p.Gly138Val)

SNV
Germline

Chr11:112094903

Conflicting classifications of pathogenicity

Carney-Stratakis syndrome
Paragangliomas with sensorineural hearing loss
Pheochromocytoma
Cowden syndrome 3
Hereditary pheochromocytoma-paraganglioma

Criteria Provided
Conflicting Classifications

CA382619290

rs_1401695686

2 SubmittersRCV002526127 RCV003999154

NM_001382430.1(AKT1):c.174G>A (p.Ala58=)

SNV
Germline

Chr14:104780089

Conflicting classifications of pathogenicity

Cowden syndrome 6
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7374890

rs_560243859

2 SubmittersRCV000555260 RCV002404539

NM_000314.8(PTEN):c.203A>C (p.Tyr68Ser)

SNV
Germline

Chr10:87925551

Likely pathogenic

Hereditary cancer-predisposing syndrome
Cowden syndrome 1

Criteria Provided
Single Submitter

CA377785062

rs_876660634

2 SubmittersRCV000561145 RCV001028048

NM_000314.8(PTEN):c.319G>T (p.Asp107Tyr)

SNV
Germline

Chr10:87933078

Pathogenic

Hereditary cancer-predisposing syndrome
PTEN hamartoma tumor syndrome
Cowden syndrome 1

Reviewed By Expert Panel

CA377482178

rs_57374291

4 SubmittersRCV000570318 RCV000690305 RCV003451267

NM_000314.8(PTEN):c.333G>A (p.Trp111Ter)

SNV
Germline

Chr10:87933092

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Cowden syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA377482210

rs_1554898097

3 SubmittersRCV000571971 RCV003225092 RCV003451265

NM_000314.8(PTEN):c.1A>G (p.Met1Val)

SNV
Germline

Chr10:87864470

Pathogenic

Hereditary cancer-predisposing syndrome
PTEN hamartoma tumor syndrome
Condition: not provided
Cowden syndrome 1

Reviewed By Expert Panel

CA377781751

rs_1554890324

5 SubmittersRCV000572416 RCV000706088 RCV001562180 RCV003451264

NM_000314.8(PTEN):c.1027-1G>C

SNV
Germline

Chr10:87965286

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Cowden syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA377487091

rs_1057517809

2 SubmittersRCV000561292 RCV003451237

NM_000314.8(PTEN):c.107G>A (p.Gly36Glu)

SNV
Germline

Chr10:87894052

Pathogenic

Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
PTEN hamartoma tumor syndrome
Cowden syndrome 1

Reviewed By Expert Panel

CA377784477

rs_1554893792

5 SubmittersRCV000565926 RCV001251390 RCV001559024 RCV003451292 RCV003451291

NM_000314.8(PTEN):c.1008C>G (p.Tyr336Ter)

SNV
Germline

Chr10:87961100

Pathogenic

Hereditary cancer-predisposing syndrome
PTEN hamartoma tumor syndrome
Cowden syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA377486136

rs_786201816

4 SubmittersRCV000574485 RCV000703842 RCV003451238

NM_003002.4(SDHD):c.314+1G>T

SNV
Germline

Chr11:112089012

Pathogenic

Hereditary cancer-predisposing syndrome
Pheochromocytoma
Paragangliomas with sensorineural hearing loss
Cowden syndrome 3
Carney-Stratakis syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA382617440

rs_1555187083

2 SubmittersRCV000570334 RCV002231524

NM_003002.4(SDHD):c.314+3A>C

SNV
Germline

Chr11:112089014

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Pheochromocytoma
Paragangliomas with sensorineural hearing loss
Carney-Stratakis syndrome
Cowden syndrome 3
Hereditary pheochromocytoma-paraganglioma

Criteria Provided
Conflicting Classifications

CA658658106

rs_1555187084

3 SubmittersRCV000566193 RCV002526918 RCV004802240

NM_003002.4(SDHD):c.317G>T (p.Gly106Val)

SNV
Germline

Chr11:112094807

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Paragangliomas 1
Pheochromocytoma
Paragangliomas with sensorineural hearing loss
Cowden syndrome 3
Carney-Stratakis syndrome
SDHD-related disorder
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA382618730

rs_1555187574

5 SubmittersRCV000561906 RCV000660262 RCV002232089 RCV003420005 RCV004808786

NM_000314.8(PTEN):c.287C>G (p.Pro96Arg)

SNV
Germline

Chr10:87933046

Pathogenic/Likely pathogenic

not specified
PTEN hamartoma tumor syndrome
Cowden syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA377482109

rs_1554898074

4 SubmittersRCV000582597 RCV001360366 RCV003451321 RCV004944015

NM_000314.8(PTEN):c.565A>T (p.Arg189Ter)

SNV
Germline

Chr10:87952190

Pathogenic

Condition: not provided
Cowden syndrome 1
Glioma susceptibility 2
PTEN hamartoma tumor syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA377484465

rs_1554900615

4 SubmittersRCV000584402 RCV003451322 RCV003465315 RCV002530820

NM_000314.8(PTEN):c.19G>T (p.Glu7Ter)

SNV
Germline

Chr10:87864488

Pathogenic

Condition: not provided
Cowden syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA377781832

rs_1554890335

2 SubmittersRCV000585486 RCV003451323

NM_000314.8(PTEN):c.1021T>G (p.Phe341Val)

SNV
Germline

Chr10:87961113

Conflicting classifications of pathogenicity

Condition: not provided
Cowden syndrome 1

Criteria Provided
Conflicting Classifications

CA377486165

rs_1554825652

2 SubmittersRCV000588249 RCV003451331

NM_001382430.1(AKT1):c.957+3G>A

SNV
Germline

Chr14:104773248

Conflicting classifications of pathogenicity

not specified
Cowden syndrome 6

Criteria Provided
Conflicting Classifications

CA658798276

rs_1219173005

2 SubmittersRCV000606636 RCV001229553

NM_006218.4(PIK3CA):c.178C>A (p.Gln60Lys)

SNV
Germline

Chr3:179199003

Conflicting classifications of pathogenicity

Cowden syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2710504

rs_71310379

3 SubmittersRCV000631212 RCV000998159

NM_000314.8(PTEN):c.48T>G (p.Tyr16Ter)

SNV
Germline/somatic

Chr10:87864517

Pathogenic

PTEN hamartoma tumor syndrome
Familial meningioma
Cowden syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA377781944

rs_587782187

7 SubmittersRCV000645066 RCV001195980 RCV001809711 RCV002334144

NM_006363.6(SEC23B):c.1404+5G>A

SNV
Germline

Chr20:18535747

Likely pathogenic

Cowden syndrome 7
Congenital dyserythropoietic anemia, type II

Criteria Provided
Single Submitter

CA658799346

rs_1555789463

1 SubmittersRCV000638849

NM_006363.6(SEC23B):c.1317G>T (p.Glu439Asp)

SNV
Germline

Chr20:18535655

Conflicting classifications of pathogenicity

Cowden syndrome 7
Congenital dyserythropoietic anemia, type II
Condition: not provided
SEC23B-related disorder

Criteria Provided
Conflicting Classifications

CA9778320

rs_147410912

4 SubmittersRCV000638851 RCV001509052 RCV004737916

NM_000314.8(PTEN):c.228T>G (p.Tyr76Ter)

SNV
Germline

Chr10:87931064

Pathogenic

Condition: not provided
Cowden syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1554897866

2 SubmittersRCV000657765 RCV003451610

NM_000314.8(PTEN):c.264T>A (p.Tyr88Ter)

SNV
Germline

Chr10:87933023

Pathogenic

Condition: not provided
PTEN hamartoma tumor syndrome
Hereditary cancer-predisposing syndrome
Cowden syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1554898056

4 SubmittersRCV000657581 RCV001855357 RCV004026011 RCV003451601

NM_000314.8(PTEN):c.414T>G (p.Tyr138Ter)

SNV
Germline

Chr10:87933173

Pathogenic

Condition: not provided
PTEN hamartoma tumor syndrome
Cowden syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1554898161

3 SubmittersRCV000657582 RCV000699906 RCV003451602

NM_000314.8(PTEN):c.464A>C (p.Tyr155Ser)

SNV
Germline

Chr10:87933223

Likely pathogenic

Cowden syndrome 1

Criteria Provided
Single Submitter

rs_1060500126

1 SubmittersRCV000660235

NM_006218.4(PIK3CA):c.817A>G (p.Ile273Val)

SNV
Germline

Chr3:179203547

Conflicting classifications of pathogenicity

Cowden syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_765030404

2 SubmittersRCV000692375 RCV002532213

NM_003002.4(SDHD):c.3G>A (p.Met1Ile)

SNV
Germline

Chr11:112086910

Pathogenic

Carney-Stratakis syndrome
Pheochromocytoma
Cowden syndrome 3
Paragangliomas with sensorineural hearing loss
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_80338842

