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	21 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	16 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 Congenital dyserythropoietic anemia, type II Cowden syndrome 7	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	5 SubmittersRCV000001284 RCV001092534 RCV001384733
NM_006363.6(SEC23B):c.970C>T (p.Arg324Ter)	SNV Germline	Chr20:18526508	Pathogenic/Likely 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	6 SubmittersRCV000001285 RCV002512638 RCV003137483
NM_006363.6(SEC23B):c.649C>T (p.Arg217Ter)	SNV Germline	Chr20:18524980	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	Pheochromocytoma/paraganglioma syndrome 1 Hereditary cancer-predisposing syndrome Carney-Stratakis syndrome Paragangliomas with sensorineural hearing loss Pheochromocytoma 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	Pheochromocytoma/paraganglioma syndrome 1 Hereditary pheochromocytoma and paraganglioma Condition: not provided Hereditary cancer-predisposing syndrome Carney-Stratakis syndrome Paragangliomas with sensorineural hearing loss Pheochromocytoma Cowden syndrome 3	Criteria Provided Multiple Submitters No Conflicts	CA016789	rs_80338843	14 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 Pheochromocytoma/paraganglioma syndrome 1 Pheochromocytoma Condition: not provided not specified Hereditary cancer-predisposing syndrome Carney-Stratakis syndrome Mitochondrial complex 2 deficiency, nuclear type 3 Carney-Stratakis syndrome Paragangliomas with sensorineural hearing loss Pheochromocytoma Cowden syndrome 3 Mitochondrial complex 2 deficiency, nuclear type 3 Pheochromocytoma/paraganglioma syndrome 1 Carney-Stratakis syndrome Hereditary pheochromocytoma and paraganglioma	Criteria Provided Conflicting Classifications	CA016980	rs_34677591	29 SubmittersRCV000007299 RCV000007300 RCV000007302 RCV000034697 RCV000122006 RCV000162470 RCV000988742 RCV001807000 RCV002228001 RCV005394131 RCV005401281
NM_003002.4(SDHD):c.242C>T (p.Pro81Leu)	SNV Germline/somatic	Chr11:112088939	Pathogenic/Likely pathogenic	Pheochromocytoma Pheochromocytoma/paraganglioma syndrome 1 Hereditary pheochromocytoma and paraganglioma Hereditary cancer-predisposing syndrome Condition: not provided Pheochromocytoma/paraganglioma syndrome 1 Carney-Stratakis syndrome Pheochromocytoma Mitochondrial complex II deficiency, nuclear type 1 Mitochondrial complex II deficiency, nuclear type 1 Carney-Stratakis syndrome Paragangliomas with sensorineural hearing loss Pheochromocytoma Cowden syndrome 3 Mitochondrial complex 2 deficiency, nuclear type 3 SDHD-related disorder Inherited phaeochromocytoma and paraganglioma excluding NF1 Mitochondrial complex 2 deficiency, nuclear type 3 Pheochromocytoma/paraganglioma syndrome 1 Carney-Stratakis syndrome	Criteria Provided Multiple Submitters No Conflicts	CA016688	rs_80338844	27 SubmittersRCV000007304 RCV000007303 RCV000020519 RCV000162448 RCV000216073 RCV000763227 RCV002221470 RCV002228002 RCV003472995 RCV004748507 RCV005865159 RCV005394132
NM_003002.4(SDHD):c.274G>T (p.Asp92Tyr)	SNV Germline	Chr11:112088971	Pathogenic/Likely pathogenic	Pheochromocytoma/paraganglioma syndrome 1 Hereditary pheochromocytoma and paraganglioma Hereditary cancer-predisposing syndrome Condition: not provided Pheochromocytoma/paraganglioma syndrome 4 Carney-Stratakis syndrome Paragangliomas with sensorineural hearing loss Pheochromocytoma Cowden syndrome 3	Criteria Provided Multiple Submitters No Conflicts	CA016702	rs_80338845	9 SubmittersRCV000007305 RCV000020520 RCV000567104 RCV001701480 RCV002288471 RCV002512869
NM_003002.4(SDHD):c.305A>T (p.His102Leu)	SNV Germline	Chr11:112089002	Pathogenic	Pheochromocytoma/paraganglioma syndrome 1 Hereditary cancer-predisposing syndrome Paragangliomas with sensorineural hearing loss Cowden syndrome 3 Carney-Stratakis syndrome Pheochromocytoma	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	Pheochromocytoma/paraganglioma syndrome 1 Hereditary pheochromocytoma and paraganglioma Hereditary cancer-predisposing syndrome Carney-Stratakis syndrome Paragangliomas with sensorineural hearing loss Pheochromocytoma Cowden syndrome 3 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA016797	rs_104894304	13 SubmittersRCV000007309 RCV000155750 RCV000221353 RCV002228004 RCV001810833
NM_003002.4(SDHD):c.95C>A (p.Ser32Ter)	SNV Germline	Chr11:112087899	Pathogenic	Pheochromocytoma/paraganglioma syndrome 1 Hereditary pheochromocytoma and paraganglioma Hereditary cancer-predisposing syndrome Paragangliomas with sensorineural hearing loss Cowden syndrome 3 Carney-Stratakis syndrome Pheochromocytoma Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA016746	rs_104894305	7 SubmittersRCV000007310 RCV000505384 RCV002381243 RCV002228005 RCV004791197
NM_003002.4(SDHD):c.64C>T (p.Arg22Ter)	SNV Germline	Chr11:112087868	Pathogenic	Pheochromocytoma/paraganglioma syndrome 1 Pheochromocytoma Hereditary cancer-predisposing syndrome Condition: not provided Carney-Stratakis syndrome Paragangliomas with sensorineural hearing loss Pheochromocytoma Cowden syndrome 3 Hereditary pheochromocytoma and 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	Pheochromocytoma/paraganglioma syndrome 1 Hereditary pheochromocytoma and paraganglioma Hereditary cancer-predisposing syndrome Carney-Stratakis syndrome Paragangliomas with sensorineural hearing loss Pheochromocytoma Cowden syndrome 3 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA016987	rs_80338842	7 SubmittersRCV000007315 RCV000020522 RCV000492533 RCV002228007 RCV005414445
NM_003002.4(SDHD):c.1A>G (p.Met1Val)	SNV Germline	Chr11:112086908	Pathogenic	Paragangliomas with sensorineural hearing loss Cowden syndrome 3 Carney-Stratakis syndrome Pheochromocytoma Pheochromocytoma/paraganglioma syndrome 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	Pheochromocytoma/paraganglioma syndrome 1 Hereditary cancer-predisposing syndrome Condition: not provided Paragangliomas with sensorineural hearing loss Cowden syndrome 3 Carney-Stratakis syndrome Pheochromocytoma	Criteria Provided Multiple Submitters No Conflicts	CA016785	rs_104894308	6 SubmittersRCV000007322 RCV000222413 RCV000756632 RCV002512871
NM_003002.4(SDHD):c.33C>A (p.Cys11Ter)	SNV Germline	Chr11:112086940	Pathogenic	Pheochromocytoma Hereditary cancer-predisposing syndrome Paragangliomas with sensorineural hearing loss Cowden syndrome 3 Carney-Stratakis syndrome Pheochromocytoma Pheochromocytoma/paraganglioma syndrome 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	Carney-Stratakis syndrome Paragangliomas with sensorineural hearing loss Pheochromocytoma Cowden syndrome 3 Hereditary cancer-predisposing syndrome Pheochromocytoma/paraganglioma syndrome 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA016834	rs_104894310	5 SubmittersRCV001851719 RCV004018584 RCV004018583 RCV006263621
NM_000314.8(PTEN):c.386G>A (p.Gly129Glu)	SNV Germline/somatic	Chr10:87933145	Pathogenic/Likely pathogenic	Cowden syndrome 1 PTEN hamartoma tumor syndrome Condition: not provided Hereditary cancer-predisposing syndrome Malignant tumor of urinary bladder Neoplasm	Criteria Provided Multiple Submitters No Conflicts	CA000431	rs_121909218	8 SubmittersRCV000008255 RCV000490577 RCV000413815 RCV001021326 RCV003332076 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 Neoplasm	Criteria Provided Multiple Submitters No Conflicts	CA000549	rs_121909219	34 SubmittersRCV000008256 RCV000128455 RCV000162649 RCV000212882 RCV000477737 RCV000678740 RCV000785383 RCV001327980 RCV003162216 RCV003466836 RCV004532309 RCV006273048
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/somatic	Chr10:87933127	Pathogenic	Cowden syndrome 1 Condition: not provided PTEN hamartoma tumor syndrome PTEN-related disorder Neoplasm	Reviewed By Expert Panel	CA000418	rs_121909222	7 SubmittersRCV000008260 RCV000518927 RCV000735264 RCV004528091 RCV005229770
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 Glioma susceptibility 2 Prostate cancer Familial meningioma Macrocephaly-autism syndrome Cowden syndrome 1 Gastric cancer Macrocephaly-autism syndrome Cowden syndrome 1 Neoplasm PTEN-related disorder Glioma susceptibility 2 Familial meningioma Macrocephaly-autism syndrome Cowden syndrome 1 Familial prostate cancer Colorectal cancer Cowden syndrome	Criteria Provided Multiple Submitters No Conflicts	CA000433	rs_121909224	53 SubmittersRCV000008265 RCV000008263 RCV000078615 RCV000199099 RCV000132187 RCV000424529 RCV001257555 RCV001327978 RCV001542771 RCV002476944 RCV003162218 RCV003326115 RCV004668708 RCV004532310 RCV005394140 RCV006250156 RCV005409596
NM_000314.8(PTEN):c.253+1G>A	SNV Germline/somatic	Chr10:87931090	Pathogenic	Endometrial carcinoma Cowden syndrome 1 Condition: not provided PTEN hamartoma tumor syndrome Hereditary cancer-predisposing syndrome Neoplasm Glioma susceptibility 2	Criteria Provided Multiple Submitters No Conflicts	CA000362	rs_587776667	9 SubmittersRCV000008266 RCV000516042 RCV000433259 RCV000529512 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 Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA000268	rs_121909225	5 SubmittersRCV000008271 RCV000790896 RCV006424600
NM_000314.8(PTEN):c.209T>C (p.Leu70Pro)	SNV Germline/somatic	Chr10:87925557	Likely pathogenic	Cowden syndrome 1 PTEN hamartoma tumor syndrome Familial meningioma Glioma susceptibility 2 Prostate cancer Macrocephaly-autism syndrome Cowden syndrome 1 Hereditary cancer-predisposing syndrome Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype	Reviewed By Expert Panel	CA000350	rs_121909226	6 SubmittersRCV000008272 RCV000758229 RCV002496305 RCV004018588 RCV006253454
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 Condition: not provided Ovarian neoplasm Cowden syndrome PTEN-related disorder Embryonal rhabdomyosarcoma	Reviewed By Expert Panel	CA000437	rs_121909229	21 SubmittersRCV000008275 RCV000131067 RCV000178761 RCV000212880 RCV000427853 RCV002228017 RCV004734504 RCV006253455
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 Glioma susceptibility 2 Prostate cancer Familial meningioma Cowden syndrome 1 Macrocephaly-autism syndrome Familial cancer of breast Neoplasm	Criteria Provided Multiple Submitters No Conflicts	CA000245	rs_121909231	42 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 Condition: not provided Cowden syndrome 1 Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA000381	rs_121909238	9 SubmittersRCV000008298 RCV000645075 RCV003137501 RCV003450619 RCV002433447
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 Glioma susceptibility 2 Cowden syndrome 1	Reviewed By Expert Panel	CA000564	rs_121909239	9 SubmittersRCV000008299 RCV000758222 RCV001775539 RCV002390096 RCV003460437 RCV003450620
NM_000314.8(PTEN):c.395G>T (p.Gly132Val)	SNV Germline	Chr10:87933154	Pathogenic/Likely pathogenic	PTEN hamartoma tumor syndrome Hereditary cancer-predisposing syndrome Condition: not provided Cowden syndrome 1 Glioma susceptibility 2 PTEN-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA000446	rs_121909241	9 SubmittersRCV000008302 RCV000221956 RCV000489810 RCV000656691 RCV003460438 RCV004532311
NM_003000.3(SDHB):c.487T>C (p.Ser163Pro)	SNV Germline	Chr1:17027802	Conflicting classifications of pathogenicity	Cowden syndrome Condition: not provided Hereditary cancer-predisposing syndrome not specified Pheochromocytoma/paraganglioma syndrome 4 Pheochromocytoma Pheochromocytoma/paraganglioma syndrome 4 Gastrointestinal stromal tumor Hereditary pheochromocytoma and paraganglioma Gastrointestinal stromal tumor Carney-Stratakis syndrome Malignant tumor of breast	Criteria Provided Conflicting Classifications	CA015910	rs_33927012	31 SubmittersRCV000013633 RCV000034688 RCV000132153 RCV000122002 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 Ovarian neoplasm Stroke disorder Macrodactyly of toe CLAPO syndrome Cowden syndrome 1 Megalencephaly-capillary malformation-polymicrogyria syndrome Hemihypertrophy CEREBRAL CAVERNOUS MALFORMATIONS 4, SOMATIC Colorectal cancer Condition: not provided Cavernous lymphangioma Neoplasm Inborn genetic diseases Medulloblastoma WNT activated Rosette-forming glioneuronal tumor Diffuse midline glioma, H3 K27M-mutant	Criteria Provided Multiple Submitters No Conflicts	CA123328	rs_121913279	14 SubmittersRCV000014629 RCV000032905 RCV000201235 RCV000422323 RCV000626894 RCV000709692 RCV000987367 RCV001253236 RCV001526597 RCV001728092 RCV001807728 RCV002254265 RCV004527292 RCV004668728 RCV004649064 RCV006253567 RCV006253565 RCV006253566
NM_001382430.1(AKT1):c.49G>A (p.Glu17Lys)	SNV Germline/somatic	Chr14:104780214	Pathogenic	Breast adenocarcinoma Carcinoma of colon Ovarian neoplasm Proteus syndrome Cowden syndrome 6 Condition: not provided Neoplasm Meningioma Medulloblastoma SHH activated and TP53 wild-type Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype	Criteria Provided Multiple Submitters No Conflicts	CA123660	rs_121434592	8 SubmittersRCV000015017 RCV000015018 RCV000015019 RCV000031926 RCV000795313 RCV001813745 RCV004668732 RCV005647963 RCV006253622 RCV006253621
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 CLAPO syndrome Lip and oral cavity carcinoma Cerebrofacial Vascular Metameric Syndrome (CVMS) CEREBRAL CAVERNOUS MALFORMATIONS 4, SOMATIC Abnormal cardiovascular system morphology Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes PIK3CA-related overgrowth PIK3CA related overgrowth syndrome PIK3CA-related disorder Rare venous malformation Cowden syndrome Megalencephaly-capillary malformation-polymicrogyria syndrome Neoplasm HEMIFACIAL MYOHYPERPLASIA, SOMATIC Rosette-forming glioneuronal tumor Alveolar rhabdomyosarcoma Diffuse midline glioma, H3 K27M-mutant Vascular malformation Glioma Cervical squamous cell carcinoma	Reviewed By Expert Panel	CA333572	rs_121913273	20 SubmittersRCV000024622 RCV000151649 RCV000154513 RCV000416776 RCV000709693 RCV001255687 RCV001730477 RCV001728093 RCV001327962 RCV001836714 RCV003987334 RCV003458190 RCV004532404 RCV004527296 RCV002513230 RCV004698785 RCV004668742 RCV003764635 RCV006253684 RCV006253682 RCV006253686 RCV006253685 RCV006253683 RCV006456623
NM_006218.4(PIK3CA):c.1258T>C (p.Cys420Arg)	SNV Germline/somatic	Chr3:179210192	Pathogenic	CLOVES syndrome Ovarian neoplasm PIK3CA related overgrowth syndrome CLAPO syndrome Abnormal cardiovascular system morphology Segmental undergrowth associated with lymphatic malformation Capillary malformation Condition: not provided Rare combined vascular malformation Cowden syndrome Neoplasm Colorectal cancer Neuroblastoma Medulloblastoma WNT activated IDH-wildtype glioblastoma Immature ovarian teratoma Colon adenocarcinoma PIK3CA-related disorder Diffuse midline glioma, H3 K27M-mutant	Criteria Provided Multiple Submitters No Conflicts	CA180900	rs_121913272	18 SubmittersRCV000024623 RCV000154512 RCV000201232 RCV000709694 RCV001327960 RCV001705599 RCV001526612 RCV002054475 RCV004527297 RCV003588566 RCV004668743 RCV005603590 RCV006253688 RCV006253690 RCV006253691 RCV006253692 RCV006253687 RCV005867798 RCV006253689
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 PIK3C1-related disorder	Reviewed By Expert Panel	CA130467	rs_587776932	21 SubmittersRCV000032907 RCV000414672 RCV001327966 RCV001594376 RCV001836717 RCV001852661 RCV002254272 RCV002274888 RCV003233078 RCV004798751 RCV004737167 RCV004955261 RCV005222712
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 Epidermal nevus Diffuse midline glioma, H3 K27M-mutant Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA130469	rs_397514565	11 SubmittersRCV000032908 RCV000201233 RCV000806643 RCV004532477 RCV005229840 RCV006253701 RCV005241335
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 Sialoblastoma Diffuse midline glioma, H3 K27M-mutant	Criteria Provided Multiple Submitters No Conflicts	CA130471	rs_121913281	15 SubmittersRCV000032909 RCV000038675 RCV000698423 RCV000763508 RCV001092441 RCV001705625 RCV002226661 RCV003233079 RCV003882732 RCV004698336 RCV004955262 RCV006253703 RCV006253702
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/somatic	Chr10:87933090	Pathogenic	Condition: not provided PTEN hamartoma tumor syndrome Cowden syndrome 1 Hereditary cancer-predisposing syndrome Neoplasm	Reviewed By Expert Panel	CA000401	rs_398123321	7 SubmittersRCV000078613 RCV000758231 RCV001807780 RCV002321573 RCV006273506
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	Condition: not provided Congenital dyserythropoietic anemia, type II Congenital dyserythropoietic anemia, type II Cowden syndrome 7	Criteria Provided Multiple Submitters No Conflicts	CA222937	rs_398124225	5 SubmittersRCV000081403 RCV001843475 RCV003764767
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	7 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 Carney-Stratakis syndrome Pheochromocytoma Paragangliomas with sensorineural hearing loss Cowden syndrome 3 Pheochromocytoma/paraganglioma syndrome 1 Hereditary pheochromocytoma and paraganglioma SDHD-related disorder	Criteria Provided Conflicting Classifications	CA016754	rs_141802836	8 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 Carney-Stratakis syndrome Cowden syndrome 3 Pheochromocytoma SDHD-related disorder Mitochondrial complex 2 deficiency, nuclear type 3 Hereditary pheochromocytoma and paraganglioma Pheochromocytoma/paraganglioma syndrome 1	Criteria Provided Conflicting Classifications	CA016634	rs_142135772	13 SubmittersRCV000122009 RCV000130895 RCV001546458 RCV002228625 RCV003398736 RCV003474733 RCV005401328 RCV005859508
NM_003002.4(SDHD):c.255G>T (p.Leu85Phe)	SNV Germline	Chr11:112088952	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Carney-Stratakis syndrome Pheochromocytoma Paragangliomas with sensorineural hearing loss Cowden syndrome 3 Condition: not provided Hereditary pheochromocytoma and paraganglioma	Criteria Provided Conflicting Classifications	CA016696	rs_199517389	5 SubmittersRCV000122010 RCV000568887 RCV002515893 RCV004998244 RCV006547615