2 SubmittersRCV002232947 RCV002369946

NM_003002.4(SDHD):c.416T>G (p.Leu139Arg)

SNV
Germline

Chr11:112094906

Likely pathogenic

Carney-Stratakis syndrome
Paragangliomas with sensorineural hearing loss
Pheochromocytoma
Cowden syndrome 3

Criteria Provided
Single Submitter

rs_80338847

1 SubmittersRCV002532294

NM_000314.8(PTEN):c.508A>C (p.Ser170Arg)

SNV
Germline

Chr10:87952133

Pathogenic

PTEN hamartoma tumor syndrome
Hereditary cancer-predisposing syndrome
Cowden syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1554900534

3 SubmittersRCV000689896 RCV002343451 RCV003453439

NM_003002.4(SDHD):c.351G>T (p.Gly117=)

SNV
Germline

Chr11:112094841

Conflicting classifications of pathogenicity

Carney-Stratakis syndrome
Paragangliomas with sensorineural hearing loss
Pheochromocytoma
Cowden syndrome 3
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1566702512

2 SubmittersRCV002547102 RCV003389826

NM_000314.8(PTEN):c.755A>T (p.Asp252Val)

SNV
Germline

Chr10:87957973

Pathogenic/Likely pathogenic

PTEN hamartoma tumor syndrome
Hereditary cancer-predisposing syndrome
Cowden syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_121909239

3 SubmittersRCV000698131 RCV002388286 RCV003479201

NM_000314.8(PTEN):c.959T>A (p.Leu320Ter)

SNV
Germline

Chr10:87961051

Pathogenic

PTEN hamartoma tumor syndrome
Cowden syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1114167667

3 SubmittersRCV000698110 RCV003453474 RCV004026431

NM_000314.8(PTEN):c.144C>A (p.Asn48Lys)

SNV
Germline

Chr10:87894089

Pathogenic/Likely pathogenic

PTEN hamartoma tumor syndrome
Hereditary cancer-predisposing syndrome
Glioma susceptibility 2
Cowden syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_762518389

5 SubmittersRCV000704361 RCV001011640 RCV003465631 RCV003453494

NM_000314.8(PTEN):c.210-2A>G

SNV
Germline/somatic

Chr10:87931044

Pathogenic/Likely pathogenic

PTEN hamartoma tumor syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Cowden syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1564828914

4 SubmittersRCV000698937 RCV001542802 RCV002422549 RCV003229600

NM_000314.8(PTEN):c.385G>C (p.Gly129Arg)

SNV
Germline

Chr10:87933144

Pathogenic

Cowden syndrome 1
Hereditary cancer-predisposing syndrome
PTEN hamartoma tumor syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_786204929

3 SubmittersRCV000991299 RCV002354897 RCV001257205

NM_006363.6(SEC23B):c.1507C>T (p.Arg503Ter)

SNV
Germline

Chr20:18542398

Pathogenic/Likely pathogenic

Congenital dyserythropoietic anemia, type II
Cowden syndrome 7
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1568617456

2 SubmittersRCV000691489 RCV002269303

NM_001382430.1(AKT1):c.176-5C>T

SNV
Germline

Chr14:104776775

Conflicting classifications of pathogenicity

Cowden syndrome 6
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_377076374

2 SubmittersRCV000706963 RCV004692197

NM_006363.6(SEC23B):c.1665+6T>C

SNV
Germline

Chr20:18543178

Conflicting classifications of pathogenicity

Cowden syndrome 7
Congenital dyserythropoietic anemia, type II
Congenital dyserythropoietic anemia, type II
Condition: not provided
SEC23B-related disorder

Criteria Provided
Conflicting Classifications

rs_371786580

5 SubmittersRCV000692503 RCV001141559 RCV001811442 RCV004737954

NM_003000.3(SDHB):c.769C>G (p.Leu257Val)

SNV
Germline

Chr1:17018955

Conflicting classifications of pathogenicity

Cowden syndrome
Paragangliomas 4
Gastrointestinal stromal tumor
Pheochromocytoma
Mitochondrial complex 2 deficiency, nuclear type 4
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_761350633

5 SubmittersRCV000708779 RCV000819850 RCV001310279 RCV002268269 RCV004659188

NM_000314.8(PTEN):c.209+2T>C

SNV
Germline

Chr10:87925559

Pathogenic/Likely pathogenic

PTEN hamartoma tumor syndrome
Familial meningioma
Condition: not provided
Cowden syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_878853937

5 SubmittersRCV000709130 RCV001195751 RCV001546761 RCV003141713

NM_000314.8(PTEN):c.635-2A>G

SNV
Germline

Chr10:87957851

Pathogenic/Likely pathogenic

Condition: not provided
PTEN hamartoma tumor syndrome
Cowden syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1564566706

5 SubmittersRCV000729356 RCV000792482 RCV003453520

NM_000314.8(PTEN):c.654C>A (p.Cys218Ter)

SNV
Germline

Chr10:87957872

Pathogenic

Cowden syndrome 1
Condition: not provided
PTEN hamartoma tumor syndrome
Cowden syndrome 1
Glioma susceptibility 2
Macrocephaly-autism syndrome
Familial prostate cancer
Familial meningioma

Criteria Provided
Multiple Submitters
No Conflicts

rs_1554825165

5 SubmittersRCV000778090 RCV003222126 RCV003509605 RCV004796303

NM_006363.6(SEC23B):c.1201C>T (p.Arg401Ter)

SNV
Germline

Chr20:18530771

Conflicting classifications of pathogenicity

Cowden syndrome 7
Congenital dyserythropoietic anemia, type II
Congenital dyserythropoietic anemia, type II
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1403456625

4 SubmittersRCV003768444 RCV000779340 RCV001509050

NM_000314.8(PTEN):c.1026+1G>T

SNV
Germline

Chr10:87961119

Pathogenic/Likely pathogenic

Condition: not provided
PTEN hamartoma tumor syndrome
Cowden syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_786201041

4 SubmittersRCV000786804 RCV001220442 RCV003453623

NM_000314.8(PTEN):c.1027-2A>T

SNV
Unknown

Chr10:87965285

Likely pathogenic

Cowden syndrome 1
Condition: not provided

Criteria Provided
Single Submitter

rs_1085308041

2 SubmittersRCV003453622 RCV000786803

NM_006218.4(PIK3CA):c.3197C>T (p.Ala1066Val)

SNV
Germline

Chr3:179234354

Conflicting classifications of pathogenicity

Cowden syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1253171657

2 SubmittersRCV000803359 RCV001772073

NM_000314.8(PTEN):c.277C>T (p.His93Tyr)

SNV
Germline

Chr10:87933036

Pathogenic/Likely pathogenic

PTEN hamartoma tumor syndrome
Hereditary cancer-predisposing syndrome
Cowden syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_786204927

3 SubmittersRCV000801387 RCV002440676 RCV003453667

NM_003002.4(SDHD):c.119T>C (p.Ile40Thr)

SNV
Germline

Chr11:112087923

Conflicting classifications of pathogenicity

Paragangliomas with sensorineural hearing loss
Pheochromocytoma
Cowden syndrome 3
Carney-Stratakis syndrome
Hereditary cancer-predisposing syndrome
Mitochondrial complex 2 deficiency, nuclear type 3
Hereditary pheochromocytoma-paraganglioma

Criteria Provided
Conflicting Classifications

rs_1592778916

4 SubmittersRCV002535923 RCV004027515 RCV004569534 RCV004803220

NM_003002.4(SDHD):c.232G>C (p.Gly78Arg)

SNV
Germline

Chr11:112088929

Conflicting classifications of pathogenicity

Cowden syndrome 3
Carney-Stratakis syndrome
Pheochromocytoma
Paragangliomas 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1592780479

2 SubmittersRCV000811684 RCV004028737

NM_003002.4(SDHD):c.243G>A (p.Pro81=)

SNV
Germline

Chr11:112088940

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Paragangliomas with sensorineural hearing loss
Pheochromocytoma
Carney-Stratakis syndrome
Cowden syndrome 3

Criteria Provided
Conflicting Classifications

rs_575262156

3 SubmittersRCV001015544 RCV000986021 RCV002235584

NM_003002.4(SDHD):c.305A>G (p.His102Arg)

SNV
Germline

Chr11:112089002

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Paragangliomas with sensorineural hearing loss
Cowden syndrome 3
Carney-Stratakis syndrome
Pheochromocytoma
Paragangliomas 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_104894302

3 SubmittersRCV001018360 RCV002538159 RCV004028788

NM_006363.6(SEC23B):c.985G>T (p.Ala329Ser)

SNV
Germline

Chr20:18526523

Conflicting classifications of pathogenicity

Congenital dyserythropoietic anemia, type II
Cowden syndrome 7
Cowden syndrome 7
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_143417821