NM_000314.8(PTEN):c.258A>G (p.Ala86=)	SNV Germline	Chr10:87933017	Conflicting classifications of pathogenicity	PTEN hamartoma tumor syndrome Hereditary cancer-predisposing syndrome not specified Condition: not provided Cowden syndrome 1	Criteria Provided Conflicting Classifications	CA000370	rs_587780710	7 SubmittersRCV000123047 RCV000163972 RCV000421623 RCV004998249 RCV005420551
NM_000314.8(PTEN):c.379G>A (p.Gly127Arg)	SNV Germline/somatic	Chr10:87933138	Pathogenic/Likely pathogenic	PTEN hamartoma tumor syndrome Condition: not provided Hereditary cancer-predisposing syndrome Cowden syndrome 1 Neoplasm	Criteria Provided Multiple Submitters No Conflicts	CA000426	rs_587781255	5 SubmittersRCV000128454 RCV000479167 RCV001021176 RCV003453057 RCV005229955
NM_000314.8(PTEN):c.493-2A>G	SNV Germline	Chr10:87952116	Pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Cowden syndrome 1 PTEN hamartoma tumor syndrome Squamous cell lung carcinoma Familial cancer of breast	Reviewed By Expert Panel	CA000478	rs_587781784	11 SubmittersRCV000130038 RCV000254682 RCV000515821 RCV000710293 RCV005886912 RCV005886911
NM_000314.8(PTEN):c.389G>C (p.Arg130Pro)	SNV Germline	Chr10:87933148	Pathogenic	Hereditary cancer-predisposing syndrome PTEN hamartoma tumor syndrome Cowden syndrome 1	Reviewed By Expert Panel	CA000439	rs_121909229	4 SubmittersRCV000130803 RCV000532163 RCV006449358
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 Cowden syndrome 1 Macrocephaly-autism syndrome Familial meningioma Glioma susceptibility 2 Familial prostate cancer	Criteria Provided Multiple Submitters No Conflicts	CA000471	rs_587782187	5 SubmittersRCV000130817 RCV000212878 RCV000477134 RCV003453078 RCV005042264
NM_003002.4(SDHD):c.155C>A (p.Ser52Ter)	SNV Germline	Chr11:112087959	Pathogenic	Hereditary cancer-predisposing syndrome Paragangliomas with sensorineural hearing loss Carney-Stratakis syndrome Pheochromocytoma Cowden syndrome 3	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 PTEN hamartoma tumor syndrome Breast and/or ovarian cancer Gastric cancer Cowden syndrome 1 Macrocephaly-autism syndrome Familial meningioma Glioma susceptibility 2 Familial prostate cancer Macrocephaly-autism syndrome	Reviewed By Expert Panel	CA000559	rs_587782350	19 SubmittersRCV000131292 RCV000212883 RCV000660237 RCV000613031 RCV001270998 RCV003162587 RCV005394484 RCV005621882
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	6 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 Malignant tumor of esophagus Thymoma	Reviewed By Expert Panel	CA000591	rs_587782455	11 SubmittersRCV000131528 RCV000212884 RCV000516134 RCV000710295 RCV004532571 RCV005886929 RCV005886930
NM_000314.8(PTEN):c.493G>T (p.Gly165Ter)	SNV Germline	Chr10:87952118	Pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Cowden syndrome 1 PTEN hamartoma tumor syndrome	Criteria Provided Multiple Submitters No Conflicts	CA000480	rs_587782603	6 SubmittersRCV000131967 RCV001092597 RCV003453088 RCV003509496
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 Hereditary cancer-predisposing syndrome Paragangliomas with sensorineural hearing loss Carney-Stratakis syndrome Pheochromocytoma Cowden syndrome 3 SDHD-related disorder	Criteria Provided Conflicting Classifications	CA016681	rs_202198133	7 SubmittersRCV000144171 RCV000484125 RCV001290090 RCV002415627 RCV002515941 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 and paraganglioma Hereditary cancer-predisposing syndrome Condition: not provided Paragangliomas with sensorineural hearing loss Carney-Stratakis syndrome Pheochromocytoma Cowden syndrome 3 Pheochromocytoma/paraganglioma syndrome 1	Criteria Provided Conflicting Classifications	CA016726	rs_201372601	11 SubmittersRCV000144172 RCV000454533 RCV000505355 RCV001023072 RCV000994727 RCV002228513 RCV006554470
NM_006218.4(PIK3CA):c.353G>A (p.Gly118Asp)	SNV Germline/somatic	Chr3:179199690	Pathogenic	Cowden syndrome 5 Condition: not provided Angioosteohypertrophic syndrome Keratoacanthoma Cowden syndrome PIK3CA related overgrowth syndrome Diffuse glioma, H3 G34 mutant Neoplasm Dysembryoplastic neuroepithelial tumor Embryonal rhabdomyosarcoma Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype	Criteria Provided Multiple Submitters No Conflicts	CA170883	rs_587777790	10 SubmittersRCV000144506 RCV001726000 RCV002254279 RCV001849317 RCV002512561 RCV004719712 RCV006253827 RCV006273563 RCV006253828 RCV006253825 RCV006253826
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_003000.3(SDHB):c.79C>G (p.Arg27Gly)	SNV Germline	Chr1:17044882	Conflicting classifications of pathogenicity	Pheochromocytoma Pheochromocytoma/paraganglioma syndrome 4 not specified Hereditary cancer-predisposing syndrome Pheochromocytoma/paraganglioma syndrome 4 Gastrointestinal stromal tumor Pheochromocytoma Condition: not provided Gastrointestinal stromal tumor Cowden syndrome Hereditary pheochromocytoma and paraganglioma	Criteria Provided Conflicting Classifications	CA016179	rs_74315369	10 SubmittersRCV000148870 RCV000408969 RCV000455540 RCV000492780 RCV000477264 RCV001527323 RCV003474796 RCV005365043 RCV006547641
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 Medulloblastoma WNT activated	Criteria Provided Multiple Submitters No Conflicts	CA183868	rs_121913283	6 SubmittersRCV000155959 RCV000201237 RCV000699681 RCV001526545 RCV002293423 RCV006253845
NM_006363.6(SEC23B):c.1648C>T (p.Arg550Ter)	SNV Germline	Chr20:18543155	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	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 Cowden syndrome 7 Congenital dyserythropoietic anemia, type II Cowden syndrome 7 not specified	Criteria Provided Conflicting Classifications	CA234903	rs_6045440	8 SubmittersRCV000153925 RCV000490449 RCV001082004 RCV001335411 RCV005229985
NM_006363.6(SEC23B):c.1489C>T (p.Arg497Cys)	SNV Germline	Chr20:18542380	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	CA234906	rs_727504145	7 SubmittersRCV000153928 RCV000779341 RCV001850108 RCV004737238
NM_000314.8(PTEN):c.*8T>G	SNV Germline	Chr10:87965480	Conflicting classifications of pathogenicity	Condition: not provided Cowden syndrome 1	Criteria Provided Conflicting Classifications	CA000627	rs_727504115	2 SubmittersRCV000153793 RCV005425742
NM_000314.8(PTEN):c.70G>C (p.Asp24His)	SNV Germline/somatic	Chr10:87864539	Pathogenic	Hereditary cancer-predisposing syndrome not specified Ovarian neoplasm PTEN hamartoma tumor syndrome Cowden syndrome 1 Glioma Condition: not provided Neoplasm	Reviewed By Expert Panel	CA000187	rs_786201995	9 SubmittersRCV000165524 RCV000678734 RCV000785578 RCV001315436 RCV001523840 RCV004798791 RCV005051757 RCV006273600
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 Colon adenocarcinoma Cervical cancer	Reviewed By Expert Panel	CA000129	rs_786203847	8 SubmittersRCV000167333 RCV000212879 RCV000710306 RCV002288765 RCV005889635 RCV005889636
NM_000314.8(PTEN):c.261A>G (p.Gln87=)	SNV Germline	Chr10:87933020	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Cowden syndrome 1 PTEN hamartoma tumor syndrome not specified	Criteria Provided Conflicting Classifications	CA000137	rs_149772796	8 SubmittersRCV000166821 RCV000412378 RCV000545595 RCV000612380
NM_000314.8(PTEN):c.349A>C (p.Asn117His)	SNV Germline	Chr10:87933108	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided PTEN hamartoma tumor syndrome Glioma susceptibility 2 Macrocephaly-autism syndrome Familial meningioma Cowden syndrome 1 Familial prostate cancer Glioma susceptibility 2	Criteria Provided Conflicting Classifications	CA000145	rs_771310592	8 SubmittersRCV000165033 RCV000216601 RCV000524733 RCV003468728 RCV005049442
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 Cowden syndrome 1 Glioma susceptibility 2 Glioma Neoplasm	Criteria Provided Multiple Submitters No Conflicts	CA000151	rs_786201044	15 SubmittersRCV000162428 RCV000202582 RCV000212881 RCV000463307 RCV000587477 RCV000785388 RCV003389317 RCV003462114 RCV004798789 RCV006273581
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 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA000175	rs_786202733	4 SubmittersRCV000165694 RCV003316046 RCV003509505 RCV005222791
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 Macrocephaly-autism syndrome Neoplasm	Criteria Provided Multiple Submitters No Conflicts	CA000193	rs_786202918	10 SubmittersRCV000165985 RCV000490581 RCV000756578 RCV003454410 RCV005867974 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 Cowden syndrome 1	Reviewed By Expert Panel	CA000207	rs_398123329	8 SubmittersRCV000163498 RCV001559615 RCV001269397 RCV003454396 RCV003493469 RCV004668823 RCV005861065
NM_000314.8(PTEN):c.892C>T (p.Gln298Ter)	SNV Germline	Chr10:87960984	Pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided PTEN hamartoma tumor syndrome Cowden syndrome 1	Reviewed By Expert Panel	CA000219	rs_371387815	5 SubmittersRCV000167405 RCV000315739 RCV000645029 RCV005867976
NM_000314.8(PTEN):c.923G>A (p.Arg308His)	SNV Germline	Chr10:87961015	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided PTEN hamartoma tumor syndrome Ovarian cancer Cowden syndrome 1 Familial meningioma Macrocephaly-autism syndrome Glioma susceptibility 2 Familial prostate cancer	Criteria Provided Conflicting Classifications	CA000228	rs_786201507	9 SubmittersRCV000163774 RCV000180139 RCV000645041 RCV003153440 RCV005394594
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 Diffuse glioma, H3 G34 mutant Uterine corpus endometrial carcinoma Melanoma	Reviewed By Expert Panel	CA000103	rs_786201041	10 SubmittersRCV000162423 RCV000515989 RCV000710314 RCV001528105 RCV006253856 RCV005888598 RCV005888597
NM_000314.8(PTEN):c.1062G>A (p.Pro354=)	SNV Germline	Chr10:87965322	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided PTEN hamartoma tumor syndrome not specified Cowden syndrome 1	Criteria Provided Conflicting Classifications	CA000109	rs_786202751	11 SubmittersRCV000165723 RCV000467139 RCV001079814 RCV001818384 RCV005420670
NM_003002.4(SDHD):c.304C>A (p.His102Asn)	SNV Germline	Chr11:112089001	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Cowden syndrome 3 Pheochromocytoma Paragangliomas with sensorineural hearing loss Carney-Stratakis syndrome Hereditary pheochromocytoma and paraganglioma	Criteria Provided Multiple Submitters No Conflicts	CA016659	rs_786202403	3 SubmittersRCV000165195 RCV002228740 RCV006547705
NM_003002.4(SDHD):c.412G>A (p.Gly138Arg)	SNV Germline	Chr11:112094902	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Cowden syndrome 3 Pheochromocytoma Paragangliomas with sensorineural hearing loss Carney-Stratakis syndrome	Criteria Provided Multiple Submitters No Conflicts	CA017004	rs_786203932	3 SubmittersRCV000167450 RCV000478572 RCV002228995
NM_000314.8(PTEN):c.49C>T (p.Gln17Ter)	SNV Germline/somatic	Chr10:87864518	Pathogenic	Hereditary cancer-predisposing syndrome PTEN hamartoma tumor syndrome not specified Cowden syndrome 1 Neoplasm	Criteria Provided Multiple Submitters No Conflicts	CA000485	rs_786204910	6 SubmittersRCV000169851 RCV000204017 RCV001002035 RCV003454440 RCV005230034
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/somatic	Chr10:87864546	Pathogenic/Likely pathogenic	PTEN hamartoma tumor syndrome Cowden syndrome 1 See cases Hereditary cancer-predisposing syndrome Neoplasm	Criteria Provided Multiple Submitters No Conflicts	CA000574	rs_786204853	5 SubmittersRCV001065725 RCV001263192 RCV001420273 RCV002408731 RCV005230032
NM_000314.8(PTEN):c.182A>G (p.His61Arg)	SNV Germline/somatic	Chr10:87925530	Likely pathogenic	Hereditary cancer-predisposing syndrome PTEN hamartoma tumor syndrome Ovarian neoplasm Cowden syndrome 1	Reviewed By Expert Panel	CA000332	rs_398123316	7 SubmittersRCV000491953 RCV000490582 RCV000785574 RCV003454430
NM_000314.8(PTEN):c.202T>C (p.Tyr68His)	SNV Germline/somatic	Chr10:87925550	Pathogenic/Likely pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Cowden syndrome 1 PTEN hamartoma tumor syndrome Macrocephaly-autism syndrome Familial meningioma Prostate cancer Cowden syndrome 1 Glioma susceptibility 2 Macrocephaly-autism syndrome Macrocephaly-autism syndrome Cowden syndrome 1 Glioma susceptibility 2 Medulloblastoma non-WNT/non-SHH group 4	Criteria Provided Multiple Submitters No Conflicts	CA000342	rs_398123317	13 SubmittersRCV000169864 RCV000491290 RCV000499784 RCV000552740 RCV002505225 RCV003231353 RCV003313047 RCV003462271 RCV006253867
NM_000314.8(PTEN):c.253+1G>T	SNV Germline/somatic	Chr10:87931090	Pathogenic	Condition: not provided Cowden syndrome 1 PTEN hamartoma tumor syndrome Macrocephaly-autism syndrome Hereditary cancer-predisposing syndrome Neoplasm Nonpapillary renal cell carcinoma Cervical cancer	Criteria Provided Multiple Submitters No Conflicts	CA000364	rs_587776667	9 SubmittersRCV000169865 RCV000515902 RCV000645046 RCV001836741 RCV002453570 RCV005230035 RCV005889652 RCV005889653
NM_000314.8(PTEN):c.289C>T (p.Gln97Ter)	SNV Germline	Chr10:87933048	Pathogenic	Condition: not provided PTEN hamartoma tumor syndrome Hereditary cancer-predisposing syndrome Cowden syndrome 1 Glioma susceptibility 2 Familial meningioma Macrocephaly-autism syndrome Familial prostate cancer	Criteria Provided Multiple Submitters No Conflicts	CA000386	rs_786204928	4 SubmittersRCV000169873 RCV000645061 RCV002433728 RCV005396505
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 Primary central nervous system lymphoma	Reviewed By Expert Panel	CA000451	rs_786204859	8 SubmittersRCV000169797 RCV000217011 RCV000552515 RCV003332137 RCV003454431 RCV006455052
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	Likely pathogenic	not specified Hereditary cancer-predisposing syndrome PTEN hamartoma tumor syndrome Macrocephaly-autism syndrome Familial meningioma Prostate cancer Glioma susceptibility 2 Cowden syndrome 1 Cowden syndrome 1 Condition: not provided	Reviewed By Expert Panel	CA000496	rs_786204865	7 SubmittersRCV000582640 RCV002345569 RCV002515206 RCV002505224 RCV005867983 RCV005230033
NM_000314.8(PTEN):c.517C>T (p.Arg173Cys)	SNV Germline/somatic	Chr10:87952142	Pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome PTEN hamartoma tumor syndrome not specified Cowden syndrome 1 Macrocephaly-autism syndrome VACTERL with hydrocephalus Cowden syndrome 1 Neurodevelopmental delay Cowden syndrome 1 Glioma susceptibility 2 Prostate cancer Macrocephaly-autism syndrome Familial meningioma Glioma susceptibility 2 Malignant lymphoma, large B-cell, diffuse Neoplasm Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype	Reviewed By Expert Panel	CA000498	rs_121913293	22 SubmittersRCV000169890 RCV000218276 RCV000490574 RCV000678738 RCV000850588 RCV001813763 RCV002273970 RCV002478525 RCV003468848 RCV003448976 RCV005230036 RCV006253868
NM_000314.8(PTEN):c.599T>C (p.Phe200Ser)	SNV Germline	Chr10:87952224	Likely pathogenic	Condition: not provided PTEN hamartoma tumor syndrome Cowden syndrome 1	Reviewed By Expert Panel	CA000532	rs_786204867	5 SubmittersRCV000169807 RCV000802437 RCV003223341
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 Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA000584	rs_786204873	4 SubmittersRCV000169813 RCV001384751 RCV003454433 RCV005462903
NM_000314.8(PTEN):c.802-2A>G	SNV Germline	Chr10:87960892	Pathogenic	Hereditary cancer-predisposing syndrome PTEN hamartoma tumor syndrome Cowden syndrome 1 Condition: not provided Cowden syndrome	Criteria Provided Multiple Submitters No Conflicts	CA000590	rs_587782455	7 SubmittersRCV000491383 RCV000470021 RCV000515982 RCV003884371 RCV005055668
NM_000314.8(PTEN):c.919G>T (p.Glu307Ter)	SNV Germline	Chr10:87961011	Pathogenic	Condition: not provided Cowden syndrome 1 PTEN-related disorder Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA000633	rs_746930141	4 SubmittersRCV000169816 RCV003454434 RCV004535155 RCV005462904
NM_000314.8(PTEN):c.1026+1G>C	SNV Germline	Chr10:87961119	Pathogenic	Cowden syndrome 1 Hereditary cancer-predisposing syndrome Condition: not provided PTEN hamartoma tumor syndrome Melanoma	Criteria Provided Multiple Submitters No Conflicts	CA000253	rs_786201041	5 SubmittersRCV000515893 RCV000570522 RCV001578271 RCV002516536 RCV005889654
NM_006363.6(SEC23B):c.569G>A (p.Arg190Gln)	SNV Germline	Chr20:18524635	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	CA246116	rs_201160833	7 SubmittersRCV000178916 RCV001071842 RCV001141445 RCV004737283
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 Congenital dyserythropoietic anemia, type II Cowden syndrome 7 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.174T>C (p.Asp58=)	SNV Germline	Chr10:87925522	Conflicting classifications of pathogenicity	PTEN hamartoma tumor syndrome Hereditary cancer-predisposing syndrome Condition: not provided Cowden syndrome 1	Criteria Provided Conflicting Classifications	CA059407	rs_769719835	7 SubmittersRCV000195787 RCV000581140 RCV001284055 RCV005425795
NM_000314.8(PTEN):c.860C>G (p.Ser287Ter)	SNV Germline	Chr10:87960952	Pathogenic/Likely pathogenic	Macrocephaly-autism syndrome Bannayan-Riley-Ruvalcaba syndrome Cowden syndrome 1 7 conditions Hereditary cancer-predisposing syndrome PTEN hamartoma tumor syndrome	Criteria Provided Multiple Submitters No Conflicts	CA279050	rs_863224909	4 SubmittersRCV000200784 RCV000763222 RCV004020478 RCV005090018
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 Vascular malformation PIK3CA-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA279138	rs_863225060	6 SubmittersRCV000201238 RCV001221647 RCV002254285 RCV006253883 RCV004737318
NM_006218.4(PIK3CA):c.3129G>T (p.Met1043Ile)	SNV Germline/somatic	Chr3:179234286	Pathogenic	PIK3CA related overgrowth syndrome Cowden syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA210107	rs_121913283	4 SubmittersRCV000201236 RCV000631214 RCV003320599
NM_006218.4(PIK3CA):c.1635G>T (p.Glu545Asp)	SNV Germline/somatic	Chr3:179218305	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	Pheochromocytoma/paraganglioma syndrome 1 Hereditary cancer-predisposing syndrome Hereditary pheochromocytoma and paraganglioma Pheochromocytoma Paragangliomas with sensorineural hearing loss Carney-Stratakis syndrome Cowden syndrome 3 Pheochromocytoma/paraganglioma syndrome 1 Mitochondrial complex 2 deficiency, nuclear type 3 Carney-Stratakis syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA277884	rs_146276662	8 SubmittersRCV000202919 RCV000575031 RCV001105197 RCV003103746 RCV005396627 RCV004998421
NM_003000.3(SDHB):c.65G>C (p.Cys22Ser)	SNV Germline	Chr1:17053955	Conflicting classifications of pathogenicity	Pheochromocytoma/paraganglioma syndrome 4 Gastrointestinal stromal tumor Pheochromocytoma Hereditary cancer-predisposing syndrome Condition: not provided Hereditary pheochromocytoma and paraganglioma Carney-Stratakis syndrome Gastrointestinal stromal tumor Cowden syndrome not specified	Criteria Provided Conflicting Classifications	CA089705	rs_141230910	9 SubmittersRCV000206152 RCV000573095 RCV000596063 RCV001101396 RCV001095936 RCV005361203 RCV006273635
NM_001382430.1(AKT1):c.1394G>A (p.Arg465His)	SNV Germline	Chr14:104770390	Conflicting classifications of pathogenicity	Cowden syndrome 6 Condition: not provided Proteus syndrome Colorectal cancer Cowden syndrome 6 Ovarian cancer Familial cancer of breast	Criteria Provided Conflicting Classifications	CA349773	rs_113547523	4 SubmittersRCV000205643 RCV003237770 RCV005008148
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	Pathogenic	Cowden syndrome PTEN hamartoma tumor syndrome Condition: not provided Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA357779	rs_869312776	5 SubmittersRCV000210082 RCV001853360 RCV003228913 RCV003165516
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	Chr10:87957852	Pathogenic/Likely pathogenic	Condition: not provided Cowden syndrome 1 PTEN hamartoma tumor syndrome Hereditary cancer-predisposing syndrome Squamous cell lung carcinoma	Criteria Provided Multiple Submitters No Conflicts	CA10577419	rs_876661024	9 SubmittersRCV000221132 RCV000515885 RCV000645031 RCV001182324 RCV005895070
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 Hereditary cancer-predisposing syndrome Cowden syndrome 1	Criteria Provided Conflicting Classifications	CA10577425	rs_876661264	8 SubmittersRCV000221425 RCV000231001 RCV000573110 RCV000663026
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/somatic	Chr10:87925551	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome PTEN hamartoma tumor syndrome Cowden syndrome 1 Condition: not provided Diffuse glioma, H3 G34 mutant	Criteria Provided Multiple Submitters No Conflicts	CA10578910	rs_876660634	8 SubmittersRCV000215167 RCV000690989 RCV001332358 RCV001551732 RCV006253919
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	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Pheochromocytoma Carney-Stratakis syndrome Cowden syndrome 3 Paragangliomas with sensorineural hearing loss Pheochromocytoma Hereditary pheochromocytoma and paraganglioma Mitochondrial complex 2 deficiency, nuclear type 3 Pheochromocytoma/paraganglioma syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA10579346	rs_876658477	10 SubmittersRCV000219575 RCV000986022 RCV001294091 RCV002229212 RCV002282052 RCV003475006 RCV006554500
NM_003000.3(SDHB):c.178A>G (p.Thr60Ala)	SNV Germline	Chr1:17044783	Conflicting classifications of pathogenicity	Pheochromocytoma/paraganglioma syndrome 4 Gastrointestinal stromal tumor Pheochromocytoma Hereditary cancer-predisposing syndrome Gastrointestinal stromal tumor Hereditary pheochromocytoma and paraganglioma Carney-Stratakis syndrome Pheochromocytoma/paraganglioma syndrome 4 Condition: not provided not specified SDHB-related disorder Cowden syndrome	Criteria Provided Conflicting Classifications	CA089521	rs_34599281	13 SubmittersRCV000231407 RCV000568901 RCV000626075 RCV001095844 RCV001100086 RCV001294008 RCV001563210 RCV002465589 RCV004732805 RCV005361412
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	3 SubmittersRCV000234288 RCV003454704
NM_003002.4(SDHD):c.51A>C (p.Arg17=)	SNV Germline	Chr11:112086958	Conflicting classifications of pathogenicity	Carney-Stratakis syndrome Paragangliomas with sensorineural hearing loss Cowden syndrome 3 Pheochromocytoma Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA10582867	rs_199890548	2 SubmittersRCV002229352 RCV004668867
NM_003002.4(SDHD):c.361C>T (p.Gln121Ter)	SNV Germline	Chr11:112094851	Pathogenic/Likely pathogenic	Cowden syndrome 3 Paragangliomas with sensorineural hearing loss Pheochromocytoma Carney-Stratakis syndrome Pheochromocytoma	Criteria Provided Multiple Submitters No Conflicts	CA10582872	rs_878854594	2 SubmittersRCV002229350 RCV002288922
NM_006218.4(PIK3CA):c.1490A>G (p.Asn497Ser)	SNV Germline	Chr3:179210516	Conflicting classifications of pathogenicity	Cowden syndrome not specified	Criteria Provided Conflicting Classifications	CA2710731	rs_753879573	2 SubmittersRCV000236695 RCV005434750
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/somatic	Chr3:179199148	Pathogenic/Likely pathogenic	Condition: not provided not specified Megalencephaly-capillary malformation-polymicrogyria syndrome Cowden syndrome See cases Neoplasm Inborn genetic diseases Embryonal rhabdomyosarcoma	Criteria Provided Multiple Submitters No Conflicts	CA10602871	rs_886042002	9 SubmittersRCV000404833 RCV001195259 RCV001353357 RCV001859541 RCV002287404 RCV005230225 RCV006362187 RCV006253937
NM_000314.8(PTEN):c.80A>C (p.Tyr27Ser)	SNV Germline	Chr10:87894025	Likely pathogenic	Condition: not provided PTEN hamartoma tumor syndrome Hereditary cancer-predisposing syndrome Cowden syndrome 1	Reviewed By Expert Panel	CA10603162	rs_886041877	5 SubmittersRCV000355517 RCV001855073 RCV002418104 RCV003454785
NM_000314.8(PTEN):c.634+5G>A	SNV Germline	Chr10:87952264	Pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome PTEN hamartoma tumor syndrome Intellectual disability Familial meningioma Prostate cancer Cowden syndrome 1 Macrocephaly-autism syndrome Glioma susceptibility 2	Reviewed By Expert Panel	CA10603167	rs_138336847	8 SubmittersRCV000285177 RCV000491116 RCV000703228 RCV001526576 RCV002479995
NM_006363.6(SEC23B):c.519G>A (p.Val173=)	SNV Germline	Chr20:18524585	Conflicting classifications of pathogenicity	Condition: not provided Cowden syndrome 7 Congenital dyserythropoietic anemia, type II Congenital dyserythropoietic anemia, type II SEC23B-related disorder	Criteria Provided Conflicting Classifications	CA9778047	rs_138314893	6 SubmittersRCV000395336 RCV001079079 RCV001141444 RCV004547716
NM_003000.3(SDHB):c.700C>T (p.Leu234=)	SNV Germline	Chr1:17022673	Conflicting classifications of pathogenicity	Hereditary pheochromocytoma and paraganglioma Carney-Stratakis syndrome Hereditary cancer-predisposing syndrome Pheochromocytoma/paraganglioma syndrome 4 Gastrointestinal stromal tumor Pheochromocytoma Condition: not provided Pheochromocytoma/paraganglioma syndrome 4 Cowden syndrome	Criteria Provided Conflicting Classifications	CA089712	rs_201728852	11 SubmittersRCV000279182 RCV000317866 RCV000568441 RCV000633984 RCV002061161 RCV003316465 RCV005355619
NM_000314.8(PTEN):c.-111G>T	SNV Germline	Chr10:87864359	Conflicting classifications of pathogenicity	PTEN hamartoma tumor syndrome Cowden syndrome 1 not specified Condition: not provided PTEN-related disorder	Criteria Provided Conflicting Classifications	CA10629379	rs_761148721	7 SubmittersRCV000289601 RCV000663003 RCV001820879 RCV004692947 RCV004734962
NM_000314.8(PTEN):c.-121A>G	SNV Germline	Chr10:87864349	Conflicting classifications of pathogenicity	PTEN hamartoma tumor syndrome not specified Glioma susceptibility 2 Macrocephaly-autism syndrome Prostate cancer Cowden syndrome 1 Familial meningioma Condition: not provided	Criteria Provided Conflicting Classifications	CA10632764	rs_886047395	4 SubmittersRCV000381673 RCV000582981 RCV002480098 RCV006263849
NM_003002.4(SDHD):c.53C>T (p.Ala18Val)	SNV Germline	Chr11:112087857	Conflicting classifications of pathogenicity	Hereditary pheochromocytoma and paraganglioma Condition: not provided Hereditary cancer-predisposing syndrome Cowden syndrome 3 Carney-Stratakis syndrome Pheochromocytoma Paragangliomas with sensorineural hearing loss Pheochromocytoma/paraganglioma syndrome 1 Mitochondrial complex 2 deficiency, nuclear type 3 SDHD-related disorder	Criteria Provided Conflicting Classifications	CA071521	rs_192332761	15 SubmittersRCV000344579 RCV000506525 RCV000571997 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 Cowden syndrome 7 Congenital dyserythropoietic anemia, type II	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 Cowden syndrome 7 Congenital dyserythropoietic anemia, type II Condition: not provided Ovarian serous cystadenocarcinoma	Criteria Provided Conflicting Classifications	CA9778321	rs_146587686	5 SubmittersRCV000282343 RCV000890287 RCV001532448 RCV005896232
NM_006363.6(SEC23B):c.1809A>G (p.Ser603=)	SNV Germline	Chr20:18548674	Conflicting classifications of pathogenicity	Congenital dyserythropoietic anemia, type II Cowden syndrome 7 Congenital dyserythropoietic anemia, type II Condition: not provided	Criteria Provided Conflicting Classifications	CA9778503	rs_139882548	4 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 Cowden syndrome 7 Congenital dyserythropoietic anemia, type II	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 Cowden syndrome 7 Congenital dyserythropoietic anemia, type II Condition: not provided SEC23B-related disorder	Criteria Provided Conflicting Classifications	CA9778252	rs_142461689	6 SubmittersRCV000275527 RCV000945938 RCV001509049 RCV004549773
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 Malignant tumor of urinary bladder Clear cell carcinoma of kidney	Reviewed By Expert Panel	CA16042723	rs_1057517809	7 SubmittersRCV000414617 RCV000491449 RCV000690306 RCV000785587 RCV003449035 RCV005900667 RCV005900668
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	Endometrial carcinoma PTEN hamartoma tumor syndrome Condition: not provided Cowden syndrome 1 Hereditary cancer-predisposing syndrome Neoplasm	Reviewed By Expert Panel	CA16602437	rs_121909224	8 SubmittersRCV000677621 RCV000790885 RCV001796030 RCV001808792 RCV004659022 RCV005230287
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 PTEN-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA060209	rs_121913294	16 SubmittersRCV000490595 RCV000484180 RCV002289517 RCV002338980 RCV004668926 RCV005869414
NM_006218.4(PIK3CA):c.263G>A (p.Arg88Gln)	SNV Germline/somatic	Chr3:179199088	Pathogenic	Ovarian neoplasm Cowden syndrome Condition: not provided PIK3CA related overgrowth syndrome Abnormal cerebral morphology Megalencephaly-capillary malformation-polymicrogyria syndrome Neoplasm CLOVES syndrome Cowden syndrome 5 Pilocytic astrocytoma Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype Medulloblastoma WNT activated Giant cell glioblastoma	Criteria Provided Multiple Submitters No Conflicts	CA16602516	rs_121913287	12 SubmittersRCV000785354 RCV001224952 RCV001562650 RCV002274026 RCV002275002 RCV003225067 RCV004668930 RCV004767253 RCV003995942 RCV006253972 RCV006253973 RCV006253974 RCV006253975
NM_006218.4(PIK3CA):c.3062A>G (p.Tyr1021Cys)	SNV Germline/somatic	Chr3:179234219	Pathogenic	Abnormal cardiovascular system morphology Cowden syndrome Neoplasm Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype	Criteria Provided Single Submitter	CA16602699	rs_121913288	4 SubmittersRCV001327967 RCV001851016 RCV006273725 RCV006253994
NM_006218.4(PIK3CA):c.1357G>A (p.Glu453Lys)	SNV Germline/somatic	Chr3:179210291	Pathogenic	Ovarian neoplasm Megalencephaly-capillary malformation-polymicrogyria syndrome Abnormal cardiovascular system morphology CLOVES syndrome Condition: not provided Cowden syndrome PIK3CA-related disorder PIK3CA related overgrowth syndrome Neoplasm	Criteria Provided Multiple Submitters No Conflicts	CA16602904	rs_1057519925	14 SubmittersRCV000785580 RCV000991209 RCV001327961 RCV001526693 RCV001775789 RCV001861479 RCV002244865 RCV002472374 RCV006273732
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 Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype Dysembryoplastic neuroepithelial tumor Neoplasm	Reviewed By Expert Panel	CA16602910	rs_867262025	12 SubmittersRCV000484330 RCV000624735 RCV001836817 RCV001851018 RCV003152707 RCV003233633 RCV006254011 RCV006254012 RCV006273733
NM_006218.4(PIK3CA):c.241G>A (p.Glu81Lys)	SNV Germline/somatic	Chr3:179199066	Pathogenic	Abnormal cardiovascular system morphology CLOVES syndrome Megalencephaly-capillary malformation-polymicrogyria syndrome Condition: not provided Cowden syndrome PIK3CA related overgrowth syndrome Neoplasm	Criteria Provided Multiple Submitters No Conflicts	CA16602912	rs_1057519929	8 SubmittersRCV001327958 RCV001526599 RCV001542570 RCV001837893 RCV002524695 RCV003458199 RCV005230297
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 Somatic	Chr3:179199156	Conflicting classifications of pathogenicity	Cowden syndrome 5 PIK3CA related overgrowth syndrome Diffuse midline glioma, H3 K27M-mutant	Criteria Provided Conflicting Classifications	CA16602916	rs_1057519933	3 SubmittersRCV003147452 RCV005251125 RCV006254013
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 Intestinal duplication Abnormality of the hairline Hypertelorism Diaphragmatic eventration 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	Hereditary cancer-predisposing syndrome Condition: not provided PTEN hamartoma tumor syndrome Cowden syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA16602940	rs_121909229	11 SubmittersRCV000490825 RCV000482735 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	15 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	5 SubmittersRCV000427194 RCV000580562 RCV000921932 RCV002470856
NM_000314.8(PTEN):c.1161A>G (p.Pro387=)	SNV Germline	Chr10:87965421	Conflicting classifications of pathogenicity	PTEN hamartoma tumor syndrome Hereditary cancer-predisposing syndrome Condition: not provided Cowden syndrome 1 Macrocephaly-autism syndrome Familial meningioma Cowden syndrome 1 Glioma susceptibility 2 Familial prostate cancer	Criteria Provided Conflicting Classifications	CA16605993	rs_1057523975	9 SubmittersRCV000526355 RCV000565755 RCV001712302 RCV005426012 RCV005398557
NM_000314.8(PTEN):c.164+1G>T	SNV Germline	Chr10:87894110	Pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome PTEN hamartoma tumor syndrome Cowden syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA16606092	rs_1554893835	4 SubmittersRCV000433720 RCV000491416 RCV002521586 RCV003449057
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	Pheochromocytoma/paraganglioma syndrome 4 Pheochromocytoma Gastrointestinal stromal tumor Hereditary cancer-predisposing syndrome Cowden syndrome Pheochromocytoma Condition: not provided not specified Hereditary pheochromocytoma and paraganglioma Gastrointestinal stromal tumor Carney-Stratakis syndrome Pheochromocytoma/paraganglioma syndrome 4 Mitochondrial complex 2 deficiency, nuclear type 4 Gastrointestinal stromal tumor	Criteria Provided Conflicting Classifications	CA089628	rs_774568101	11 SubmittersRCV000469133 RCV000492611 RCV000708786 RCV001294088 RCV001755709 RCV002282162 RCV004001997 RCV004568126 RCV005398640
NM_006218.4(PIK3CA):c.140A>G (p.His47Arg)	SNV Germline	Chr3:179198965	Conflicting classifications of pathogenicity	Cowden syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA2710500	rs_190372148	2 SubmittersRCV000460046 RCV002223207
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.783G>A (p.Gln261=)	SNV Germline	Chr10:87958001	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided PTEN hamartoma tumor syndrome PTEN-related disorder Cowden syndrome 1	Criteria Provided Conflicting Classifications	CA060472	rs_760146269	8 SubmittersRCV000573992 RCV000831556 RCV001080099 RCV004533205 RCV005421820
NM_000314.8(PTEN):c.175T>C (p.Ser59Pro)	SNV Germline	Chr10:87925523	Conflicting classifications of pathogenicity	PTEN hamartoma tumor syndrome Cowden syndrome 1	Criteria Provided Conflicting Classifications	CA16613153	rs_1060500118	2 SubmittersRCV000464900 RCV006550072
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 Familial prostate cancer Cowden syndrome 1 Macrocephaly-autism syndrome Glioma susceptibility 2 Familial meningioma	Criteria Provided Multiple Submitters No Conflicts	CA16613155	rs_1060500116	4 SubmittersRCV000473713 RCV002402229 RCV003449109 RCV005044654
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_000314.8(PTEN):c.801+9T>C	SNV Germline	Chr10:87958028	Conflicting classifications of pathogenicity	PTEN hamartoma tumor syndrome Hereditary cancer-predisposing syndrome not specified Breast and/or ovarian cancer Cowden syndrome 1	Criteria Provided Conflicting Classifications	CA16613170	rs_1060503839	5 SubmittersRCV000466158 RCV000579558 RCV000615229 RCV001798843 RCV005421817
NM_003002.4(SDHD):c.315G>A (p.Trp105Ter)	SNV Germline	Chr11:112094805	Pathogenic	Pheochromocytoma Cowden syndrome 3 Carney-Stratakis syndrome Paragangliomas with sensorineural hearing loss 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 PTEN hamartoma tumor syndromes Condition: not provided Gastric cancer Cowden syndrome 1 Macrocephaly-autism syndrome Papillary tumor of the pineal region Glioma susceptibility 2 Cowden syndrome	Reviewed By Expert Panel	CA16613246	rs_1060500126	20 SubmittersRCV000475421 RCV000656112 RCV001022838 RCV001258059 RCV001092596 RCV003168731 RCV003326136 RCV003492047 RCV003470396 RCV006252452
NM_000314.8(PTEN):c.517C>A (p.Arg173Ser)	SNV Germline	Chr10:87952142	Conflicting classifications of pathogenicity	PTEN hamartoma tumor syndrome Cowden syndrome 1	Criteria Provided Conflicting Classifications	CA16613248	rs_121913293	2 SubmittersRCV000460834 RCV005252897