3 SubmittersRCV000794676 RCV001772048 RCV004692261

NM_006218.4(PIK3CA):c.2937-3T>C

SNV
Germline

Chr3:179234091

Conflicting classifications of pathogenicity

Cowden syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_760056670

2 SubmittersRCV000813809 RCV003437435

NM_003002.4(SDHD):c.52+2T>C

SNV
Germline

Chr11:112086961

Pathogenic

Carney-Stratakis syndrome
Paragangliomas with sensorineural hearing loss
Pheochromocytoma
Cowden syndrome 3

Criteria Provided
Single Submitter

rs_587776644

1 SubmittersRCV002537516

NM_000314.8(PTEN):c.802-1G>A

SNV
Germline

Chr10:87960893

Pathogenic/Likely pathogenic

Macrocephaly-autism syndrome
PTEN hamartoma tumor syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Cowden syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1257124719

5 SubmittersRCV000850161 RCV001211799 RCV001572487 RCV003169079 RCV003453773

NM_003002.4(SDHD):c.340T>C (p.Tyr114His)

SNV
Germline

Chr11:112094830

Conflicting classifications of pathogenicity

Pheochromocytoma
Cowden syndrome 3
Pheochromocytoma
Carney-Stratakis syndrome
Paragangliomas with sensorineural hearing loss
Hereditary pheochromocytoma-paraganglioma

Criteria Provided
Conflicting Classifications

rs_876659276

3 SubmittersRCV000856585 RCV002536208 RCV004002908

NM_006363.6(SEC23B):c.1512-10G>T

SNV
Germline

Chr20:18543009

Conflicting classifications of pathogenicity

not specified
Congenital dyserythropoietic anemia, type II
Cowden syndrome 7
SEC23B-related disorder

Criteria Provided
Conflicting Classifications

rs_770601333

3 SubmittersRCV001001163 RCV002539253 RCV004549995

NM_006363.6(SEC23B):c.1743+168A>G

SNV
Germline

Chr20:18546201

Conflicting classifications of pathogenicity

Cowden syndrome 7
Congenital dyserythropoietic anemia, type II
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_111951711

5 SubmittersRCV000877909 RCV001509054

NM_006363.6(SEC23B):c.1527G>A (p.Gln509=)

SNV
Germline

Chr20:18543034

Conflicting classifications of pathogenicity

Congenital dyserythropoietic anemia, type II
Congenital dyserythropoietic anemia, type II
Cowden syndrome 7

Criteria Provided
Conflicting Classifications

rs_201943863

2 SubmittersRCV001138958 RCV002545986

NM_006363.6(SEC23B):c.1595G>C (p.Gly532Ala)

SNV
Germline

Chr20:18543102

Conflicting classifications of pathogenicity

Congenital dyserythropoietic anemia, type II
Cowden syndrome 7
Condition: not provided
SEC23B-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_143456757

5 SubmittersRCV000945878 RCV002227230 RCV004553382 RCV004659276

NM_006363.6(SEC23B):c.2031G>A (p.Met677Ile)

SNV
Germline

Chr20:18554273

Conflicting classifications of pathogenicity

Congenital dyserythropoietic anemia, type II
Cowden syndrome 7
Congenital dyserythropoietic anemia, type II
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_202187007

3 SubmittersRCV000946264 RCV001141560 RCV004792585

NM_006363.6(SEC23B):c.1380C>A (p.Gly460=)

SNV
Germline

Chr20:18535718

Conflicting classifications of pathogenicity

Congenital dyserythropoietic anemia, type II
Congenital dyserythropoietic anemia, type II
Cowden syndrome 7

Criteria Provided
Conflicting Classifications

rs_201656419

2 SubmittersRCV001136712 RCV003768893

NM_006218.4(PIK3CA):c.2597T>G (p.Leu866Trp)

SNV
Unknown

Chr3:179229373

Likely pathogenic

Cowden syndrome 1

Criteria Provided
Single Submitter

rs_1576947658

1 SubmittersRCV000987366

NM_006363.6(SEC23B):c.770C>T (p.Thr257Ile)

SNV
Germline

Chr20:18525868

Conflicting classifications of pathogenicity

Congenital dyserythropoietic anemia, type II
Cowden syndrome 7
Congenital dyserythropoietic anemia, type II
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_146917730

6 SubmittersRCV001143287 RCV001516029 RCV001619877

NM_000314.8(PTEN):c.100G>C (p.Ala34Pro)

SNV
Germline

Chr10:87894045

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Cowden syndrome 1
PTEN hamartoma tumor syndrome

Criteria Provided
Conflicting Classifications

rs_1589617199

3 SubmittersRCV001016983 RCV003316820 RCV002551798

NM_000314.8(PTEN):c.302T>C (p.Ile101Thr)

SNV
Germline

Chr10:87933061

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
PTEN hamartoma tumor syndrome
Cowden syndrome 1
Glioma susceptibility 2
Condition: not provided
PTEN hamartoma tumor syndrome
Bannayan-Riley-Ruvalcaba syndrome
Macrocephaly-autism syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1339631701

7 SubmittersRCV001018187 RCV001055467 RCV003152744 RCV003461368 RCV001547112 RCV003987762

NM_000314.8(PTEN):c.365T>G (p.Ile122Ser)

SNV
Germline

Chr10:87933124

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
PTEN hamartoma tumor syndrome
Cowden syndrome 1

Criteria Provided
Conflicting Classifications

rs_1589646321

3 SubmittersRCV001020824 RCV001214316 RCV003455115

NM_000314.8(PTEN):c.370T>A (p.Cys124Ser)

SNV
Germline

Chr10:87933129

Likely pathogenic

Hereditary cancer-predisposing syndrome
Cowden syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_121909223

2 SubmittersRCV001020946 RCV001254106

NM_000314.8(PTEN):c.510T>G (p.Ser170Arg)

SNV
Germline

Chr10:87952135

Pathogenic

Hereditary cancer-predisposing syndrome
Cowden syndrome 1
PTEN hamartoma tumor syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_121909221

4 SubmittersRCV001023564 RCV003455124 RCV003509648 RCV003478652

NM_000314.8(PTEN):c.542T>C (p.Leu181Pro)

SNV
Germline

Chr10:87952167

Pathogenic

Hereditary cancer-predisposing syndrome
PTEN hamartoma tumor syndrome
Macrocephaly-autism syndrome
Cowden syndrome 1

Reviewed By Expert Panel

rs_1589659492

5 SubmittersRCV001024095 RCV001213247 RCV001332361 RCV003455127

NM_003002.4(SDHD):c.209G>C (p.Arg70Thr)

SNV
Germline

Chr11:112088906

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Pheochromocytoma
Carney-Stratakis syndrome
Cowden syndrome 3
Paragangliomas with sensorineural hearing loss

Criteria Provided
Conflicting Classifications

rs_755047928

3 SubmittersRCV001014432 RCV001597242 RCV003769463

NM_000314.8(PTEN):c.210-2A>C

SNV
Germline

Chr10:87931044

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
PTEN hamartoma tumor syndrome
Cowden syndrome 1
PTEN-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_1564828914

4 SubmittersRCV001014443 RCV001035561 RCV003455084 RCV004536049

NM_000314.8(PTEN):c.493-1G>C

SNV
Germline

Chr10:87952117

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Cowden syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_786204862

3 SubmittersRCV001023286 RCV003332284 RCV003455123

NM_000314.8(PTEN):c.802-1G>T

SNV
Germline

Chr10:87960893

Pathogenic

Hereditary cancer-predisposing syndrome
PTEN hamartoma tumor syndrome
Cowden syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1257124719

3 SubmittersRCV001027078 RCV001385103 RCV003316824

NM_003002.4(SDHD):c.52+1G>A

SNV
Germline

Chr11:112086960

Pathogenic

Hereditary cancer-predisposing syndrome
Pheochromocytoma
Carney-Stratakis syndrome
Cowden syndrome 3
Paragangliomas with sensorineural hearing loss

Criteria Provided
Multiple Submitters
No Conflicts

rs_1592777386

2 SubmittersRCV001023716 RCV001873376

NM_000314.8(PTEN):c.386G>T (p.Gly129Val)

SNV
Germline

Chr10:87933145

Pathogenic/Likely pathogenic

PTEN hamartoma tumor syndrome
Hereditary cancer-predisposing syndrome
Cowden syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_121909218

3 SubmittersRCV001061416 RCV002355068 RCV003455279

NM_000314.8(PTEN):c.394G>A (p.Gly132Ser)

SNV
Germline

Chr10:87933153

Pathogenic/Likely pathogenic

PTEN hamartoma tumor syndrome
Condition: not provided
Macrocephaly-autism syndrome
Cowden syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1859977029

4 SubmittersRCV001062336 RCV001819787 RCV002274130 RCV003336301

NM_000314.8(PTEN):c.494G>A (p.Gly165Glu)

SNV
Germline

Chr10:87952119

Conflicting classifications of pathogenicity

PTEN hamartoma tumor syndrome
Cowden syndrome 1

Criteria Provided
Conflicting Classifications

rs_786204863

2 SubmittersRCV001047166 RCV002471014

NM_003002.4(SDHD):c.91A>G (p.Ile31Val)

SNV
Germline

Chr11:112087895

Conflicting classifications of pathogenicity

Hereditary pheochromocytoma-paraganglioma
Hereditary cancer-predisposing syndrome
not specified
Paragangliomas with sensorineural hearing loss
Carney-Stratakis syndrome
Pheochromocytoma
Cowden syndrome 3

Criteria Provided
Conflicting Classifications

rs_1865653068

4 SubmittersRCV004000160 RCV002374977 RCV003151276 RCV002240532

NM_003002.4(SDHD):c.304C>T (p.His102Tyr)

SNV
Germline

Chr11:112089001

Pathogenic/Likely pathogenic

Pheochromocytoma
Paragangliomas with sensorineural hearing loss
Cowden syndrome 3
Carney-Stratakis syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_786202403

2 SubmittersRCV002240202 RCV002445259

NM_001382430.1(AKT1):c.1005G>A (p.Leu335=)

SNV
Germline

Chr14:104773045

Conflicting classifications of pathogenicity

Cowden syndrome 6
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_758651475

2 SubmittersRCV001049600 RCV003372957

NM_006363.6(SEC23B):c.434A>G (p.Gln145Arg)

SNV
Germline

Chr20:18524500

Conflicting classifications of pathogenicity

Congenital dyserythropoietic anemia, type II
Cowden syndrome 7
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_140466726

3 SubmittersRCV001045553 RCV002553124 RCV003736965

NM_003002.4(SDHD):c.53-10C>G

SNV
Germline

Chr11:112087847

Conflicting classifications of pathogenicity

Pheochromocytoma
Cowden syndrome 3
Carney-Stratakis syndrome
Paragangliomas with sensorineural hearing loss
Hereditary pheochromocytoma-paraganglioma

Criteria Provided
Conflicting Classifications

rs_201350484

2 SubmittersRCV002240349 RCV004000090

NM_006363.6(SEC23B):c.1413C>T (p.Thr471=)

SNV
Germline

Chr20:18542304

Conflicting classifications of pathogenicity

Congenital dyserythropoietic anemia, type II
Cowden syndrome 7
Congenital dyserythropoietic anemia, type II

Criteria Provided
Conflicting Classifications

rs_900752773

2 SubmittersRCV001138956 RCV003769661

NM_006363.6(SEC23B):c.1234-11A>G

SNV
Germline

Chr20:18532653

Conflicting classifications of pathogenicity

Congenital dyserythropoietic anemia, type II
Cowden syndrome 7
Congenital dyserythropoietic anemia, type II
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_187699090

3 SubmittersRCV001136711 RCV003769645 RCV004694842

NM_000314.8(PTEN):c.888T>A (p.Cys296Ter)

SNV
Germline

Chr10:87960980

Pathogenic/Likely pathogenic

Cowden syndrome
Hereditary cancer-predisposing syndrome
Cowden syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1589665853

3 SubmittersRCV001174696 RCV002375053 RCV003449567

NM_006363.6(SEC23B):c.716A>G (p.Asp239Gly)

SNV
Germline

Chr20:18525814

Conflicting classifications of pathogenicity

Congenital dyserythropoietic anemia, type II
Congenital dyserythropoietic anemia, type II
Cowden syndrome 7

Criteria Provided
Conflicting Classifications

rs_761034212

3 SubmittersRCV001199101 RCV002559272

NM_000314.8(PTEN):c.509G>A (p.Ser170Asn)

SNV
Germline

Chr10:87952134

Likely pathogenic

PTEN hamartoma tumor syndrome
Cowden syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_876660507

2 SubmittersRCV001223749 RCV003449708

NM_003002.4(SDHD):c.305A>C (p.His102Pro)

SNV
Germline

Chr11:112089002

Likely pathogenic

Pheochromocytoma
Cowden syndrome 3
Paragangliomas with sensorineural hearing loss
Carney-Stratakis syndrome

Criteria Provided
Single Submitter

rs_104894302

1 SubmittersRCV002241296

NM_000314.8(PTEN):c.212G>A (p.Cys71Tyr)

SNV
Germline

Chr10:87931048

Pathogenic

PTEN hamartoma tumor syndrome
Cowden syndrome 1
Condition: not provided
Cowden syndrome 1
Macrocephaly-autism syndrome
Glioma susceptibility 2
Familial prostate cancer
Familial meningioma

Reviewed By Expert Panel

rs_1554897856

6 SubmittersRCV001205381 RCV003449650 RCV001812250 RCV004796372

NM_000314.8(PTEN):c.164+1G>A

SNV
Germline

Chr10:87894110

Pathogenic

PTEN hamartoma tumor syndrome
Hereditary cancer-predisposing syndrome
Cowden syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1554893835

3 SubmittersRCV001201578 RCV002402569 RCV003449641

NM_006218.4(PIK3CA):c.1026C>G (p.Thr342=)

SNV
Germline

Chr3:179203756

Conflicting classifications of pathogenicity

Cowden syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_1724483318

2 SubmittersRCV001237811 RCV002379908

NM_003002.4(SDHD):c.139C>T (p.Gln47Ter)

SNV
Germline

Chr11:112087943

Pathogenic

Condition: not provided
Pheochromocytoma
Paragangliomas with sensorineural hearing loss
Carney-Stratakis syndrome
Cowden syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

rs_1865655722

2 SubmittersRCV001565798 RCV002241480

NM_003002.4(SDHD):c.113G>A (p.Arg38Gln)

SNV
Germline

Chr11:112087917

Conflicting classifications of pathogenicity

Carney-Stratakis syndrome
Pheochromocytoma
Paragangliomas with sensorineural hearing loss
Cowden syndrome 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_199901239

2 SubmittersRCV002241639 RCV002451612

NM_000314.8(PTEN):c.269T>C (p.Phe90Ser)

SNV
Germline/somatic

Chr10:87933028

Pathogenic/Likely pathogenic

Intellectual disability
Cowden syndrome 1
PTEN hamartoma tumor syndrome
Neoplasm

Criteria Provided
Multiple Submitters
No Conflicts

rs_1859965098

4 SubmittersRCV001255368 RCV001253477 RCV003509660 RCV004671304

NM_000314.8(PTEN):c.103A>C (p.Met35Leu)

SNV
Germline

Chr10:87894048

Likely pathogenic

Cowden syndrome 1

Criteria Provided
Single Submitter

rs_876659443

1 SubmittersRCV001254105

NM_000314.8(PTEN):c.37A>G (p.Lys13Glu)

SNV
Germline

Chr10:87864506

Likely pathogenic

Cowden syndrome
PTEN hamartoma tumor syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1554890348

2 SubmittersRCV001269396 RCV002465860

NM_000314.8(PTEN):c.529T>G (p.Tyr177Asp)

SNV
Germline

Chr10:87952154

Conflicting classifications of pathogenicity

Cowden syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1860418425

2 SubmittersRCV001269398 RCV003353267

NM_000314.8(PTEN):c.827A>T (p.Asn276Ile)

SNV
Germline

Chr10:87960919

Conflicting classifications of pathogenicity

Cowden syndrome
PTEN hamartoma tumor syndrome

Criteria Provided
Conflicting Classifications

rs_1860618095

2 SubmittersRCV001269399 RCV003619741

NM_006218.4(PIK3CA):c.2592C>T (p.Gly864=)

SNV
Germline

Chr3:179229368

Conflicting classifications of pathogenicity

Cowden syndrome
Inborn genetic diseases
PIK3CA-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_780492649

4 SubmittersRCV001307339 RCV002430117 RCV004545194 RCV004692460

NM_001382430.1(AKT1):c.1173G>A (p.Arg391=)

SNV
Germline

Chr14:104772452

Conflicting classifications of pathogenicity

Cowden syndrome 6
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_889505130

2 SubmittersRCV001295011 RCV003166637

NM_003002.4(SDHD):c.180G>A (p.Lys60=)

SNV
Germline

Chr11:112088877

Conflicting classifications of pathogenicity

Paragangliomas with sensorineural hearing loss
Cowden syndrome 3
Pheochromocytoma
Carney-Stratakis syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_750688879

2 SubmittersRCV002241923 RCV002411997

NM_000314.8(PTEN):c.276C>G (p.Asp92Glu)

SNV
Germline

Chr10:87933035

Conflicting classifications of pathogenicity

PTEN hamartoma tumor syndrome
Cowden syndrome 1

Criteria Provided
Conflicting Classifications

rs_779530981

2 SubmittersRCV001347115 RCV003449974

NM_000314.8(PTEN):c.959T>C (p.Leu320Ser)

SNV
Germline

Chr10:87961051

Conflicting classifications of pathogenicity

PTEN hamartoma tumor syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Cowden syndrome 1

Criteria Provided
Conflicting Classifications

rs_1114167667

4 SubmittersRCV001347116 RCV001586139 RCV002377474 RCV003449975

NM_001382430.1(AKT1):c.954C>A (p.Pro318=)