NM_003002.4(SDHD):c.270G>C (p.Ala90=)	SNV Germline	Chr11:112088967	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Cowden syndrome 3 Carney-Stratakis syndrome Paragangliomas with sensorineural hearing loss Pheochromocytoma Hereditary pheochromocytoma and paraganglioma Pheochromocytoma/paraganglioma syndrome 1	Criteria Provided Conflicting Classifications	CA070986	rs_766656463	5 SubmittersRCV002431384 RCV002231076 RCV004002233 RCV005421922
NM_003002.4(SDHD):c.325C>T (p.Gln109Ter)	SNV Germline	Chr11:112094815	Pathogenic	Hereditary cancer-predisposing syndrome Cowden syndrome 3 Carney-Stratakis syndrome Paragangliomas with sensorineural hearing loss Pheochromocytoma	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 Cowden syndrome 3 Carney-Stratakis syndrome Paragangliomas with sensorineural hearing loss Pheochromocytoma Pheochromocytoma/paraganglioma syndrome 1 Mitochondrial complex 2 deficiency, nuclear type 3 Pheochromocytoma/paraganglioma syndrome 1 Mitochondrial complex 2 deficiency, nuclear type 3 Carney-Stratakis syndrome Hereditary pheochromocytoma and paraganglioma	Criteria Provided Conflicting Classifications	CA071246	rs_201869798	8 SubmittersRCV000565076 RCV001591105 RCV002230665 RCV003325203 RCV003476144 RCV005398641 RCV006550152
NM_000314.8(PTEN):c.759C>T (p.Ile253=)	SNV Germline	Chr10:87957977	Conflicting classifications of pathogenicity	PTEN hamartoma tumor syndrome Hereditary cancer-predisposing syndrome not specified Cowden syndrome 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA060465	rs_752250585	8 SubmittersRCV000469547 RCV000491272 RCV006273792 RCV005421822 RCV006260002
NM_003002.4(SDHD):c.269C>A (p.Ala90Glu)	SNV Germline	Chr11:112088966	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Microcephaly Cowden syndrome 3 Carney-Stratakis syndrome Paragangliomas with sensorineural hearing loss Pheochromocytoma Condition: not provided Hereditary pheochromocytoma and paraganglioma	Criteria Provided Conflicting Classifications	CA070965	rs_200255724	5 SubmittersRCV001016345 RCV001252746 RCV002230664 RCV003235231 RCV006550151
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 Cowden syndrome 3 Carney-Stratakis syndrome Paragangliomas with sensorineural hearing loss Pheochromocytoma Cowden syndrome Hereditary pheochromocytoma and paraganglioma	Criteria Provided Conflicting Classifications	CA070974	rs_200255724	7 SubmittersRCV000562410 RCV001584171 RCV001821298 RCV002230663 RCV005355869 RCV006550150
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 Cowden syndrome 3 Carney-Stratakis syndrome Paragangliomas with sensorineural hearing loss Pheochromocytoma Pheochromocytoma/paraganglioma syndrome 1 Mitochondrial complex 2 deficiency, nuclear type 3 Hereditary pheochromocytoma and paraganglioma	Criteria Provided Conflicting Classifications	CA070935	rs_199517389	10 SubmittersRCV000508222 RCV000562051 RCV001328335 RCV002230195 RCV003153649 RCV003476141 RCV004002008
NM_006218.4(PIK3CA):c.278G>A (p.Arg93Gln)	SNV Germline/somatic	Chr3:179199103	Pathogenic	Condition: not provided Global developmental delay Hypospadias Macrocephaly Cowden syndrome 5 Neuroblastoma	Criteria Provided Multiple Submitters No Conflicts	CA16617846	rs_1064793663	4 SubmittersRCV000487221 RCV002464207 RCV005252905 RCV006254062
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 PIK3CA related overgrowth syndrome Neoplasm	Criteria Provided Multiple Submitters No Conflicts	CA16617848	rs_1064793732	10 SubmittersRCV000484163 RCV000798360 RCV000785369 RCV001526558 RCV002254298 RCV004535503 RCV005251138 RCV006273822
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.45A>T (p.Arg15Ser)	SNV Germline	Chr10:87864514	Pathogenic/Likely pathogenic	Condition: not provided PTEN hamartoma tumor syndrome Hereditary cancer-predisposing syndrome Cowden syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA16619041	rs_1064794096	4 SubmittersRCV000480969 RCV001047309 RCV003298549 RCV006633918
NM_000314.8(PTEN):c.209+1G>A	SNV Germline	Chr10:87925558	Pathogenic/Likely pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Familial meningioma PTEN hamartoma tumor syndrome Familial meningioma Glioma susceptibility 2 Prostate cancer Cowden syndrome 1 Macrocephaly-autism syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16619047	rs_1554897280	6 SubmittersRCV000482154 RCV000491897 RCV001197835 RCV001219616 RCV002489144
NM_000314.8(PTEN):c.323T>C (p.Leu108Pro)	SNV Germline	Chr10:87933082	Pathogenic/Likely pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome PTEN hamartoma tumor syndrome Malignant tumor of breast Cowden syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA16619052	rs_1064793243	6 SubmittersRCV000479867 RCV000490832 RCV000688225 RCV001357264 RCV003449170
NM_000314.8(PTEN):c.454C>T (p.Leu152=)	SNV Germline	Chr10:87933213	Conflicting classifications of pathogenicity	Condition: not provided PTEN hamartoma tumor syndrome Hereditary cancer-predisposing syndrome Cowden syndrome 1	Criteria Provided Conflicting Classifications	CA16619054	rs_1064795450	4 SubmittersRCV000486635 RCV001477457 RCV002329154 RCV005421942
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 Macrocephaly-autism syndrome Familial meningioma Prostate cancer Cowden syndrome 1 Glioma susceptibility 2 not specified PTEN-related disorder	Criteria Provided Conflicting Classifications	CA16619066	rs_1064794436	11 SubmittersRCV000480358 RCV000526594 RCV000561633 RCV002475934 RCV002268122 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_000314.8(PTEN):c.*6T>C	SNV Germline	Chr10:87965478	Conflicting classifications of pathogenicity	not specified Cowden syndrome 1	Criteria Provided Conflicting Classifications	CA16619074	rs_1064794975	2 SubmittersRCV000478610 RCV005421938
NM_003002.4(SDHD):c.1A>T (p.Met1Leu)	SNV Germline	Chr11:112086908	Pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Carney-Stratakis syndrome Pheochromocytoma Cowden syndrome 3 Paragangliomas with sensorineural hearing loss	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 Cowden syndrome 3 Carney-Stratakis syndrome Paragangliomas with sensorineural hearing loss 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/Likely pathogenic	PTEN hamartoma tumor syndrome Condition: not provided Cowden syndrome	Criteria Provided Multiple Submitters No Conflicts	CA377784538	rs_1085308042	4 SubmittersRCV000490575 RCV001092593 RCV003492073
NM_000314.8(PTEN):c.165-2A>G	SNV Germline	Chr10:87925511	Pathogenic	PTEN hamartoma tumor syndrome Hereditary cancer-predisposing syndrome Cowden syndrome 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA377784973	rs_1085308043	5 SubmittersRCV000490612 RCV001012591 RCV000516092 RCV000657856
NM_000314.8(PTEN):c.253+1G>C	SNV Germline	Chr10:87931090	Pathogenic	Cowden syndrome 1 PTEN hamartoma tumor syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA377481417	rs_587776667	3 SubmittersRCV003316641 RCV000490594 RCV000491885
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	Chr10:87957850	Likely pathogenic	PTEN hamartoma tumor syndrome Condition: not provided Hereditary cancer-predisposing syndrome Melanoma Cowden syndrome 1	Reviewed By Expert Panel	CA645294060	rs_1085308056	8 SubmittersRCV000490589 RCV000853544 RCV000491647 RCV005899738 RCV004591433
NM_000314.8(PTEN):c.635-1G>A	SNV Germline	Chr10:87957852	Pathogenic/Likely pathogenic	PTEN hamartoma tumor syndrome Condition: not provided Cowden syndrome 1 Hereditary cancer-predisposing syndrome Cervical cancer Pigmentary skin disorders	Criteria Provided Multiple Submitters No Conflicts	CA377484748	rs_876661024	7 SubmittersRCV000490578 RCV001591129 RCV003449267 RCV004659069 RCV005899737 RCV006450205
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 Clear cell carcinoma of kidney	Criteria Provided Multiple Submitters No Conflicts	CA377487088	rs_1085308041	10 SubmittersRCV000490606 RCV000491514 RCV000522568 RCV003449264 RCV005899736
NM_000314.8(PTEN):c.165-1G>C	SNV Germline	Chr10:87925512	Pathogenic	Cowden syndrome 1 PTEN hamartoma tumor syndrome Hereditary cancer-predisposing syndrome Condition: not provided Cowden syndrome	Reviewed By Expert Panel	CA377784976	rs_786203847	7 SubmittersRCV000516009 RCV001172259 RCV001525989 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	6 SubmittersRCV000491938 RCV000516142 RCV001050316 RCV001358192
NM_000314.8(PTEN):c.210-1G>A	SNV Germline/somatic	Chr10:87931045	Pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Cowden syndrome 1 PTEN hamartoma tumor syndrome Familial prostate cancer	Criteria Provided Multiple Submitters No Conflicts	CA377481229	rs_1114167621	8 SubmittersRCV000491234 RCV000507780 RCV000515846 RCV000645050 RCV005899739
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	Condition: not provided Cowden syndrome 1 PTEN hamartoma tumor syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA645553783	rs_1554897889	6 SubmittersRCV001800709 RCV000515839 RCV000684984 RCV004659070
NM_000314.8(PTEN):c.492+1G>T	SNV Germline	Chr10:87933252	Pathogenic	PTEN hamartoma tumor syndrome Cowden syndrome 1 Familial meningioma Glioma susceptibility 1 Condition: not provided Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA377482840	rs_1554898242	9 SubmittersRCV001172261 RCV000516072 RCV001292844 RCV005899740 RCV003326441 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 Glioma susceptibility 2 Familial prostate cancer Macrocephaly-autism syndrome Familial meningioma Cowden syndrome 1 Familial cancer of breast	Reviewed By Expert Panel	CA377484731	rs_727504114	6 SubmittersRCV000516099 RCV001172260 RCV002356807 RCV005044738 RCV005899741
NM_000314.8(PTEN):c.634+4A>T	SNV Germline/somatic	Chr10:87952263	Pathogenic	Cowden syndrome 1 Neoplasm	No Assertion Criteria Provided	CA658656106	rs_1554900675	2 SubmittersRCV000515852 RCV005230957
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/Likely pathogenic	Cowden syndrome 1 PTEN hamartoma tumor syndrome not specified Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA377487087	rs_1085308041	5 SubmittersRCV000516120 RCV001214733 RCV000506504 RCV006424626
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	Neoplasm Cowden syndrome 1 Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA377481230	rs_1114167621	3 SubmittersRCV004669003 RCV003449277 RCV000491942
NM_000314.8(PTEN):c.328C>T (p.Gln110Ter)	SNV Germline/somatic	Chr10:87933087	Pathogenic	Hereditary cancer-predisposing syndrome Neoplasm Glioma susceptibility 2 Cowden syndrome 1 PTEN hamartoma tumor syndrome	Criteria Provided Multiple Submitters No Conflicts	CA377482195	rs_1114167629	6 SubmittersRCV000491715 RCV005230962 RCV003470597 RCV003338616 RCV000537933
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 Condition: not provided	Reviewed By Expert Panel	CA377482278	rs_786204931	5 SubmittersRCV000491887 RCV000693998 RCV001332360 RCV005641649
NM_000314.8(PTEN):c.404T>A (p.Ile135Lys)	SNV Germline	Chr10:87933163	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Macrocephaly-autism syndrome Familial meningioma Glioma susceptibility 2 Cowden syndrome 1 Prostate cancer	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 Condition: not provided Macrocephaly-autism syndrome Cowden syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA377482775	rs_398123325	4 SubmittersRCV000490957 RCV005091018 RCV003447532 RCV003449273
NM_000314.8(PTEN):c.493G>A (p.Gly165Arg)	SNV Germline/somatic	Chr10:87952118	Pathogenic	PTEN hamartoma tumor syndrome Hereditary cancer-predisposing syndrome Condition: not provided Cowden syndrome 1 Malignant tumor of urinary bladder Glioma susceptibility 2	Reviewed By Expert Panel	CA377484223	rs_587782603	7 SubmittersRCV000690443 RCV000491530 RCV000522601 RCV003139692 RCV003332184 RCV004568616
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	Chr10:87961120	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome PTEN hamartoma tumor syndrome Condition: not provided Cowden syndrome 1 Uterine carcinosarcoma	Criteria Provided Multiple Submitters No Conflicts	CA377486192	rs_1114167624	5 SubmittersRCV000491037 RCV000802995 RCV001528106 RCV003449272 RCV005899750
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 Carney-Stratakis syndrome Pheochromocytoma Cowden syndrome 3 Paragangliomas with sensorineural hearing loss 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 PTEN hamartoma tumor syndrome	Criteria Provided Multiple Submitters No Conflicts	CA377482826	rs_1554898235	3 SubmittersRCV000497908 RCV003449392 RCV005091058
NM_003002.4(SDHD):c.148C>G (p.His50Asp)	SNV Germline	Chr11:112087952	Conflicting classifications of pathogenicity	Condition: not provided Hereditary pheochromocytoma and paraganglioma Hereditary cancer-predisposing syndrome Pheochromocytoma Paragangliomas with sensorineural hearing loss Carney-Stratakis syndrome Cowden syndrome 3 Pheochromocytoma/paraganglioma syndrome 1	Criteria Provided Conflicting Classifications	CA382617089	rs_779249550	8 SubmittersRCV000497964 RCV000505346 RCV000569506 RCV002230973 RCV005600958
NM_003002.4(SDHD):c.170-1G>T	SNV Germline	Chr11:112088866	Pathogenic	Hereditary pheochromocytoma and paraganglioma Paragangliomas with sensorineural hearing loss Cowden syndrome 3 Carney-Stratakis syndrome Pheochromocytoma Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA382617149	rs_1306475361	4 SubmittersRCV000505295 RCV002524414 RCV002413385
NM_003002.4(SDHD):c.239T>G (p.Leu80Arg)	SNV Germline	Chr11:112088936	Pathogenic	Hereditary pheochromocytoma and paraganglioma Paragangliomas with sensorineural hearing loss Cowden syndrome 3 Carney-Stratakis syndrome Pheochromocytoma	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 and paraganglioma Hereditary cancer-predisposing syndrome Paragangliomas with sensorineural hearing loss Cowden syndrome 3 Carney-Stratakis syndrome Pheochromocytoma	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 and paraganglioma not specified Hereditary cancer-predisposing syndrome Paragangliomas with sensorineural hearing loss Cowden syndrome 3 Carney-Stratakis syndrome Pheochromocytoma	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	PTEN hamartoma tumor syndrome not specified Cowden syndrome 1 Hereditary cancer-predisposing syndrome Colon adenocarcinoma	Criteria Provided Multiple Submitters No Conflicts	CA377484747	rs_876661024	5 SubmittersRCV001067779 RCV000507343 RCV003449453 RCV002367698 RCV005900973
NM_000314.8(PTEN):c.656A>C (p.Gln219Pro)	SNV Germline	Chr10:87957874	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome PTEN hamartoma tumor syndrome Condition: not provided Cowden syndrome 1	Criteria Provided Conflicting Classifications	CA377484796	rs_1554825172	4 SubmittersRCV000777175 RCV003509557 RCV005620369 RCV005869577
NM_003001.5(SDHC):c.264G>A (p.Ser88=)	SNV Germline	Chr1:161356699	Conflicting classifications of pathogenicity	Gastrointestinal stromal tumor Pheochromocytoma/paraganglioma syndrome 3 Hereditary cancer-predisposing syndrome Pheochromocytoma/paraganglioma syndrome 3 Cowden syndrome Hereditary pheochromocytoma and paraganglioma	Criteria Provided Conflicting Classifications	CA421501010	rs_1277488324	5 SubmittersRCV000532664 RCV001016207 RCV005422046 RCV005357589 RCV006550354
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	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_000314.8(PTEN):c.1107T>C (p.Val369=)	SNV Germline	Chr10:87965367	Conflicting classifications of pathogenicity	PTEN hamartoma tumor syndrome Hereditary cancer-predisposing syndrome Condition: not provided Cowden syndrome 1	Criteria Provided Conflicting Classifications	CA470671248	rs_1554826048	4 SubmittersRCV000537864 RCV000561004 RCV005000182 RCV005422052
NM_003002.4(SDHD):c.228C>T (p.Leu76=)	SNV Germline	Chr11:112088925	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Hereditary pheochromocytoma and paraganglioma Carney-Stratakis syndrome Pheochromocytoma Paragangliomas with sensorineural hearing loss Cowden syndrome 3 Pheochromocytoma/paraganglioma syndrome 1	Criteria Provided Conflicting Classifications	CA070883	rs_148634289	6 SubmittersRCV000563638 RCV001106324 RCV002231787 RCV005422044
NM_000314.8(PTEN):c.625G>T (p.Gly209Ter)	SNV Germline	Chr10:87952250	Pathogenic/Likely pathogenic	PTEN hamartoma tumor syndrome Cowden syndrome 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA377484690	rs_765433422	3 SubmittersRCV000543987 RCV003451173 RCV006277892
NM_003002.4(SDHD):c.413G>T (p.Gly138Val)	SNV Germline	Chr11:112094903	Conflicting classifications of pathogenicity	Pheochromocytoma Cowden syndrome 3 Carney-Stratakis syndrome Paragangliomas with sensorineural hearing loss Hereditary pheochromocytoma and 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	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Cowden syndrome 1 PTEN hamartoma tumor syndrome	Criteria Provided Conflicting Classifications	CA377785062	rs_876660634	3 SubmittersRCV000561145 RCV001028048 RCV006463374
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 PTEN hamartoma tumor syndrome	Criteria Provided Multiple Submitters No Conflicts	CA377482210	rs_1554898097	4 SubmittersRCV000571971 RCV003225092 RCV003451265 RCV005429255
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 Cowden syndrome 1 PTEN hamartoma tumor syndrome	Reviewed By Expert Panel	CA377784477	rs_1554893792	6 SubmittersRCV000565926 RCV001251390 RCV001559024 RCV003451291 RCV003451292
NM_000314.8(PTEN):c.1005A>G (p.Arg335=)	SNV Germline	Chr10:87961097	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome PTEN hamartoma tumor syndrome Cowden syndrome 1	Criteria Provided Conflicting Classifications	CA470974120	rs_1303065649	5 SubmittersRCV000567153 RCV001351336 RCV005357650
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.*5T>C	SNV Germline	Chr11:112094975	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided SDHD-related disorder Hereditary pheochromocytoma and paraganglioma Cowden syndrome Pheochromocytoma/paraganglioma syndrome 1	Criteria Provided Conflicting Classifications	CA071542	rs_201987672	8 SubmittersRCV000575659 RCV001284061 RCV003962625 RCV004000902 RCV005357652 RCV005427005
NM_003002.4(SDHD):c.314+1G>T	SNV Germline	Chr11:112089012	Pathogenic	Hereditary cancer-predisposing syndrome Carney-Stratakis syndrome Cowden syndrome 3 Pheochromocytoma Paragangliomas with sensorineural hearing loss	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 Cowden syndrome 3 Pheochromocytoma Carney-Stratakis syndrome Paragangliomas with sensorineural hearing loss Hereditary pheochromocytoma and paraganglioma not specified	Criteria Provided Conflicting Classifications	CA658658106	rs_1555187084	5 SubmittersRCV000566193 RCV002526918 RCV004802240 RCV005231107
NM_003002.4(SDHD):c.317G>T (p.Gly106Val)	SNV Germline	Chr11:112094807	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Pheochromocytoma/paraganglioma syndrome 1 Paragangliomas with sensorineural hearing loss Carney-Stratakis syndrome Pheochromocytoma Cowden syndrome 3 SDHD-related disorder Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA382618730	rs_1555187574	6 SubmittersRCV000561906 RCV000660262 RCV002232089 RCV003420005 RCV004808786
NM_000314.8(PTEN):c.1098A>C (p.Thr366=)	SNV Germline	Chr10:87965358	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome PTEN hamartoma tumor syndrome Condition: not provided Cowden syndrome 1	Criteria Provided Conflicting Classifications	CA470671176	rs_1554826045	6 SubmittersRCV000584599 RCV001477897 RCV001775910 RCV005427114
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 PTEN hamartoma tumor syndrome Cowden syndrome 1 Glioma susceptibility 2	Criteria Provided Multiple Submitters No Conflicts	CA377484465	rs_1554900615	4 SubmittersRCV000584402 RCV002530820 RCV003451322 RCV003465315
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.*10T>A	SNV Germline	Chr10:87965482	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Cowden syndrome 1	Criteria Provided Conflicting Classifications	CA059170	rs_769236743	5 SubmittersRCV000587263 RCV000777646 RCV005422813
NM_000314.8(PTEN):c.228T>C (p.Tyr76=)	SNV Germline	Chr10:87931064	Conflicting classifications of pathogenicity	not specified PTEN hamartoma tumor syndrome Hereditary cancer-predisposing syndrome Cowden syndrome 1	Criteria Provided Conflicting Classifications	CA470659998	rs_1554897866	6 SubmittersRCV000604162 RCV001471220 RCV002256407 RCV005422843
NM_000314.8(PTEN):c.369C>T (p.His123=)	SNV Germline	Chr10:87933128	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome PTEN hamartoma tumor syndrome Condition: not provided Cowden syndrome 1	Criteria Provided Conflicting Classifications	CA470661796	rs_1085308045	5 SubmittersRCV000605962 RCV001020913 RCV002066612 RCV003334018 RCV005427160
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_006218.4(PIK3CA):c.931A>G (p.Ile311Val)	SNV Germline	Chr3:179203661	Conflicting classifications of pathogenicity	Cowden syndrome not specified	Criteria Provided Conflicting Classifications	CA2710610	rs_201238717	2 SubmittersRCV000631213 RCV005435074
NM_000314.8(PTEN):c.801G>T (p.Lys267Asn)	SNV Germline	Chr10:87958019	Pathogenic	PTEN hamartoma tumor syndrome Condition: not provided Hereditary cancer-predisposing syndrome Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome Cowden syndrome	Reviewed By Expert Panel	CA377485115	rs_1554825266	7 SubmittersRCV000645055 RCV001312161 RCV002422336 RCV005367480
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_000314.8(PTEN):c.774C>T (p.Phe258=)	SNV Germline	Chr10:87957992	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome PTEN hamartoma tumor syndrome Cowden syndrome 1	Criteria Provided Conflicting Classifications	CA470669983	rs_1554825246	4 SubmittersRCV000645094 RCV001026782 RCV001481854 RCV005427208
NM_000314.8(PTEN):c.1092T>G (p.Ser364=)	SNV Germline	Chr10:87965352	Conflicting classifications of pathogenicity	PTEN hamartoma tumor syndrome Hereditary cancer-predisposing syndrome Cowden syndrome 1	Criteria Provided Conflicting Classifications	CA470671131	rs_1355576298	4 SubmittersRCV000645088 RCV004944046 RCV005427206
NM_000314.8(PTEN):c.681C>T (p.Ser227=)	SNV Germline	Chr10:87957899	Conflicting classifications of pathogenicity	PTEN hamartoma tumor syndrome Hereditary cancer-predisposing syndrome Cowden syndrome 1	Criteria Provided Conflicting Classifications	CA060394	rs_768662424	4 SubmittersRCV000645079 RCV006424642 RCV005422904
NM_003002.4(SDHD):c.315-3T>C	SNV Germline	Chr11:112094802	Conflicting classifications of pathogenicity	Carney-Stratakis syndrome Cowden syndrome 3 Pheochromocytoma Paragangliomas with sensorineural hearing loss Hereditary cancer-predisposing syndrome Pheochromocytoma/paraganglioma syndrome 1 Hereditary pheochromocytoma and paraganglioma	Criteria Provided Conflicting Classifications	CA658797782	rs_1555187565	4 SubmittersRCV002233494 RCV003162885 RCV005427194 RCV006552578
NM_006363.6(SEC23B):c.1404+5G>A	SNV Germline	Chr20:18535747	Likely pathogenic	Congenital dyserythropoietic anemia, type II Cowden syndrome 7	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	Congenital dyserythropoietic anemia, type II Cowden syndrome 7 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	CA377481312	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 Cowden syndrome 1 Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA377482058	rs_1554898056	4 SubmittersRCV000657581 RCV001855357 RCV003451601 RCV004026011
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	CA377482365	rs_1554898161	3 SubmittersRCV000657582 RCV000699906 RCV003451602
NM_000314.8(PTEN):c.464A>C (p.Tyr155Ser)	SNV Germline	Chr10:87933223	Pathogenic/Likely pathogenic	Cowden syndrome 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA377482777	rs_1060500126	2 SubmittersRCV000660235 RCV006260959
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	CA2710603	rs_765030404	2 SubmittersRCV000692375 RCV002532213
NM_003002.4(SDHD):c.3G>A (p.Met1Ile)	SNV Germline	Chr11:112086910	Pathogenic	Carney-Stratakis syndrome Cowden syndrome 3 Pheochromocytoma Paragangliomas with sensorineural hearing loss Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA382616604	rs_80338842	2 SubmittersRCV002232947 RCV002369946
NM_003002.4(SDHD):c.314+5G>A	SNV Germline	Chr11:112089016	Conflicting classifications of pathogenicity	Condition: not provided Carney-Stratakis syndrome Cowden syndrome 3 Pheochromocytoma Paragangliomas with sensorineural hearing loss	Criteria Provided Conflicting Classifications	CA658655598	rs_1566695035	2 SubmittersRCV001775957 RCV002544813
NM_003002.4(SDHD):c.416T>G (p.Leu139Arg)	SNV Germline	Chr11:112094906	Likely pathogenic	Carney-Stratakis syndrome Cowden syndrome 3 Pheochromocytoma Paragangliomas with sensorineural hearing loss	Criteria Provided Single Submitter	CA382619304	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	CA377484273	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 Cowden syndrome 3 Pheochromocytoma Paragangliomas with sensorineural hearing loss Condition: not provided Hereditary cancer-predisposing syndrome Pheochromocytoma/paraganglioma syndrome 1	Criteria Provided Conflicting Classifications	CA382618914	rs_1566702512	4 SubmittersRCV002547102 RCV003389826 RCV005722178 RCV005427242
NM_000314.8(PTEN):c.275A>G (p.Asp92Gly)	SNV Germline	Chr10:87933034	Pathogenic/Likely pathogenic	PTEN hamartoma tumor syndrome Hereditary cancer-predisposing syndrome Cowden syndrome 4	Criteria Provided Multiple Submitters No Conflicts	CA377482085	rs_1114167623	3 SubmittersRCV000685656 RCV002440420 RCV006554574
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	CA377485003	rs_121909239	4 SubmittersRCV000698131 RCV002388286 RCV003479201
NM_000314.8(PTEN):c.959T>A (p.Leu320Ter)	SNV Germline	Chr10:87961051	Pathogenic	PTEN hamartoma tumor syndrome Hereditary cancer-predisposing syndrome Cowden syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA377485994	rs_1114167667	3 SubmittersRCV000698110 RCV004026431 RCV003453474
NM_000314.8(PTEN):c.144C>A (p.Asn48Lys)	SNV Germline	Chr10:87894089	Pathogenic/Likely pathogenic	PTEN hamartoma tumor syndrome Hereditary cancer-predisposing syndrome Cowden syndrome 1 Glioma susceptibility 2	Criteria Provided Multiple Submitters No Conflicts	CA501151	rs_762518389	5 SubmittersRCV000704361 RCV001011640 RCV003453494 RCV003465631
NM_000314.8(PTEN):c.210-2A>G	SNV Germline	Chr10:87931044	Pathogenic/Likely pathogenic	PTEN hamartoma tumor syndrome Condition: not provided Hereditary cancer-predisposing syndrome Cowden syndrome 1 Melanoma	Criteria Provided Multiple Submitters No Conflicts	CA377481223	rs_1564828914	5 SubmittersRCV000698937 RCV001542802 RCV002422549 RCV003229600 RCV005901710
NM_000314.8(PTEN):c.385G>C (p.Gly129Arg)	SNV Germline	Chr10:87933144	Pathogenic	Cowden syndrome 1 PTEN hamartoma tumor syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA377482316	rs_786204929	3 SubmittersRCV000991299 RCV001257205 RCV002354897
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	CA408363915	rs_1568617456	3 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	CA267350808	rs_377076374	2 SubmittersRCV000706963 RCV004692197
NM_006363.6(SEC23B):c.1665+6T>C	SNV Germline	Chr20:18543178	Conflicting classifications of pathogenicity	Congenital dyserythropoietic anemia, type II Cowden syndrome 7 SEC23B-related disorder Sarcoma Congenital dyserythropoietic anemia, type II Condition: not provided	Criteria Provided Conflicting Classifications	CA9778440	rs_371786580	7 SubmittersRCV000692503 RCV004737954 RCV005901665 RCV001141559 RCV001811442
NM_003000.3(SDHB):c.769C>G (p.Leu257Val)	SNV Germline	Chr1:17018955	Conflicting classifications of pathogenicity	Cowden syndrome Gastrointestinal stromal tumor Pheochromocytoma Pheochromocytoma/paraganglioma syndrome 4 Mitochondrial complex 2 deficiency, nuclear type 4 Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA089764	rs_761350633	6 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	CA377785078	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	CA377484745	rs_1564566706	7 SubmittersRCV000729356 RCV000792482 RCV003453520
NM_000314.8(PTEN):c.*1A>T	SNV Germline	Chr10:87965473	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Cowden syndrome 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA594924010	rs_1452888068	3 SubmittersRCV000774549 RCV005422980 RCV006261038
NM_000314.8(PTEN):c.654C>A (p.Cys218Ter)	SNV Germline/somatic	Chr10:87957872	Pathogenic	Cowden syndrome 1 Condition: not provided PTEN hamartoma tumor syndrome Familial meningioma Glioma susceptibility 2 Cowden syndrome 1 Macrocephaly-autism syndrome Familial prostate cancer Neoplasm	Criteria Provided Multiple Submitters No Conflicts	CA377484791	rs_1554825165	6 SubmittersRCV000778090 RCV003222126 RCV003509605 RCV004796303 RCV006274022
NM_006363.6(SEC23B):c.1201C>T (p.Arg401Ter)	SNV Germline	Chr20:18530771	Pathogenic	Congenital dyserythropoietic anemia, type II Condition: not provided Cowden syndrome 7 Congenital dyserythropoietic anemia, type II	Criteria Provided Multiple Submitters No Conflicts	CA408361779	rs_1403456625	4 SubmittersRCV000779340 RCV001509050 RCV003768444
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 Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA377486187	rs_786201041	6 SubmittersRCV000786804 RCV001220442 RCV003453623 RCV005470513
NM_000314.8(PTEN):c.1027-2A>T	SNV Germline	Chr10:87965285	Pathogenic/Likely pathogenic	Condition: not provided Cowden syndrome 1 PTEN hamartoma tumor syndrome Squamous cell lung carcinoma	Criteria Provided Multiple Submitters No Conflicts	CA377487089	rs_1085308041	4 SubmittersRCV000786803 RCV003453622 RCV006249686 RCV005901913
NM_006218.4(PIK3CA):c.2667A>G (p.Ile889Met)	SNV Germline	Chr3:179230004	Conflicting classifications of pathogenicity	Cowden syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA2711006	rs_17849078	2 SubmittersRCV000793688 RCV006367328
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	CA355286053	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	CA377482089	rs_786204927	3 SubmittersRCV000801387 RCV002440676 RCV003453667
NM_003002.4(SDHD):c.119T>C (p.Ile40Thr)	SNV Germline	Chr11:112087923	Conflicting classifications of pathogenicity	Cowden syndrome 3 Pheochromocytoma Paragangliomas with sensorineural hearing loss Carney-Stratakis syndrome Hereditary cancer-predisposing syndrome Mitochondrial complex 2 deficiency, nuclear type 3 Hereditary pheochromocytoma and paraganglioma	Criteria Provided Conflicting Classifications	CA382617025	rs_1592778916	4 SubmittersRCV002535923 RCV004027515 RCV004569534 RCV004803220
NM_003002.4(SDHD):c.232G>C (p.Gly78Arg)	SNV Germline	Chr11:112088929	Conflicting classifications of pathogenicity	Pheochromocytoma Pheochromocytoma/paraganglioma syndrome 1 Cowden syndrome 3 Carney-Stratakis syndrome Hereditary cancer-predisposing syndrome Inherited phaeochromocytoma and paraganglioma excluding NF1	Criteria Provided Conflicting Classifications	CA382617278	rs_1592780479	3 SubmittersRCV000811684 RCV004028737 RCV005865396
NM_003002.4(SDHD):c.243G>A (p.Pro81=)	SNV Germline	Chr11:112088940	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Pheochromocytoma Cowden syndrome 3 Carney-Stratakis syndrome Paragangliomas with sensorineural hearing loss	Criteria Provided Conflicting Classifications	CA476790429	rs_575262156	3 SubmittersRCV000986021 RCV001015544 RCV002235584
NM_003002.4(SDHD):c.305A>G (p.His102Arg)	SNV Germline	Chr11:112089002	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Pheochromocytoma Cowden syndrome 3 Carney-Stratakis syndrome Paragangliomas with sensorineural hearing loss Pheochromocytoma/paraganglioma syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA071040	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	CA9778176	rs_143417821	4 SubmittersRCV000794676 RCV001772048 RCV004692261
NM_006363.6(SEC23B):c.2129C>T (p.Thr710Met)	SNV Germline	Chr20:18554371	Conflicting classifications of pathogenicity	Congenital dyserythropoietic anemia, type II Cowden syndrome 7 Congenital dyserythropoietic anemia, type II	Criteria Provided Conflicting Classifications	CA9778598	rs_752664090	3 SubmittersRCV000799127 RCV004789196
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	CA2711046	rs_760056670	2 SubmittersRCV000813809 RCV003437435
NM_003002.4(SDHD):c.52+2T>C	SNV Germline	Chr11:112086961	Pathogenic	Pheochromocytoma Paragangliomas with sensorineural hearing loss Cowden syndrome 3 Carney-Stratakis syndrome	Criteria Provided Single Submitter	CA382616778	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	CA377485403	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 Carney-Stratakis syndrome Pheochromocytoma Paragangliomas with sensorineural hearing loss Hereditary pheochromocytoma and paraganglioma	Criteria Provided Conflicting Classifications	CA382618845	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	CA9778397	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	CA312409086	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 Cervical cancer	Criteria Provided Conflicting Classifications	CA9778405	rs_201943863	3 SubmittersRCV001138958 RCV002545986 RCV005903222
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	CA9778415	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	CA9778577	rs_202187007	4 SubmittersRCV000946264 RCV001141560 RCV004792585
NM_000314.8(PTEN):c.612A>G (p.Pro204=)	SNV Germline	Chr10:87952237	Conflicting classifications of pathogenicity	PTEN hamartoma tumor syndrome Hereditary cancer-predisposing syndrome Condition: not provided Cowden syndrome 1	Criteria Provided Conflicting Classifications	CA060289	rs_539074063	5 SubmittersRCV000938112 RCV001024921 RCV004588374 RCV005423152
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	CA9778330	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	CA355278421	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 Congenital dyserythropoietic anemia, type II Cowden syndrome 7 Condition: not provided	Criteria Provided Conflicting Classifications	CA9778120	rs_146917730	6 SubmittersRCV001143287 RCV001516029 RCV001619877
NM_000314.8(PTEN):c.68T>G (p.Leu23Ter)	SNV Germline	Chr10:87864537	Pathogenic	Hereditary cancer-predisposing syndrome PTEN hamartoma tumor syndrome Cowden syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA377782025	rs_1589596407	3 SubmittersRCV001025787 RCV003509651 RCV005860175
NM_000314.8(PTEN):c.100G>C (p.Ala34Pro)	SNV Germline	Chr10:87894045	Pathogenic	Hereditary cancer-predisposing syndrome PTEN hamartoma tumor syndrome Cowden syndrome 1	Reviewed By Expert Panel	CA377784451	rs_1589617199	4 SubmittersRCV001016983 RCV002551798 RCV003316820
NM_000314.8(PTEN):c.255T>C (p.Val85=)	SNV Germline	Chr10:87933014	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome PTEN hamartoma tumor syndrome Cowden syndrome 1	Criteria Provided Conflicting Classifications	CA470661179	rs_1589645952	4 SubmittersRCV001015932 RCV003769481 RCV005423780
NM_000314.8(PTEN):c.302T>C (p.Ile101Thr)	SNV Germline	Chr10:87933061	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome PTEN hamartoma tumor syndrome Condition: not provided Glioma susceptibility 2 Cowden syndrome 1 Bannayan-Riley-Ruvalcaba syndrome Macrocephaly-autism syndrome PTEN hamartoma tumor syndrome Glioma susceptibility 2 Familial meningioma Cowden syndrome 1 Macrocephaly-autism syndrome Familial prostate cancer	Criteria Provided Multiple Submitters No Conflicts	CA377482139	rs_1339631701	8 SubmittersRCV001018187 RCV001055467 RCV001547112 RCV003461368 RCV003152744 RCV003987762 RCV005049731