SNV
Germline

Chr14:104773254

Conflicting classifications of pathogenicity

Cowden syndrome 6
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_746944273

2 SubmittersRCV001346452 RCV002377469

NM_006363.6(SEC23B):c.358G>A (p.Val120Met)

SNV
Germline

Chr20:18515728

Conflicting classifications of pathogenicity

Congenital dyserythropoietic anemia, type II
Cowden syndrome 7
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_372784283

3 SubmittersRCV001351710 RCV004692620

NM_006218.4(PIK3CA):c.2908G>A (p.Glu970Lys)

SNV
Germline

Chr3:179230348

Pathogenic/Likely pathogenic

Cowden syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_2108425281

2 SubmittersRCV001366657 RCV002255184

NM_000314.8(PTEN):c.752G>A (p.Gly251Asp)

SNV
Germline

Chr10:87957970

Conflicting classifications of pathogenicity

Cowden syndrome 1
Condition: not provided
Bannayan-Riley-Ruvalcaba syndrome
Cowden syndrome
PTEN hamartoma tumor syndrome

Criteria Provided
Conflicting Classifications

rs_1554825226

3 SubmittersRCV001374613 RCV001762656 RCV003223419

NM_000314.8(PTEN):c.376G>C (p.Ala126Pro)

SNV
Germline

Chr10:87933135

Pathogenic/Likely pathogenic

PTEN hamartoma tumor syndrome
Cowden syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1554898129

2 SubmittersRCV001378255 RCV003450046

NM_000314.8(PTEN):c.493G>C (p.Gly165Arg)

SNV
Germline

Chr10:87952118

Pathogenic/Likely pathogenic

PTEN hamartoma tumor syndrome
Cowden syndrome 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_587782603

4 SubmittersRCV001378791 RCV003450047 RCV004779114

NM_003002.4(SDHD):c.53-1G>T

SNV
Germline

Chr11:112087856

Likely pathogenic

Carney-Stratakis syndrome
Pheochromocytoma
Paragangliomas with sensorineural hearing loss
Cowden syndrome 3

Criteria Provided
Single Submitter

rs_1291507545

1 SubmittersRCV002242783

NM_000314.8(PTEN):c.184A>T (p.Lys62Ter)

SNV
Germline

Chr10:87925532

Pathogenic

PTEN hamartoma tumor syndrome
Cowden syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1564826779

2 SubmittersRCV001381909 RCV003992512

NM_000314.8(PTEN):c.250A>T (p.Arg84Ter)

SNV
Germline

Chr10:87931086

Pathogenic

PTEN hamartoma tumor syndrome
Hereditary cancer-predisposing syndrome
Cowden syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1554897880

3 SubmittersRCV001389652 RCV004037705 RCV003451686

NM_003002.4(SDHD):c.405C>T (p.Thr135=)

SNV
Germline

Chr11:112094895

Conflicting classifications of pathogenicity

Pheochromocytoma
Cowden syndrome 3
Carney-Stratakis syndrome
Paragangliomas with sensorineural hearing loss
Hereditary pheochromocytoma-paraganglioma
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1555187606

3 SubmittersRCV002236314 RCV004804170 RCV004590438

NM_001382430.1(AKT1):c.288-4G>T

SNV
Germline

Chr14:104775803

Conflicting classifications of pathogenicity

Cowden syndrome 6

Criteria Provided
Conflicting Classifications

rs_778501455

2 SubmittersRCV001478081

NM_006363.6(SEC23B):c.2268C>T (p.Asp756=)

SNV
Germline

Chr20:18560704

Conflicting classifications of pathogenicity

Condition: not provided
Congenital dyserythropoietic anemia, type II
Cowden syndrome 7

Criteria Provided
Conflicting Classifications

rs_530834583

2 SubmittersRCV001509057 RCV002070286

NM_000314.8(PTEN):c.83T>C (p.Ile28Thr)

SNV
Germline

Chr10:87894028

Conflicting classifications of pathogenicity

Condition: not provided
PTEN hamartoma tumor syndrome
Cowden syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1355570425

5 SubmittersRCV001553520 RCV003771693 RCV004762159 RCV004945693

NM_000314.8(PTEN):c.379G>T (p.Gly127Ter)

SNV
Germline

Chr10:87933138

Pathogenic

Condition: not provided
Cowden syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_587781255

2 SubmittersRCV001558159 RCV003451811

NM_000314.8(PTEN):c.492+1G>A

SNV
Germline/somatic

Chr10:87933252

Pathogenic/Likely pathogenic

Condition: not provided
PTEN hamartoma tumor syndrome
Cowden syndrome
Hereditary cancer-predisposing syndrome
Cowden syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1554898242

7 SubmittersRCV001585039 RCV001882705 RCV002241380 RCV002343756 RCV003451820

NM_003002.4(SDHD):c.49C>T (p.Arg17Ter)

SNV
Germline

Chr11:112086956

Pathogenic

Hereditary cancer-predisposing syndrome
Cowden syndrome 3
Carney-Stratakis syndrome
Pheochromocytoma
Paragangliomas with sensorineural hearing loss
Condition: not provided
Paragangliomas 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1314133983

5 SubmittersRCV002334687 RCV002540717 RCV003107848 RCV003451913

NM_006363.6(SEC23B):c.1385A>G (p.Tyr462Cys)

SNV
Germline

Chr20:18535723

Conflicting classifications of pathogenicity

Condition: not provided
Congenital dyserythropoietic anemia, type II
Congenital dyserythropoietic anemia, type II
Cowden syndrome 7

Criteria Provided
Conflicting Classifications

rs_780978419

6 SubmittersRCV001783720 RCV001823309 RCV003772156

NM_003002.4(SDHD):c.126A>G (p.Glu42=)

SNV
Germline

Chr11:112087930

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Cowden syndrome 3
Carney-Stratakis syndrome
Pheochromocytoma
Paragangliomas with sensorineural hearing loss

Criteria Provided
Conflicting Classifications

rs_2135267333

3 SubmittersRCV001801106 RCV002449429 RCV003772204

NM_006363.6(SEC23B):c.221+76A>G

SNV
Germline

Chr20:18511132

Conflicting classifications of pathogenicity

Condition: not provided
Congenital dyserythropoietic anemia, type II
Cowden syndrome 7

Criteria Provided
Conflicting Classifications

rs_183784857

3 SubmittersRCV001811858 RCV002074159

NM_000314.8(PTEN):c.493-1G>T

SNV
Germline

Chr10:87952117

Pathogenic/Likely pathogenic

Macrocephaly-autism syndrome
Hereditary cancer-predisposing syndrome
Cowden syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_786204862

3 SubmittersRCV001808854 RCV002334703 RCV003451954

NM_000314.8(PTEN):c.106G>A (p.Gly36Arg)

SNV
Germline

Chr10:87894051

Likely pathogenic

Macrocephaly-autism syndrome
Cowden syndrome 1
PTEN hamartoma tumor syndrome
Hereditary cancer-predisposing syndrome
Cowden syndrome 1

Reviewed By Expert Panel

rs_786204854

5 SubmittersRCV001814732 RCV001885301 RCV002406896 RCV003316850

NM_000314.8(PTEN):c.373A>G (p.Lys125Glu)

SNV
Germline

Chr10:87933132

Conflicting classifications of pathogenicity

Condition: not provided
PTEN hamartoma tumor syndrome
Cowden syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1554898127

4 SubmittersRCV001817633 RCV002542697 RCV003451963 RCV004040997

NM_006363.6(SEC23B):c.1603C>T (p.Arg535Ter)

SNV
Germline

Chr20:18543110

Pathogenic

Congenital dyserythropoietic anemia, type II
Cowden syndrome 7

Criteria Provided
Single Submitter

rs_201921350

1 SubmittersRCV001894286

NM_006218.4(PIK3CA):c.3145G>T (p.Gly1049Cys)

SNV
Germline

Chr3:179234302

Likely pathogenic

Cowden syndrome

Criteria Provided
Single Submitter

rs_121913277

1 SubmittersRCV002043221

NM_003002.4(SDHD):c.70C>T (p.Pro24Ser)

SNV
Germline

Chr11:112087874

Conflicting classifications of pathogenicity

Pheochromocytoma
Paragangliomas with sensorineural hearing loss
Carney-Stratakis syndrome
Cowden syndrome 3
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_775986509

2 SubmittersRCV002005249 RCV002361328

NM_000314.8(PTEN):c.287C>A (p.Pro96Gln)

SNV
Germline

Chr10:87933046

Pathogenic/Likely pathogenic

PTEN hamartoma tumor syndrome
Cowden syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1554898074

2 SubmittersRCV001953843 RCV003453874

NM_000314.8(PTEN):c.43A>T (p.Arg15Ter)

SNV
Germline

Chr10:87864512

Pathogenic

PTEN hamartoma tumor syndrome
Cowden syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_2132145750

2 SubmittersRCV001919652 RCV003452174

NM_006218.4(PIK3CA):c.1857G>A (p.Leu619=)

SNV
Germline

Chr3:179219681

Conflicting classifications of pathogenicity

Cowden syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_765176108

2 SubmittersRCV001919445 RCV004955864

NM_001382430.1(AKT1):c.1092G>A (p.Glu364=)

SNV
Germline

Chr14:104772958

Conflicting classifications of pathogenicity

Cowden syndrome 6
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_773975370

2 SubmittersRCV001947554 RCV003164183

NM_003002.4(SDHD):c.169+1G>T

SNV
Germline

Chr11:112087974

Pathogenic

Pheochromocytoma
Carney-Stratakis syndrome
Paragangliomas with sensorineural hearing loss
Cowden syndrome 3

Criteria Provided
Single Submitter

rs_2135267557

1 SubmittersRCV001994720

NM_003002.4(SDHD):c.413G>A (p.Gly138Glu)

SNV
Germline

Chr11:112094903

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Carney-Stratakis syndrome
Paragangliomas with sensorineural hearing loss
Cowden syndrome 3
Pheochromocytoma

Criteria Provided
Conflicting Classifications

rs_1401695686

2 SubmittersRCV003348710 RCV001990958

NM_003002.4(SDHD):c.317G>A (p.Gly106Asp)

SNV
Germline

Chr11:112094807

Pathogenic/Likely pathogenic

Pheochromocytoma
Cowden syndrome 3
Carney-Stratakis syndrome
Paragangliomas with sensorineural hearing loss
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555187574

2 SubmittersRCV001913139 RCV002324301

NM_000314.8(PTEN):c.71A>T (p.Asp24Val)

SNV
Germline

Chr10:87864540

Likely pathogenic

PTEN hamartoma tumor syndrome
Cowden syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_797044910

2 SubmittersRCV002043319 RCV004046709

NM_003002.4(SDHD):c.169+1G>A

SNV
Germline

Chr11:112087974

Pathogenic

Pheochromocytoma
Carney-Stratakis syndrome
Paragangliomas with sensorineural hearing loss
Cowden syndrome 3

Criteria Provided
Single Submitter

rs_2135267557

1 SubmittersRCV001958656

NM_006363.6(SEC23B):c.2101C>T (p.Arg701Cys)

SNV
Germline

Chr20:18554343

Pathogenic/Likely pathogenic

Congenital dyserythropoietic anemia, type II
Cowden syndrome 7
SEC23B-related disorder
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_201270568

4 SubmittersRCV002020875 RCV002222748 RCV003130680

NM_000314.8(PTEN):c.143A>G (p.Asn48Ser)

SNV
Germline

Chr10:87894088

Conflicting classifications of pathogenicity

PTEN hamartoma tumor syndrome
Cowden syndrome 1

Criteria Provided
Conflicting Classifications

rs_1859098783

2 SubmittersRCV001914799 RCV003234131

NM_003002.4(SDHD):c.450C>T (p.Cys150=)

SNV
Germline

Chr11:112094940

Conflicting classifications of pathogenicity

Cowden syndrome 3
Pheochromocytoma
Paragangliomas with sensorineural hearing loss
Carney-Stratakis syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_201337439

3 SubmittersRCV002140034 RCV002337361 RCV004763335

NM_003002.4(SDHD):c.170-20G>T

SNV
Germline

Chr11:112088847

Conflicting classifications of pathogenicity

Carney-Stratakis syndrome
Cowden syndrome 3
Paragangliomas with sensorineural hearing loss
Pheochromocytoma
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_2135269091

2 SubmittersRCV002082844 RCV004017892

NM_000314.8(PTEN):c.2T>C (p.Met1Thr)

SNV
Germline

Chr10:87864471

Pathogenic

Cowden syndrome 1

Criteria Provided
Single Submitter

rs_1858394001

1 SubmittersRCV002250273

NM_000314.8(PTEN):c.499A>G (p.Thr167Ala)

SNV
Germline

Chr10:87952124

Pathogenic

Cowden syndrome 1

Criteria Provided
Single Submitter

rs_1210737543

1 SubmittersRCV002250274

NM_006363.6(SEC23B):c.367C>T (p.Arg123Ter)

SNV
Germline

Chr20:18524433

Pathogenic

Congenital dyserythropoietic anemia, type II
Cowden syndrome 7
Congenital dyserythropoietic anemia, type II

Criteria Provided
Multiple Submitters
No Conflicts

rs_775380378

3 SubmittersRCV002250341 RCV002481053

NM_001382430.1(AKT1):c.1364-3C>T

SNV
Germline

Chr14:104770423

Conflicting classifications of pathogenicity

not specified
Cowden syndrome 6

Criteria Provided
Conflicting Classifications

rs_113777945

2 SubmittersRCV002246925 RCV003101349

NM_003002.4(SDHD):c.242C>G (p.Pro81Arg)

SNV
Germline

Chr11:112088939

Conflicting classifications of pathogenicity

Paraganglioma
Carney-Stratakis syndrome
Cowden syndrome 3
Pheochromocytoma
Paragangliomas with sensorineural hearing loss

Criteria Provided
Conflicting Classifications

rs_80338844

2 SubmittersRCV002251308 RCV003774738

NM_006363.6(SEC23B):c.53G>A (p.Arg18His)

SNV
Germline

Chr20:18510888

Conflicting classifications of pathogenicity

Condition: not provided
Congenital dyserythropoietic anemia, type II
Cowden syndrome 7
not specified
Congenital dyserythropoietic anemia, type II

Criteria Provided
Conflicting Classifications

rs_905074313

4 SubmittersRCV002276098 RCV003101567 RCV004526922 RCV004785559

NM_006218.4(PIK3CA):c.344G>T (p.Arg115Leu)

SNV
Germline/somatic

Chr3:179199169

Conflicting classifications of pathogenicity

Condition: not provided
Cowden syndrome
PIK3CA related overgrowth syndrome

Criteria Provided
Conflicting Classifications

3 SubmittersRCV002280087 RCV003096320 RCV003458242

NM_000314.8(PTEN):c.422A>T (p.His141Leu)

SNV
Germline

Chr10:87933181

Likely pathogenic

Macrocephaly-autism syndrome
Cowden syndrome 1
PTEN hamartoma tumor syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002287192 RCV003097716

NM_000314.8(PTEN):c.228T>A (p.Tyr76Ter)

SNV
Germline

Chr10:87931064

Pathogenic

Condition: not provided
Cowden syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002306033 RCV003454095

NM_000314.8(PTEN):c.372T>G (p.Cys124Trp)

SNV
Germline

Chr10:87933131

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Cowden syndrome 1
Prostate cancer, hereditary, 1

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV002353055 RCV003454133 RCV003483887

NM_006218.4(PIK3CA):c.788A>G (p.Glu263Gly)

SNV
Germline

Chr3:179201515

Conflicting classifications of pathogenicity

Inborn genetic diseases
Cowden syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002416574 RCV003120964

NM_000314.8(PTEN):c.675T>A (p.Tyr225Ter)

SNV
Germline

Chr10:87957893

Pathogenic

Hereditary cancer-predisposing syndrome
Cowden syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002369273 RCV003454183

NM_001382430.1(AKT1):c.1425G>A (p.Ser475=)

SNV
Germline

Chr14:104770359

Conflicting classifications of pathogenicity

Inborn genetic diseases
Cowden syndrome 6
AKT1-related disorder

Criteria Provided
Conflicting Classifications

3 SubmittersRCV002391924 RCV003095143 RCV003418492

NM_000314.8(PTEN):c.1008C>A (p.Tyr336Ter)

SNV
Germline

Chr10:87961100

Pathogenic

Hereditary cancer-predisposing syndrome
Cowden syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002457764 RCV003455465

NM_006363.6(SEC23B):c.640C>T (p.Gln214Ter)

SNV
Germline

Chr20:18524971

Pathogenic

Congenital dyserythropoietic anemia, type II
Condition: not provided
Congenital dyserythropoietic anemia, type II
Cowden syndrome 7

Criteria Provided
Multiple Submitters
No Conflicts

4 SubmittersRCV002470657 RCV003111576 RCV003775526

NM_006218.4(PIK3CA):c.2667-20G>A

SNV
Germline

Chr3:179229984

Conflicting classifications of pathogenicity

Cowden syndrome
Cowden syndrome 5

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003050868 RCV003134599

NM_000314.8(PTEN):c.540C>A (p.Tyr180Ter)

SNV
Germline

Chr10:87952165

Pathogenic

PTEN hamartoma tumor syndrome
Cowden syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003037350 RCV003455671

NM_000314.8(PTEN):c.853G>T (p.Glu285Ter)

SNV
Germline

Chr10:87960945

Pathogenic

PTEN hamartoma tumor syndrome
Cowden syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003058261 RCV003455672