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 Condition: not provided	Criteria Provided Conflicting Classifications	CA377482274	rs_1589646321	4 SubmittersRCV001020824 RCV001214316 RCV003455115 RCV006453517
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	CA377482284	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	CA377484279	rs_121909221	5 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	CA377484387	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 Paragangliomas with sensorineural hearing loss Pheochromocytoma Carney-Stratakis syndrome Cowden syndrome 3	Criteria Provided Conflicting Classifications	CA382617234	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	CA377481222	rs_1564828914	4 SubmittersRCV001014443 RCV001035561 RCV003455084 RCV004536049
NM_000314.8(PTEN):c.254-5C>T	SNV Germline	Chr10:87933008	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome PTEN hamartoma tumor syndrome Cowden syndrome 1	Criteria Provided Conflicting Classifications	CA915947569	rs_1589645935	3 SubmittersRCV001015873 RCV002551785 RCV005423779
NM_000314.8(PTEN):c.493-1G>C	SNV Germline	Chr10:87952117	Pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Cowden syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA377484219	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 Thymoma	Criteria Provided Multiple Submitters No Conflicts	CA377485407	rs_1257124719	4 SubmittersRCV001027078 RCV001385103 RCV003316824 RCV005912400
NM_003002.4(SDHD):c.52+1G>A	SNV Germline	Chr11:112086960	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Paragangliomas with sensorineural hearing loss Pheochromocytoma Carney-Stratakis syndrome Cowden syndrome 3 Inherited phaeochromocytoma and paraganglioma excluding NF1 Thyroid cancer, nonmedullary, 1	Criteria Provided Multiple Submitters No Conflicts	CA382616773	rs_1592777386	4 SubmittersRCV001023716 RCV001873376 RCV005865450 RCV005912393
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	CA377482318	rs_121909218	3 SubmittersRCV001061416 RCV002355068 RCV003455279
NM_000314.8(PTEN):c.394G>A (p.Gly132Ser)	SNV Germline/somatic	Chr10:87933153	Pathogenic/Likely pathogenic	PTEN hamartoma tumor syndrome Condition: not provided Macrocephaly-autism syndrome Cowden syndrome 1 Neoplasm	Criteria Provided Multiple Submitters No Conflicts	CA377482325	rs_1859977029	5 SubmittersRCV001062336 RCV001819787 RCV002274130 RCV003336301 RCV005232097
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	CA377484225	rs_786204863	2 SubmittersRCV001047166 RCV002471014
NM_003002.4(SDHD):c.91A>G (p.Ile31Val)	SNV Germline	Chr11:112087895	Conflicting classifications of pathogenicity	Carney-Stratakis syndrome Cowden syndrome 3 Pheochromocytoma Paragangliomas with sensorineural hearing loss Hereditary cancer-predisposing syndrome not specified Hereditary pheochromocytoma and paraganglioma	Criteria Provided Conflicting Classifications	CA382616974	rs_1865653068	4 SubmittersRCV002240532 RCV002374977 RCV003151276 RCV004000160
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	CA382617413	rs_786202403	2 SubmittersRCV002240202 RCV002445259
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	CA9778032	rs_140466726	4 SubmittersRCV001045553 RCV002553124 RCV003736965
NM_006363.6(SEC23B):c.1043A>G (p.Asp348Gly)	SNV Germline	Chr20:18527545	Conflicting classifications of pathogenicity	Congenital dyserythropoietic anemia, type II Cowden syndrome 7 Congenital dyserythropoietic anemia, type II	Criteria Provided Conflicting Classifications	CA408360479	rs_2060144762	2 SubmittersRCV001050924 RCV006249704
NM_003002.4(SDHD):c.53-10C>G	SNV Germline	Chr11:112087847	Conflicting classifications of pathogenicity	Carney-Stratakis syndrome Cowden syndrome 3 Pheochromocytoma Paragangliomas with sensorineural hearing loss Hereditary pheochromocytoma and paraganglioma	Criteria Provided Conflicting Classifications	CA228550972	rs_201350484	3 SubmittersRCV002240349 RCV004000090
NM_000314.8(PTEN):c.254-21G>C	SNV Germline	Chr10:87932992	Likely pathogenic	Cowden syndrome 1 PTEN hamartoma tumor syndrome	Criteria Provided Single Submitter	CA1139661578	rs_1859963198	2 SubmittersRCV001263191 RCV005367719
NM_003002.4(SDHD):c.174C>T (p.Gly58=)	SNV Germline	Chr11:112088871	Conflicting classifications of pathogenicity	Hereditary pheochromocytoma and paraganglioma Carney-Stratakis syndrome Pheochromocytoma Paragangliomas with sensorineural hearing loss Cowden syndrome 3	Criteria Provided Conflicting Classifications	CA476790236	rs_1865684964	2 SubmittersRCV001106323 RCV005225233
NM_006363.6(SEC23B):c.1413C>T (p.Thr471=)	SNV Germline	Chr20:18542304	Conflicting classifications of pathogenicity	Congenital dyserythropoietic anemia, type II Congenital dyserythropoietic anemia, type II Cowden syndrome 7	Criteria Provided Conflicting Classifications	CA312406495	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 Condition: not provided Congenital dyserythropoietic anemia, type II Cowden syndrome 7	Criteria Provided Conflicting Classifications	CA9778290	rs_187699090	3 SubmittersRCV001136711 RCV004694842 RCV003769645
NM_000314.8(PTEN):c.888T>A (p.Cys296Ter)	SNV Germline	Chr10:87960980	Pathogenic/Likely pathogenic	Cowden syndrome Cowden syndrome 1 Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA377485733	rs_1589665853	3 SubmittersRCV001174696 RCV003449567 RCV002375053
NM_000314.8(PTEN):c.1074G>A (p.Glu358=)	SNV Germline	Chr10:87965334	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome PTEN hamartoma tumor syndrome Cowden syndrome 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA470671028	rs_876659464	6 SubmittersRCV001190841 RCV001450402 RCV005428127 RCV006258429
NM_006363.6(SEC23B):c.716A>G (p.Asp239Gly)	SNV Germline	Chr20:18525814	Conflicting classifications of pathogenicity	Congenital dyserythropoietic anemia, type II Cowden syndrome 7 Congenital dyserythropoietic anemia, type II	Criteria Provided Conflicting Classifications	CA9778116	rs_761034212	3 SubmittersRCV001199101 RCV002559272
NM_000314.8(PTEN):c.509G>A (p.Ser170Asn)	SNV Germline/somatic	Chr10:87952134	Likely pathogenic	PTEN hamartoma tumor syndrome Cowden syndrome 1 Neoplasm Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA377484274	rs_876660507	4 SubmittersRCV001223749 RCV003449708 RCV005232189 RCV006258462
NM_003002.4(SDHD):c.305A>C (p.His102Pro)	SNV Germline	Chr11:112089002	Pathogenic/Likely pathogenic	Carney-Stratakis syndrome Paragangliomas with sensorineural hearing loss Pheochromocytoma Cowden syndrome 3 Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA382617414	rs_104894302	2 SubmittersRCV002241296 RCV005268977
NM_001382430.1(AKT1):c.1234G>A (p.Val412Met)	SNV Germline	Chr14:104772391	Conflicting classifications of pathogenicity	Cowden syndrome 6 Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA391216165	rs_1444891733	3 SubmittersRCV001222243 RCV002375207 RCV006266642
NM_000314.8(PTEN):c.212G>A (p.Cys71Tyr)	SNV Germline	Chr10:87931048	Pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Cowden syndrome 1 Familial prostate cancer Macrocephaly-autism syndrome Familial meningioma Glioma susceptibility 2 Cowden syndrome 1 PTEN hamartoma tumor syndrome	Reviewed By Expert Panel	CA377481238	rs_1554897856	7 SubmittersRCV001812250 RCV005712377 RCV003449650 RCV004796372 RCV001205381
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	CA377784608	rs_1554893835	3 SubmittersRCV001201578 RCV002402569 RCV003449641
NM_003002.4(SDHD):c.139C>T (p.Gln47Ter)	SNV Germline	Chr11:112087943	Pathogenic	Condition: not provided Carney-Stratakis syndrome Paragangliomas with sensorineural hearing loss Pheochromocytoma Cowden syndrome 3	Criteria Provided Multiple Submitters No Conflicts	CA382617069	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 Paragangliomas with sensorineural hearing loss Cowden syndrome 3 Pheochromocytoma Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA382617018	rs_199901239	2 SubmittersRCV002241639 RCV002451612
NM_003002.4(SDHD):c.231G>A (p.Leu77=)	SNV Germline	Chr11:112088928	Conflicting classifications of pathogenicity	Carney-Stratakis syndrome Pheochromocytoma Paragangliomas with sensorineural hearing loss Cowden syndrome 3 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA476790401	rs_1187106228	2 SubmittersRCV002241794 RCV006287376
NM_006363.6(SEC23B):c.2008C>T (p.Arg670Cys)	SNV Germline	Chr20:18554250	Conflicting classifications of pathogenicity	Congenital dyserythropoietic anemia, type II Cowden syndrome 7 Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA9778573	rs_752037101	3 SubmittersRCV001241508 RCV004034681 RCV006279493
NM_003002.4(SDHD):c.169+5G>C	SNV Germline	Chr11:112087978	Likely pathogenic	Carney-Stratakis syndrome Paragangliomas with sensorineural hearing loss Pheochromocytoma Cowden syndrome 3	Criteria Provided Single Submitter	CA1139662327	rs_1865657237	1 SubmittersRCV002241352
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 Condition: not provided Neoplasm	Criteria Provided Multiple Submitters No Conflicts	CA377482069	rs_1859965098	5 SubmittersRCV001255368 RCV001253477 RCV003509660 RCV006453611 RCV004671304
NM_000314.8(PTEN):c.103A>C (p.Met35Leu)	SNV Germline	Chr10:87894048	Likely pathogenic	Cowden syndrome 1	Criteria Provided Single Submitter	CA377784459	rs_876659443	1 SubmittersRCV001254105
NM_000314.8(PTEN):c.37A>G (p.Lys13Glu)	SNV Germline/somatic	Chr10:87864506	Pathogenic/Likely pathogenic	Cowden syndrome PTEN hamartoma tumor syndrome Hereditary cancer-predisposing syndrome Condition: not provided Neoplasm	Criteria Provided Multiple Submitters No Conflicts	CA377781904	rs_1554890348	5 SubmittersRCV001269396 RCV002465860 RCV005262348 RCV005623409 RCV006274174
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	CA377484338	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	CA377485512	rs_1860618095	2 SubmittersRCV001269399 RCV003619741
NM_000314.8(PTEN):c.582G>A (p.Leu194=)	SNV Germline	Chr10:87952207	Conflicting classifications of pathogenicity	Condition: not provided Cowden syndrome 1 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA470667707	rs_1860422594	3 SubmittersRCV001284057 RCV005428160 RCV006424754
NM_000314.8(PTEN):c.825A>G (p.Val275=)	SNV Unknown	Chr10:87960917	Conflicting classifications of pathogenicity	Condition: not provided Cowden syndrome 1	Criteria Provided Conflicting Classifications	CA470973912	rs_1860617849	2 SubmittersRCV001284221 RCV005423957
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	CA2710984	rs_780492649	5 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	CA267348837	rs_889505130	2 SubmittersRCV001295011 RCV003166637
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	CA377482087	rs_779530981	2 SubmittersRCV001347115 RCV003449974
NM_000314.8(PTEN):c.959T>C (p.Leu320Ser)	SNV Germline	Chr10:87961051	Likely pathogenic	PTEN hamartoma tumor syndrome Condition: not provided Hereditary cancer-predisposing syndrome Cowden syndrome 1	Reviewed By Expert Panel	CA377485996	rs_1114167667	6 SubmittersRCV001347116 RCV001586139 RCV002377474 RCV003449975
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	CA9778005	rs_372784283	3 SubmittersRCV001351710 RCV004692620
NM_006218.4(PIK3CA):c.2908G>A (p.Glu970Lys)	SNV Germline/somatic	Chr3:179230348	Pathogenic/Likely pathogenic	Cowden syndrome Condition: not provided Neoplasm	Criteria Provided Multiple Submitters No Conflicts	CA355282001	rs_2108425281	3 SubmittersRCV001366657 RCV002255184 RCV006274210
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 PTEN hamartoma tumor syndrome Cowden syndrome	Criteria Provided Conflicting Classifications	CA377484996	rs_1554825226	3 SubmittersRCV001374613 RCV001762656 RCV003223419
NM_000314.8(PTEN):c.376G>C (p.Ala126Pro)	SNV Germline	Chr10:87933135	Pathogenic	PTEN hamartoma tumor syndrome Cowden syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA377482298	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	CA377484221	rs_587782603	4 SubmittersRCV001378791 RCV003450047 RCV004779114
NM_003002.4(SDHD):c.53-1G>T	SNV Germline	Chr11:112087856	Likely pathogenic	Pheochromocytoma Cowden syndrome 3 Carney-Stratakis syndrome Paragangliomas with sensorineural hearing loss	Criteria Provided Single Submitter	CA382616904	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	CA377785017	rs_1564826779	2 SubmittersRCV001381909 RCV003992512
NM_000314.8(PTEN):c.250A>T (p.Arg84Ter)	SNV Germline	Chr10:87931086	Pathogenic	PTEN hamartoma tumor syndrome Cowden syndrome 1 Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA377481406	rs_1554897880	3 SubmittersRCV001389652 RCV003451686 RCV004037705
NM_003002.4(SDHD):c.405C>T (p.Thr135=)	SNV Germline	Chr11:112094895	Conflicting classifications of pathogenicity	Paragangliomas with sensorineural hearing loss Cowden syndrome 3 Carney-Stratakis syndrome Pheochromocytoma Hereditary pheochromocytoma and paraganglioma Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA476790956	rs_1555187606	4 SubmittersRCV002236314 RCV004804170 RCV005722455 RCV004590438
NM_000314.8(PTEN):c.253+7A>G	SNV Germline	Chr10:87931096	Conflicting classifications of pathogenicity	PTEN hamartoma tumor syndrome Breast and/or ovarian cancer Cowden syndrome 1	Criteria Provided Conflicting Classifications	CA2499220455	rs_2132239067	3 SubmittersRCV001469121 RCV003150435 RCV005428339
NM_001382430.1(AKT1):c.288-4G>T	SNV Germline	Chr14:104775803	Conflicting classifications of pathogenicity	Cowden syndrome 6	Criteria Provided Conflicting Classifications	CA7374821	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	CA9778649	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 Hereditary cancer-predisposing syndrome Cowden syndrome 1	Criteria Provided Conflicting Classifications	CA377784371	rs_1355570425	5 SubmittersRCV001553520 RCV003771693 RCV004945693 RCV004762159
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	CA377482303	rs_587781255	2 SubmittersRCV001558159 RCV003451811
NM_000314.8(PTEN):c.492+1G>A	SNV Germline	Chr10:87933252	Pathogenic/Likely pathogenic	Condition: not provided PTEN hamartoma tumor syndrome Hereditary cancer-predisposing syndrome Cowden syndrome Cowden syndrome 1 Uterine corpus endometrial carcinoma	Criteria Provided Multiple Submitters No Conflicts	CA377482838	rs_1554898242	8 SubmittersRCV001585039 RCV001882705 RCV002343756 RCV002241380 RCV003451820 RCV005919142
NM_000314.8(PTEN):c.424C>A (p.Arg142=)	SNV Germline	Chr10:87933183	Conflicting classifications of pathogenicity	Condition: not provided PTEN hamartoma tumor syndrome Cowden syndrome 1	Criteria Provided Conflicting Classifications	CA470661901	rs_746152219	3 SubmittersRCV001581816 RCV003619746 RCV005428412
NM_000314.8(PTEN):c.956C>T (p.Thr319Ile)	SNV Germline	Chr10:87961048	Conflicting classifications of pathogenicity	Condition: not provided PTEN hamartoma tumor syndrome Hereditary cancer-predisposing syndrome Cowden syndrome 1	Criteria Provided Conflicting Classifications	CA060840	rs_761350690	5 SubmittersRCV001758959 RCV002540657 RCV004785309 RCV005860253
NM_003002.4(SDHD):c.49C>T (p.Arg17Ter)	SNV Germline	Chr11:112086956	Pathogenic	Hereditary cancer-predisposing syndrome Pheochromocytoma Paragangliomas with sensorineural hearing loss Carney-Stratakis syndrome Cowden syndrome 3 Condition: not provided Pheochromocytoma/paraganglioma syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA382616759	rs_1314133983	6 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	CA9778333	rs_780978419	7 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 Pheochromocytoma Paragangliomas with sensorineural hearing loss Carney-Stratakis syndrome	Criteria Provided Conflicting Classifications	CA476789562	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	CA312389352	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	CA377484220	rs_786204862	3 SubmittersRCV001808854 RCV002334703 RCV003451954
NM_000314.8(PTEN):c.106G>A (p.Gly36Arg)	SNV Germline/somatic	Chr10:87894051	Likely pathogenic	Macrocephaly-autism syndrome Cowden syndrome 1 PTEN hamartoma tumor syndrome Hereditary cancer-predisposing syndrome Cowden syndrome 1 Neoplasm	Reviewed By Expert Panel	CA377784475	rs_786204854	6 SubmittersRCV001814732 RCV001885301 RCV002406896 RCV003316850 RCV005232670
NM_000314.8(PTEN):c.373A>G (p.Lys125Glu)	SNV Germline	Chr10:87933132	Pathogenic	Condition: not provided PTEN hamartoma tumor syndrome Cowden syndrome 1 Hereditary cancer-predisposing syndrome PTEN-related disorder	Reviewed By Expert Panel	CA377482291	rs_1554898127	6 SubmittersRCV001817633 RCV002542697 RCV003451963 RCV004040997 RCV006269484
NM_006363.6(SEC23B):c.1603C>T (p.Arg535Ter)	SNV Germline	Chr20:18543110	Pathogenic	Congenital dyserythropoietic anemia, type II Cowden syndrome 7 Congenital dyserythropoietic anemia, type II	Criteria Provided Multiple Submitters No Conflicts	CA9778417	rs_201921350	3 SubmittersRCV001894286 RCV005409040
NM_006218.4(PIK3CA):c.3145G>T (p.Gly1049Cys)	SNV Germline/somatic	Chr3:179234302	Likely pathogenic	Cowden syndrome Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype	Criteria Provided Single Submitter	CA355285853	rs_121913277	2 SubmittersRCV002043221 RCV006254319
NM_003002.4(SDHD):c.70C>T (p.Pro24Ser)	SNV Germline	Chr11:112087874	Conflicting classifications of pathogenicity	Pheochromocytoma Paragangliomas with sensorineural hearing loss Cowden syndrome 3 Carney-Stratakis syndrome Hereditary cancer-predisposing syndrome Hereditary pheochromocytoma and paraganglioma	Criteria Provided Conflicting Classifications	CA382616935	rs_775986509	3 SubmittersRCV002005249 RCV002361328 RCV006550790
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	CA377482108	rs_1554898074	3 SubmittersRCV001953843 RCV003453874
NM_000314.8(PTEN):c.165-9T>A	SNV Germline	Chr10:87925504	Likely pathogenic	PTEN hamartoma tumor syndrome Cowden syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA645553738	rs_878853934	2 SubmittersRCV001898373 RCV005401868