NM_003002.4(SDHD):c.15G>A (p.Trp5Ter)

SNV
Germline

Chr11:112086922

Pathogenic

Pheochromocytoma
Carney-Stratakis syndrome
Paragangliomas with sensorineural hearing loss
Cowden syndrome 3

Criteria Provided
Single Submitter

1 SubmittersRCV002601701

NM_006363.6(SEC23B):c.366+1G>A

SNV
Germline

Chr20:18515737

Likely pathogenic

Congenital dyserythropoietic anemia, type II
Cowden syndrome 7

Criteria Provided
Single Submitter

1 SubmittersRCV002862093

NM_003002.4(SDHD):c.315-2A>T

SNV
Germline

Chr11:112094803

Pathogenic/Likely pathogenic

Cowden syndrome 3
Pheochromocytoma
Paragangliomas with sensorineural hearing loss
Carney-Stratakis syndrome
Mitochondrial complex 2 deficiency, nuclear type 3

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002863222 RCV003475442

NM_003002.4(SDHD):c.53-7T>C

SNV
Germline

Chr11:112087850

Conflicting classifications of pathogenicity

Pheochromocytoma
Paragangliomas with sensorineural hearing loss
Carney-Stratakis syndrome
Cowden syndrome 3
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002933644 RCV004999836

NM_003002.4(SDHD):c.264C>A (p.Cys88Ter)

SNV
Germline

Chr11:112088961

Pathogenic

Cowden syndrome 3
Carney-Stratakis syndrome
Paragangliomas with sensorineural hearing loss
Pheochromocytoma

Criteria Provided
Single Submitter

1 SubmittersRCV002994598

NM_003002.4(SDHD):c.381G>T (p.Gly127=)

SNV
Germline

Chr11:112094871

Conflicting classifications of pathogenicity

Pheochromocytoma
Carney-Stratakis syndrome
Cowden syndrome 3
Paragangliomas with sensorineural hearing loss
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

3 SubmittersRCV003008997 RCV003170827 RCV004999848

NM_003002.4(SDHD):c.53-2A>C

SNV
Germline

Chr11:112087855

Likely pathogenic

Cowden syndrome 3
Carney-Stratakis syndrome
Paragangliomas with sensorineural hearing loss
Pheochromocytoma

Criteria Provided
Single Submitter

1 SubmittersRCV003005720

NM_000314.8(PTEN):c.688G>T (p.Gly230Ter)

SNV
Germline

Chr10:87957906

Pathogenic

PTEN hamartoma tumor syndrome
Cowden syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003052340 RCV003455670

NM_003002.4(SDHD):c.198G>A (p.Trp66Ter)

SNV
Germline

Chr11:112088895

Pathogenic

Pheochromocytoma
Carney-Stratakis syndrome
Cowden syndrome 3
Paragangliomas with sensorineural hearing loss
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003777647 RCV004085101

NM_006363.6(SEC23B):c.221G>A (p.Cys74Tyr)

SNV
Germline

Chr20:18511056

Conflicting classifications of pathogenicity

Condition: not provided
Cowden syndrome 7
Congenital dyserythropoietic anemia, type II

Criteria Provided
Conflicting Classifications

3 SubmittersRCV003136547 RCV003778787

NM_000314.8(PTEN):c.371G>C (p.Cys124Ser)

SNV
Germline

Chr10:87933130

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Cowden syndrome 1
Glioma susceptibility 2

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV003165129 RCV003455770 RCV003459790

NM_000314.8(PTEN):c.332G>A (p.Trp111Ter)

SNV
Germline/somatic

Chr10:87933091

Pathogenic

Hereditary cancer-predisposing syndrome
PTEN hamartoma tumor syndrome
Endometrial carcinoma
Endometrial hyperplasia without atypia
Atypical endometrial hyperplasia
Cowden syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

4 SubmittersRCV003165130 RCV003330114 RCV003328128 RCV003455771

NM_003002.4(SDHD):c.125A>G (p.Glu42Gly)

SNV
Germline

Chr11:112087929

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Pheochromocytoma
Carney-Stratakis syndrome
Cowden syndrome 3
Paragangliomas with sensorineural hearing loss

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003278396 RCV003777249

NM_000314.8(PTEN):c.661A>T (p.Lys221Ter)

SNV
Germline

Chr10:87957879

Pathogenic

Cowden syndrome 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003319146 RCV004763647

NM_000314.8(PTEN):c.655C>T (p.Gln219Ter)

SNV
Germline/somatic

Chr10:87957873

Pathogenic

PTEN hamartoma tumor syndrome
Cowden syndrome 1
PTEN-related disorder
Neoplasm

Criteria Provided
Multiple Submitters
No Conflicts

4 SubmittersRCV003509818 RCV003455815 RCV004531535 RCV004673881

NM_000314.8(PTEN):c.1026+2T>C

SNV
Unknown

Chr10:87961120

Likely pathogenic

Cowden syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV003450510

NM_000314.8(PTEN):c.1026+2T>A

SNV
Unknown

Chr10:87961120

Likely pathogenic

Cowden syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV003450518

NM_000314.8(PTEN):c.1027-1G>T

SNV
Unknown

Chr10:87965286

Likely pathogenic

Cowden syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV003450531

NM_000314.8(PTEN):c.871G>T (p.Glu291Ter)

SNV
Unknown

Chr10:87960963

Pathogenic

Cowden syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV003450536

NM_000314.8(PTEN):c.802-1G>C

SNV
Germline

Chr10:87960893

Pathogenic

Cowden syndrome 1
PTEN hamartoma tumor syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003450537 RCV003619847

NM_000314.8(PTEN):c.1024A>T (p.Lys342Ter)

SNV
Unknown

Chr10:87961116

Pathogenic

Cowden syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV003450543

NM_000314.8(PTEN):c.2T>G (p.Met1Arg)

SNV
Unknown

Chr10:87864471

Likely pathogenic

Cowden syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV003452475

NM_000314.8(PTEN):c.377C>A (p.Ala126Asp)

SNV
Unknown

Chr10:87933136

Likely pathogenic

Cowden syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV003452476

NM_000314.8(PTEN):c.379G>C (p.Gly127Arg)

SNV
Unknown

Chr10:87933138

Likely pathogenic

Cowden syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV003452479

NM_000314.8(PTEN):c.362C>A (p.Ala121Glu)

SNV
Unknown

Chr10:87933121

Likely pathogenic

Cowden syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV003452480

NM_000314.8(PTEN):c.335T>G (p.Leu112Arg)

SNV
Unknown

Chr10:87933094

Pathogenic

Cowden syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV003452499

NM_000314.8(PTEN):c.264T>G (p.Tyr88Ter)

SNV
Unknown

Chr10:87933023

Pathogenic

Cowden syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV003452504

NM_000314.8(PTEN):c.271G>T (p.Glu91Ter)

SNV
Unknown

Chr10:87933030

Pathogenic

Cowden syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV003452508

NM_000314.8(PTEN):c.164+2T>A

SNV
Unknown

Chr10:87894111

Pathogenic

Cowden syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV003452512

NM_000314.8(PTEN):c.31A>T (p.Arg11Ter)

SNV
Unknown

Chr10:87864500

Pathogenic

Cowden syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV003452518

NM_000314.8(PTEN):c.340G>T (p.Glu114Ter)

SNV
Unknown

Chr10:87933099

Pathogenic

Cowden syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV003452532

NM_000314.8(PTEN):c.724G>T (p.Glu242Ter)

SNV
Unknown

Chr10:87957942

Pathogenic

Cowden syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV003452540

NM_000314.8(PTEN):c.490A>T (p.Lys164Ter)

SNV
Germline

Chr10:87933249

Pathogenic

Cowden syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003452543 RCV004943047

NM_000314.8(PTEN):c.686C>A (p.Ser229Ter)

SNV
Unknown

Chr10:87957904

Pathogenic

Cowden syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV003452557

NM_000314.8(PTEN):c.419T>A (p.Leu140Ter)

SNV
Unknown

Chr10:87933178

Pathogenic

Cowden syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV003452564

NM_000314.8(PTEN):c.121A>T (p.Arg41Ter)

SNV
Unknown

Chr10:87894066

Pathogenic

Cowden syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV003452568

NM_000314.8(PTEN):c.720C>A (p.Tyr240Ter)

SNV
Unknown

Chr10:87957938

Pathogenic

Cowden syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV003452570

NM_000314.8(PTEN):c.81T>A (p.Tyr27Ter)

SNV
Unknown

Chr10:87894026

Pathogenic

Cowden syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV003452578

NM_006363.6(SEC23B):c.539G>A (p.Cys180Tyr)

SNV
Germline

Chr20:18524605

Conflicting classifications of pathogenicity

Condition: not provided
Cowden syndrome 7
Congenital dyserythropoietic anemia, type II

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003491455 RCV003779256

NM_006363.6(SEC23B):c.937C>T (p.Arg313Cys)