NM_000314.8(PTEN):c.43A>T (p.Arg15Ter)	SNV Germline	Chr10:87864512	Pathogenic	PTEN hamartoma tumor syndrome Cowden syndrome 1 Hereditary cancer-predisposing syndrome Cervical cancer	Criteria Provided Multiple Submitters No Conflicts	CA377781929	rs_2132145750	4 SubmittersRCV001919652 RCV003452174 RCV005465611 RCV005924173
NM_003002.4(SDHD):c.169+1G>T	SNV Germline	Chr11:112087974	Pathogenic	Carney-Stratakis syndrome Paragangliomas with sensorineural hearing loss Pheochromocytoma Cowden syndrome 3	Criteria Provided Single Submitter	CA382617140	rs_2135267557	1 SubmittersRCV001994720
NM_003002.4(SDHD):c.413G>A (p.Gly138Glu)	SNV Germline	Chr11:112094903	Conflicting classifications of pathogenicity	Cowden syndrome 3 Pheochromocytoma Carney-Stratakis syndrome Paragangliomas with sensorineural hearing loss Hereditary cancer-predisposing syndrome Hereditary pheochromocytoma and paraganglioma	Criteria Provided Conflicting Classifications	CA382619287	rs_1401695686	3 SubmittersRCV001990958 RCV003348710 RCV006550800
NM_003002.4(SDHD):c.317G>A (p.Gly106Asp)	SNV Germline	Chr11:112094807	Pathogenic/Likely pathogenic	Pheochromocytoma Paragangliomas with sensorineural hearing loss Carney-Stratakis syndrome Cowden syndrome 3 Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA382618729	rs_1555187574	2 SubmittersRCV001913139 RCV002324301
NM_000314.8(PTEN):c.71A>T (p.Asp24Val)	SNV Germline	Chr10:87864540	Pathogenic/Likely pathogenic	PTEN hamartoma tumor syndrome Cowden syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA377782034	rs_797044910	3 SubmittersRCV002043319 RCV004046709
NM_003002.4(SDHD):c.169+1G>A	SNV Germline	Chr11:112087974	Pathogenic	Cowden syndrome 3 Pheochromocytoma Carney-Stratakis syndrome Paragangliomas with sensorineural hearing loss	Criteria Provided Single Submitter	CA382617138	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	CA9778590	rs_201270568	6 SubmittersRCV002020875 RCV002222748 RCV003130680
NM_000314.8(PTEN):c.143A>G (p.Asn48Ser)	SNV Germline	Chr10:87894088	Pathogenic	PTEN hamartoma tumor syndrome Cowden syndrome 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA377784563	rs_1859098783	3 SubmittersRCV001914799 RCV003234131 RCV005645318
NM_003002.4(SDHD):c.315-2A>G	SNV Germline	Chr11:112094803	Likely pathogenic	Carney-Stratakis syndrome Pheochromocytoma Paragangliomas with sensorineural hearing loss Cowden syndrome 3	Criteria Provided Single Submitter	CA382618705	rs_2135277333	1 SubmittersRCV001998098
NM_003002.4(SDHD):c.450C>T (p.Cys150=)	SNV Germline	Chr11:112094940	Conflicting classifications of pathogenicity	Cowden syndrome 3 Carney-Stratakis syndrome Pheochromocytoma Paragangliomas with sensorineural hearing loss Hereditary cancer-predisposing syndrome Pheochromocytoma/paraganglioma syndrome 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA071425	rs_201337439	4 SubmittersRCV002140034 RCV002337361 RCV005424801 RCV004763335
NM_000314.8(PTEN):c.102T>A (p.Ala34=)	SNV Germline	Chr10:87894047	Conflicting classifications of pathogenicity	PTEN hamartoma tumor syndrome Hereditary cancer-predisposing syndrome Cowden syndrome 1	Criteria Provided Conflicting Classifications	CA470879009	rs_1472278114	3 SubmittersRCV002172615 RCV005465708 RCV005421101
NM_003002.4(SDHD):c.170-20G>T	SNV Germline	Chr11:112088847	Conflicting classifications of pathogenicity	Paragangliomas with sensorineural hearing loss Cowden syndrome 3 Carney-Stratakis syndrome Pheochromocytoma Hereditary cancer-predisposing syndrome Pheochromocytoma/paraganglioma syndrome 1	Criteria Provided Conflicting Classifications	CA2573146856	rs_2135269091	3 SubmittersRCV002082844 RCV004017892 RCV005421089
NM_000314.8(PTEN):c.2T>C (p.Met1Thr)	SNV Germline	Chr10:87864471	Pathogenic	Cowden syndrome 1	Criteria Provided Single Submitter	CA377781758	rs_1858394001	1 SubmittersRCV002250273
NM_000314.8(PTEN):c.499A>G (p.Thr167Ala)	SNV Germline	Chr10:87952124	Conflicting classifications of pathogenicity	Cowden syndrome 1 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA377484240	rs_1210737543	2 SubmittersRCV002250274 RCV005403197
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	CA9778023	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	CA267348062	rs_113777945	2 SubmittersRCV002246925 RCV003101349
NM_003002.4(SDHD):c.242C>G (p.Pro81Arg)	SNV Germline	Chr11:112088939	Conflicting classifications of pathogenicity	Paraganglioma Paragangliomas with sensorineural hearing loss Carney-Stratakis syndrome Cowden syndrome 3 Pheochromocytoma	Criteria Provided Conflicting Classifications	CA382617298	rs_80338844	2 SubmittersRCV002251308 RCV003774738
NM_006218.4(PIK3CA):c.3061T>C (p.Tyr1021His)	SNV Germline/somatic	Chr3:179234218	Pathogenic/Likely pathogenic	PIK3CA related overgrowth syndrome Cowden syndrome	Criteria Provided Multiple Submitters No Conflicts	CA355285420	rs_2108429509	5 SubmittersRCV003157111 RCV005095870
NM_000314.8(PTEN):c.709A>T (p.Lys237Ter)	SNV Germline	Chr10:87957927	Pathogenic	Hereditary cancer-predisposing syndrome Cowden syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA377484899	rs_2132277045	2 SubmittersRCV002257172 RCV006633999
NM_000314.8(PTEN):c.-72C>T	SNV Germline	Chr10:87864398	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Cowden syndrome 1	Criteria Provided Conflicting Classifications	CA669541792	rs_1329461088	2 SubmittersRCV002257290 RCV005254043
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 Congenital dyserythropoietic anemia, type II Cowden syndrome 7	Criteria Provided Conflicting Classifications	CA312389151	rs_905074313	8 SubmittersRCV002276098 RCV003101567 RCV004785559 RCV006554651
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	CA88556623	rs_200018596	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	CA377482383	rs_863224666	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	CA377481310	rs_1554897866	2 SubmittersRCV002306033 RCV003454095
NM_000314.8(PTEN):c.372T>G (p.Cys124Trp)	SNV Germline	Chr10:87933131	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Prostate cancer, hereditary, 1 Cowden syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA377482288	rs_1554898126	3 SubmittersRCV002353055 RCV003483887 RCV003454133
NM_000314.8(PTEN):c.407G>T (p.Cys136Phe)	SNV Germline	Chr10:87933166	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Cowden syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA377482350	rs_786204859	2 SubmittersRCV002323108 RCV005421258
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	CA2710582	rs_778573303	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	CA377484835	rs_1057520900	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	CA7374436	rs_748603087	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 PTEN hamartoma tumor syndrome	Criteria Provided Multiple Submitters No Conflicts	CA377486135	rs_786201816	3 SubmittersRCV002457764 RCV003455465 RCV005098100
NM_003002.4(SDHD):c.10C>G (p.Leu4Val)	SNV Germline	Chr11:112086917	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Pheochromocytoma Cowden syndrome 3 Carney-Stratakis syndrome Paragangliomas with sensorineural hearing loss	Criteria Provided Conflicting Classifications	CA382616632	rs_1032016970	2 SubmittersRCV002430843 RCV005227760
NM_000314.8(PTEN):c.210-12C>G	SNV Germline	Chr10:87931034	Likely pathogenic	Hereditary cancer-predisposing syndrome PTEN hamartoma tumor syndrome Macrocephaly-autism syndrome Familial meningioma Cowden syndrome 1 Familial prostate cancer Glioma susceptibility 2	Criteria Provided Multiple Submitters No Conflicts	CA2580082218	rs_766570103	3 SubmittersRCV002424228 RCV004007396 RCV005042830
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	CA9778086	rs_201418257	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	CA547862539	rs_1170069201	2 SubmittersRCV003050868 RCV003134599
NM_000314.8(PTEN):c.540C>A (p.Tyr180Ter)	SNV Germline	Chr10:87952165	Pathogenic	PTEN hamartoma tumor syndrome Cowden syndrome 1 Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA377484380	rs_786202733	3 SubmittersRCV003037350 RCV003455671 RCV005714900
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	CA377485603	rs_1564568265	2 SubmittersRCV003058261 RCV003455672
NM_006363.6(SEC23B):c.1580T>C (p.Leu527Ser)	SNV Germline	Chr20:18543087	Conflicting classifications of pathogenicity	Congenital dyserythropoietic anemia, type II Cowden syndrome 7 Condition: not provided	Criteria Provided Conflicting Classifications	CA408364086	rs_2060303450	2 SubmittersRCV003074821 RCV006274391
NM_003002.4(SDHD):c.15G>A (p.Trp5Ter)	SNV Germline	Chr11:112086922	Pathogenic	Pheochromocytoma Cowden syndrome 3 Paragangliomas with sensorineural hearing loss Carney-Stratakis syndrome Hereditary pheochromocytoma and paraganglioma	Criteria Provided Multiple Submitters No Conflicts	CA382616649	rs_2135264652	2 SubmittersRCV002601701 RCV005058919
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	CA408357335	rs_2517457847	1 SubmittersRCV002862093
NM_003002.4(SDHD):c.315-2A>T	SNV Germline	Chr11:112094803	Pathogenic/Likely pathogenic	Cowden syndrome 3 Carney-Stratakis syndrome Paragangliomas with sensorineural hearing loss Pheochromocytoma Mitochondrial complex 2 deficiency, nuclear type 3	Criteria Provided Multiple Submitters No Conflicts	CA382618706	rs_2135277333	2 SubmittersRCV002863222 RCV003475442
NM_006363.6(SEC23B):c.1753C>T (p.His585Tyr)	SNV Germline	Chr20:18548618	Conflicting classifications of pathogenicity	Congenital dyserythropoietic anemia, type II Cowden syndrome 7 Condition: not provided	Criteria Provided Conflicting Classifications	CA9778491	rs_150733820	2 SubmittersRCV002885658 RCV005636627
NM_003002.4(SDHD):c.53-7T>C	SNV Germline	Chr11:112087850	Conflicting classifications of pathogenicity	Pheochromocytoma Cowden syndrome 3 Carney-Stratakis syndrome Paragangliomas with sensorineural hearing loss Condition: not provided	Criteria Provided Conflicting Classifications	CA671745566	rs_1370020365	2 SubmittersRCV002933644 RCV004999836
NM_003002.4(SDHD):c.264C>A (p.Cys88Ter)	SNV Germline	Chr11:112088961	Pathogenic	Paragangliomas with sensorineural hearing loss Carney-Stratakis syndrome Pheochromocytoma Cowden syndrome 3 Pheochromocytoma/paraganglioma syndrome 1	Criteria Provided Single Submitter	CA382617339	rs_761615413	2 SubmittersRCV002994598 RCV005863775
NM_003002.4(SDHD):c.381G>T (p.Gly127=)	SNV Germline	Chr11:112094871	Conflicting classifications of pathogenicity	Paragangliomas with sensorineural hearing loss Carney-Stratakis syndrome Pheochromocytoma Cowden syndrome 3 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA382619102	rs_2498917467	3 SubmittersRCV003008997 RCV003170827 RCV004999848
NM_003002.4(SDHD):c.53-2A>C	SNV Germline	Chr11:112087855	Likely pathogenic	Pheochromocytoma Cowden syndrome 3 Carney-Stratakis syndrome Paragangliomas with sensorineural hearing loss Clear cell carcinoma of kidney	Criteria Provided Single Submitter	CA071490	rs_778969755	2 SubmittersRCV003005720 RCV005926755
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	CA377484860	rs_1554825186	3 SubmittersRCV003052340 RCV003455670
NM_003002.4(SDHD):c.198G>A (p.Trp66Ter)	SNV Germline	Chr11:112088895	Pathogenic	Paragangliomas with sensorineural hearing loss Carney-Stratakis syndrome Cowden syndrome 3 Pheochromocytoma Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA382617209	rs_2135269244	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 Melanoma	Criteria Provided Conflicting Classifications	CA9777948	rs_200152499	5 SubmittersRCV003136547 RCV003778787 RCV005927070
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	CA377482285	rs_876660535	3 SubmittersRCV003165129 RCV003455770 RCV003459790
NM_000314.8(PTEN):c.332G>A (p.Trp111Ter)	SNV Germline/somatic	Chr10:87933091	Pathogenic	Hereditary cancer-predisposing syndrome Endometrial carcinoma Endometrial hyperplasia without atypia Atypical endometrial hyperplasia Cowden syndrome 1 PTEN hamartoma tumor syndrome Neoplasm	Criteria Provided Multiple Submitters No Conflicts	CA377482205	rs_2132242679	6 SubmittersRCV003165130 RCV003328128 RCV003455771 RCV003330114 RCV006274411
NM_003002.4(SDHD):c.125A>G (p.Glu42Gly)	SNV Germline	Chr11:112087929	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Carney-Stratakis syndrome Paragangliomas with sensorineural hearing loss Cowden syndrome 3 Pheochromocytoma	Criteria Provided Conflicting Classifications	CA382617036	rs_2498900089	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	CA377484807	rs_1554825174	2 SubmittersRCV003319146 RCV004763647
NM_000314.8(PTEN):c.254-20A>G	SNV Germline	Chr10:87932993	Conflicting classifications of pathogenicity	Cowden syndrome 1	Criteria Provided Conflicting Classifications	CA2565916441	rs_1045014545	2 SubmittersRCV003325277
NM_000314.8(PTEN):c.313T>C (p.Cys105Arg)	SNV Germline	Chr10:87933072	Likely pathogenic	Macrocephaly-autism syndrome Cowden syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA377482162	rs_1303165645	2 SubmittersRCV003397226 RCV006634026
NM_000314.8(PTEN):c.655C>T (p.Gln219Ter)	SNV Germline/somatic	Chr10:87957873	Pathogenic	Cowden syndrome 1 PTEN hamartoma tumor syndrome PTEN-related disorder Neoplasm	Criteria Provided Multiple Submitters No Conflicts	CA377484795	rs_1554825168	4 SubmittersRCV003455815 RCV003509818 RCV004531535 RCV004673881
NM_003002.4(SDHD):c.197G>A (p.Trp66Ter)	SNV Germline	Chr11:112088894	Pathogenic	Condition: not provided Pheochromocytoma Cowden syndrome 3 Paragangliomas with sensorineural hearing loss Carney-Stratakis syndrome	Criteria Provided Multiple Submitters No Conflicts	CA382617205	rs_2498904623	2 SubmittersRCV003443521 RCV005220713
NM_000314.8(PTEN):c.1026+2T>C	SNV Unknown	Chr10:87961120	Likely pathogenic	Cowden syndrome 1	Criteria Provided Single Submitter	CA377486190	rs_1114167624	1 SubmittersRCV003450510
NM_000314.8(PTEN):c.1026+2T>A	SNV Unknown	Chr10:87961120	Likely pathogenic	Cowden syndrome 1	Criteria Provided Single Submitter	CA377486188	rs_1114167624	1 SubmittersRCV003450518
NM_000314.8(PTEN):c.1027-1G>T	SNV Germline	Chr10:87965286	Likely pathogenic	Cowden syndrome 1 Hereditary cancer-predisposing syndrome Uterine corpus endometrial carcinoma Cervical cancer	Criteria Provided Multiple Submitters No Conflicts	CA377487090	rs_1057517809	3 SubmittersRCV003450531 RCV005705171 RCV005927707 RCV005927706
NM_000314.8(PTEN):c.871G>T (p.Glu291Ter)	SNV Unknown	Chr10:87960963	Pathogenic	Cowden syndrome 1	Criteria Provided Single Submitter	CA377485670	rs_2132282249	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	CA377485405	rs_1257124719	2 SubmittersRCV003450537 RCV003619847
NM_000314.8(PTEN):c.1024A>T (p.Lys342Ter)	SNV Unknown	Chr10:87961116	Pathogenic	Cowden syndrome 1	Criteria Provided Single Submitter	CA377486174	rs_1554825655	1 SubmittersRCV003450543
NM_000314.8(PTEN):c.2T>G (p.Met1Arg)	SNV Germline	Chr10:87864471	Pathogenic/Likely pathogenic	Cowden syndrome 1 Hereditary cancer-predisposing syndrome Syndromic microphthalmia	Criteria Provided Multiple Submitters No Conflicts	CA377781760	rs_1858394001	3 SubmittersRCV003452475 RCV006425066 RCV006605400
NM_000314.8(PTEN):c.377C>A (p.Ala126Asp)	SNV Unknown	Chr10:87933136	Likely pathogenic	Cowden syndrome 1	Criteria Provided Single Submitter	CA377482300	rs_1114167656	1 SubmittersRCV003452476
NM_000314.8(PTEN):c.379G>C (p.Gly127Arg)	SNV Unknown	Chr10:87933138	Likely pathogenic	Cowden syndrome 1	Criteria Provided Single Submitter	CA377482304	rs_587781255	1 SubmittersRCV003452479
NM_000314.8(PTEN):c.362C>A (p.Ala121Glu)	SNV Unknown	Chr10:87933121	Likely pathogenic	Cowden syndrome 1	Criteria Provided Single Submitter	CA377482270	rs_121909237	1 SubmittersRCV003452480
NM_000314.8(PTEN):c.335T>G (p.Leu112Arg)	SNV Germline	Chr10:87933094	Pathogenic	Cowden syndrome 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA377482214	rs_121909230	2 SubmittersRCV003452499 RCV005414697
NM_000314.8(PTEN):c.264T>G (p.Tyr88Ter)	SNV Germline	Chr10:87933023	Pathogenic	Cowden syndrome 1 Hereditary cancer-predisposing syndrome PTEN hamartoma tumor syndrome	Criteria Provided Multiple Submitters No Conflicts	CA377482059	rs_1554898056	3 SubmittersRCV003452504 RCV005264417 RCV006561671
NM_000314.8(PTEN):c.271G>T (p.Glu91Ter)	SNV Unknown	Chr10:87933030	Pathogenic	Cowden syndrome 1	Criteria Provided Single Submitter	CA377482075	rs_1554898062	1 SubmittersRCV003452508
NM_000314.8(PTEN):c.164+2T>A	SNV Unknown	Chr10:87894111	Pathogenic	Cowden syndrome 1	Criteria Provided Single Submitter	CA377784610	rs_1337554479	1 SubmittersRCV003452512
NM_000314.8(PTEN):c.31A>T (p.Arg11Ter)	SNV Unknown	Chr10:87864500	Pathogenic	Cowden syndrome 1	Criteria Provided Single Submitter	CA377781878	rs_1858395868	1 SubmittersRCV003452518
NM_000314.8(PTEN):c.340G>T (p.Glu114Ter)	SNV Somatic	Chr10:87933099	Pathogenic	Cowden syndrome 1 Neoplasm	Criteria Provided Single Submitter	CA377482222	rs_2132242751	2 SubmittersRCV003452532 RCV005230511
NM_000314.8(PTEN):c.724G>T (p.Glu242Ter)	SNV Unknown	Chr10:87957942	Pathogenic	Cowden syndrome 1	Criteria Provided Single Submitter	CA377484939	rs_1554825210	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	CA377482833	rs_1554898237	2 SubmittersRCV003452543 RCV004943047
NM_000314.8(PTEN):c.686C>A (p.Ser229Ter)	SNV Unknown	Chr10:87957904	Pathogenic	Cowden syndrome 1	Criteria Provided Single Submitter	CA377484856	rs_1214965807	1 SubmittersRCV003452557
NM_000314.8(PTEN):c.419T>A (p.Leu140Ter)	SNV Unknown	Chr10:87933178	Pathogenic	Cowden syndrome 1	Criteria Provided Single Submitter	CA377482375	rs_2132243523	1 SubmittersRCV003452564
NM_000314.8(PTEN):c.121A>T (p.Arg41Ter)	SNV Unknown	Chr10:87894066	Pathogenic	Cowden syndrome 1	Criteria Provided Single Submitter	CA377784516	rs_1554893804	1 SubmittersRCV003452568
NM_000314.8(PTEN):c.720C>A (p.Tyr240Ter)	SNV Unknown	Chr10:87957938	Pathogenic	Cowden syndrome 1	Criteria Provided Single Submitter	CA377484929	rs_190070312	1 SubmittersRCV003452570