SNV
Germline

Chr20:18526475

Conflicting classifications of pathogenicity

Condition: not provided
Congenital dyserythropoietic anemia, type II
Cowden syndrome 7

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003736478 RCV003779377

NM_006363.6(SEC23B):c.221+1G>A

SNV
Germline

Chr20:18511057

Likely pathogenic

Congenital dyserythropoietic anemia, type II
Cowden syndrome 7

Criteria Provided
Single Submitter

1 SubmittersRCV003785574

NM_006363.6(SEC23B):c.568C>T (p.Arg190Ter)

SNV
Germline

Chr20:18524634

Pathogenic

Cowden syndrome 7
Congenital dyserythropoietic anemia, type II
See cases

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003783740 RCV004798059

NM_006363.6(SEC23B):c.938G>A (p.Arg313His)

SNV
Germline

Chr20:18526476

Pathogenic

Cowden syndrome 7
Congenital dyserythropoietic anemia, type II

Criteria Provided
Single Submitter

1 SubmittersRCV003783741

NM_006363.6(SEC23B):c.953T>C (p.Ile318Thr)

SNV
Germline

Chr20:18526491

Pathogenic

Cowden syndrome 7
Congenital dyserythropoietic anemia, type II

Criteria Provided
Single Submitter

1 SubmittersRCV003783742

NM_006363.6(SEC23B):c.1589G>A (p.Arg530Gln)

SNV
Germline

Chr20:18543096

Likely pathogenic

Cowden syndrome 7
Congenital dyserythropoietic anemia, type II

Criteria Provided
Single Submitter

1 SubmittersRCV003783744

NM_006363.6(SEC23B):c.2152C>T (p.Arg718Ter)

SNV
Germline

Chr20:18555111

Pathogenic

Cowden syndrome 7
Congenital dyserythropoietic anemia, type II

Criteria Provided
Single Submitter

1 SubmittersRCV003783746

NM_006363.6(SEC23B):c.1741C>T (p.Gln581Ter)

SNV
Germline

Chr20:18546031

Pathogenic

Cowden syndrome 7
Congenital dyserythropoietic anemia, type II

Criteria Provided
Single Submitter

1 SubmittersRCV003798019

NM_006363.6(SEC23B):c.1402C>T (p.Gln468Ter)

SNV
Germline

Chr20:18535740

Pathogenic

Congenital dyserythropoietic anemia, type II
Cowden syndrome 7

Criteria Provided
Single Submitter

1 SubmittersRCV003782914

NM_006363.6(SEC23B):c.1015C>T (p.Arg339Ter)

SNV
Germline

Chr20:18527517

Pathogenic

Cowden syndrome 7
Congenital dyserythropoietic anemia, type II

Criteria Provided
Single Submitter

1 SubmittersRCV003780932

NM_003002.4(SDHD):c.2T>C (p.Met1Thr)

SNV
Germline

Chr11:112086909

Pathogenic

Pheochromocytoma
Carney-Stratakis syndrome
Cowden syndrome 3
Paragangliomas with sensorineural hearing loss

Criteria Provided
Single Submitter

1 SubmittersRCV003783589

NM_003002.4(SDHD):c.205G>T (p.Glu69Ter)

SNV
Germline

Chr11:112088902

Pathogenic

Pheochromocytoma
Carney-Stratakis syndrome
Cowden syndrome 3
Paragangliomas with sensorineural hearing loss

Criteria Provided
Single Submitter

1 SubmittersRCV003781386

NM_006363.6(SEC23B):c.762G>A (p.Trp254Ter)

SNV
Germline

Chr20:18525860

Pathogenic

Cowden syndrome 7
Congenital dyserythropoietic anemia, type II

Criteria Provided
Single Submitter

1 SubmittersRCV003789933

NM_006363.6(SEC23B):c.235C>T (p.Arg79Ter)

SNV
Germline

Chr20:18512238

Pathogenic

Congenital dyserythropoietic anemia, type II
Cowden syndrome 7

Criteria Provided
Single Submitter

1 SubmittersRCV003780267

NM_006363.6(SEC23B):c.835-2A>G

SNV
Germline

Chr20:18526371

Pathogenic

Congenital dyserythropoietic anemia, type II
Cowden syndrome 7

Criteria Provided
Single Submitter

1 SubmittersRCV003787891

NM_006363.6(SEC23B):c.689+1G>C

SNV
Germline

Chr20:18525021

Pathogenic

Congenital dyserythropoietic anemia, type II
Cowden syndrome 7

Criteria Provided
Single Submitter

1 SubmittersRCV003788065

NM_006363.6(SEC23B):c.279+1G>A

SNV
Germline

Chr20:18512283

Likely pathogenic

Cowden syndrome 7
Congenital dyserythropoietic anemia, type II

Criteria Provided
Single Submitter

1 SubmittersRCV003793972

NM_006363.6(SEC23B):c.2212C>T (p.Gln738Ter)

SNV
Germline

Chr20:18555171

Pathogenic

Cowden syndrome 7
Congenital dyserythropoietic anemia, type II

Criteria Provided
Single Submitter

1 SubmittersRCV003794662

NM_006363.6(SEC23B):c.367-1G>T

SNV
Germline

Chr20:18524432

Likely pathogenic

Cowden syndrome 7
Congenital dyserythropoietic anemia, type II

Criteria Provided
Single Submitter

1 SubmittersRCV003806710

NM_006363.6(SEC23B):c.249G>A (p.Trp83Ter)

SNV
Germline

Chr20:18512252

Pathogenic

Congenital dyserythropoietic anemia, type II
Cowden syndrome 7

Criteria Provided
Single Submitter

1 SubmittersRCV003799994

NM_006363.6(SEC23B):c.592A>T (p.Lys198Ter)

SNV
Germline

Chr20:18524658

Pathogenic

Congenital dyserythropoietic anemia, type II
Cowden syndrome 7

Criteria Provided
Single Submitter

1 SubmittersRCV003805918

NM_003002.4(SDHD):c.132T>A (p.Cys44Ter)

SNV
Germline

Chr11:112087936

Pathogenic

Pheochromocytoma
Carney-Stratakis syndrome
Cowden syndrome 3
Paragangliomas with sensorineural hearing loss

Criteria Provided
Single Submitter

1 SubmittersRCV003804227

NM_006363.6(SEC23B):c.689+1G>T

SNV
Germline

Chr20:18525021

Pathogenic

Cowden syndrome 7
Congenital dyserythropoietic anemia, type II

Criteria Provided
Single Submitter

1 SubmittersRCV003794769

NM_006363.6(SEC23B):c.1314+1G>A

SNV
Germline

Chr20:18532745

Likely pathogenic

Congenital dyserythropoietic anemia, type II
Cowden syndrome 7

Criteria Provided
Single Submitter

1 SubmittersRCV003800648

NM_006363.6(SEC23B):c.2202T>A (p.Tyr734Ter)

SNV
Germline

Chr20:18555161

Pathogenic

Cowden syndrome 7
Congenital dyserythropoietic anemia, type II

Criteria Provided
Single Submitter

1 SubmittersRCV003808831

NM_006363.6(SEC23B):c.221+163A>G

SNV
Germline

Chr20:18511219

Conflicting classifications of pathogenicity

Cowden syndrome 7
Congenital dyserythropoietic anemia, type II
not specified

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003801871 RCV004587563

NM_006363.6(SEC23B):c.1109+1G>C

SNV
Germline

Chr20:18527612

Likely pathogenic

Cowden syndrome 7
Congenital dyserythropoietic anemia, type II

Criteria Provided
Single Submitter

1 SubmittersRCV003802284

NM_006363.6(SEC23B):c.1660C>T (p.Arg554Ter)

SNV
Germline

Chr20:18543167

Pathogenic

Cowden syndrome 7
Congenital dyserythropoietic anemia, type II

Criteria Provided
Single Submitter

1 SubmittersRCV003809999

NM_003002.4(SDHD):c.170-2A>G

SNV
Germline

Chr11:112088865

Pathogenic/Likely pathogenic

Pheochromocytoma
Carney-Stratakis syndrome
Cowden syndrome 3
Paragangliomas with sensorineural hearing loss
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003807334 RCV004950702

NM_006363.6(SEC23B):c.1905+1G>A

SNV
Germline

Chr20:18548771

Likely pathogenic

Cowden syndrome 7
Congenital dyserythropoietic anemia, type II

Criteria Provided
Single Submitter

1 SubmittersRCV003818120

NM_000314.8(PTEN):c.1A>T (p.Met1Leu)

SNV
Unknown

Chr10:87864470

Likely pathogenic

Cowden syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV004442426

NM_000314.8(PTEN):c.764T>G (p.Val255Gly)

SNV
Germline

Chr10:87957982

Likely pathogenic

Familial prostate cancer
Macrocephaly-autism syndrome
Familial meningioma
Cowden syndrome 1
Glioma susceptibility 2

Criteria Provided
Single Submitter

1 SubmittersRCV004797022