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

21 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

16 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
Congenital dyserythropoietic anemia, type II
Cowden syndrome 7

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

5 SubmittersRCV000001284 RCV001092534 RCV001384733

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

SNV
Germline

Chr20:18526508

Pathogenic/Likely 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

6 SubmittersRCV000001285 RCV002512638 RCV003137483

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

SNV
Germline

Chr20:18524980

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

Pheochromocytoma/paraganglioma syndrome 1
Hereditary cancer-predisposing syndrome
Carney-Stratakis syndrome
Paragangliomas with sensorineural hearing loss
Pheochromocytoma
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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA016789

rs_80338843

14 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
Pheochromocytoma/paraganglioma syndrome 1
Pheochromocytoma
Condition: not provided
not specified
Hereditary cancer-predisposing syndrome
Carney-Stratakis syndrome
Mitochondrial complex 2 deficiency, nuclear type 3
Carney-Stratakis syndrome
Paragangliomas with sensorineural hearing loss
Pheochromocytoma
Cowden syndrome 3
Mitochondrial complex 2 deficiency, nuclear type 3
Pheochromocytoma/paraganglioma syndrome 1
Carney-Stratakis syndrome
Hereditary pheochromocytoma and paraganglioma

Criteria Provided
Conflicting Classifications

CA016980

rs_34677591

29 SubmittersRCV000007299 RCV000007300 RCV000007302 RCV000034697 RCV000122006 RCV000162470 RCV000988742 RCV001807000 RCV002228001 RCV005394131 RCV005401281

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

SNV
Germline/somatic

Chr11:112088939

Pathogenic/Likely pathogenic

Pheochromocytoma
Pheochromocytoma/paraganglioma syndrome 1
Hereditary pheochromocytoma and paraganglioma
Hereditary cancer-predisposing syndrome
Condition: not provided
Pheochromocytoma/paraganglioma syndrome 1
Carney-Stratakis syndrome
Pheochromocytoma
Mitochondrial complex II deficiency, nuclear type 1
Mitochondrial complex II deficiency, nuclear type 1
Carney-Stratakis syndrome
Paragangliomas with sensorineural hearing loss
Pheochromocytoma
Cowden syndrome 3
Mitochondrial complex 2 deficiency, nuclear type 3
SDHD-related disorder
Inherited phaeochromocytoma and paraganglioma excluding NF1
Mitochondrial complex 2 deficiency, nuclear type 3
Pheochromocytoma/paraganglioma syndrome 1
Carney-Stratakis syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA016688

rs_80338844

27 SubmittersRCV000007304 RCV000007303 RCV000020519 RCV000162448 RCV000216073 RCV000763227 RCV002221470 RCV002228002 RCV003472995 RCV004748507 RCV005865159 RCV005394132

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

SNV
Germline

Chr11:112088971

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA016702

rs_80338845

9 SubmittersRCV000007305 RCV000020520 RCV000567104 RCV001701480 RCV002288471 RCV002512869

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

SNV
Germline

Chr11:112089002

Pathogenic

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

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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA016797

rs_104894304

13 SubmittersRCV000007309 RCV000155750 RCV000221353 RCV002228004 RCV001810833

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

SNV
Germline

Chr11:112087899

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA016746

rs_104894305

7 SubmittersRCV000007310 RCV000505384 RCV002381243 RCV002228005 RCV004791197

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

SNV
Germline

Chr11:112087868

Pathogenic

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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA016987

rs_80338842

7 SubmittersRCV000007315 RCV000020522 RCV000492533 RCV002228007 RCV005414445

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

SNV
Germline

Chr11:112086908

Pathogenic

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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA016785

rs_104894308

6 SubmittersRCV000007322 RCV000222413 RCV000756632 RCV002512871

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

SNV
Germline

Chr11:112086940

Pathogenic

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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA016834

rs_104894310

5 SubmittersRCV001851719 RCV004018584 RCV004018583 RCV006263621

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

SNV
Germline/somatic

Chr10:87933145

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA000431

rs_121909218

8 SubmittersRCV000008255 RCV000490577 RCV000413815 RCV001021326 RCV003332076 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
Neoplasm

Criteria Provided
Multiple Submitters
No Conflicts

CA000549

rs_121909219

34 SubmittersRCV000008256 RCV000128455 RCV000162649 RCV000212882 RCV000477737 RCV000678740 RCV000785383 RCV001327980 RCV003162216 RCV003466836 RCV004532309 RCV006273048

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/somatic

Chr10:87933127

Pathogenic

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

Reviewed By Expert Panel

CA000418

rs_121909222

7 SubmittersRCV000008260 RCV000518927 RCV000735264 RCV004528091 RCV005229770

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
Glioma susceptibility 2
Prostate cancer
Familial meningioma
Macrocephaly-autism syndrome
Cowden syndrome 1
Gastric cancer
Macrocephaly-autism syndrome
Cowden syndrome 1
Neoplasm
PTEN-related disorder
Glioma susceptibility 2
Familial meningioma
Macrocephaly-autism syndrome
Cowden syndrome 1
Familial prostate cancer
Colorectal cancer
Cowden syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA000433

rs_121909224

53 SubmittersRCV000008265 RCV000008263 RCV000078615 RCV000199099 RCV000132187 RCV000424529 RCV001257555 RCV001327978 RCV001542771 RCV002476944 RCV003162218 RCV003326115 RCV004668708 RCV004532310 RCV005394140 RCV006250156 RCV005409596

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

SNV
Germline/somatic

Chr10:87931090

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA000362

rs_587776667

9 SubmittersRCV000008266 RCV000516042 RCV000433259 RCV000529512 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
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA000268

rs_121909225

5 SubmittersRCV000008271 RCV000790896 RCV006424600

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

SNV
Germline/somatic

Chr10:87925557

Likely pathogenic

Cowden syndrome 1
PTEN hamartoma tumor syndrome
Familial meningioma
Glioma susceptibility 2
Prostate cancer
Macrocephaly-autism syndrome
Cowden syndrome 1
Hereditary cancer-predisposing syndrome
Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype

Reviewed By Expert Panel

CA000350

rs_121909226

6 SubmittersRCV000008272 RCV000758229 RCV002496305 RCV004018588 RCV006253454

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
Condition: not provided
Ovarian neoplasm
Cowden syndrome
PTEN-related disorder
Embryonal rhabdomyosarcoma

Reviewed By Expert Panel

CA000437

rs_121909229

21 SubmittersRCV000008275 RCV000131067 RCV000178761 RCV000212880 RCV000427853 RCV002228017 RCV004734504 RCV006253455

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
Glioma susceptibility 2
Prostate cancer
Familial meningioma
Cowden syndrome 1
Macrocephaly-autism syndrome
Familial cancer of breast
Neoplasm

Criteria Provided
Multiple Submitters
No Conflicts

CA000245

rs_121909231

42 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
Condition: not provided
Cowden syndrome 1
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA000381

rs_121909238

9 SubmittersRCV000008298 RCV000645075 RCV003137501 RCV003450619 RCV002433447

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
Glioma susceptibility 2
Cowden syndrome 1

Reviewed By Expert Panel

CA000564

rs_121909239

9 SubmittersRCV000008299 RCV000758222 RCV001775539 RCV002390096 RCV003460437 RCV003450620

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

SNV
Germline

Chr10:87933154

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA000446

rs_121909241

9 SubmittersRCV000008302 RCV000221956 RCV000489810 RCV000656691 RCV003460438 RCV004532311

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

SNV
Germline

Chr1:17027802

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA015910

rs_33927012

31 SubmittersRCV000013633 RCV000034688 RCV000132153 RCV000122002 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
Ovarian neoplasm
Stroke disorder
Macrodactyly of toe
CLAPO syndrome
Cowden syndrome 1
Megalencephaly-capillary malformation-polymicrogyria syndrome
Hemihypertrophy
CEREBRAL CAVERNOUS MALFORMATIONS 4, SOMATIC
Colorectal cancer
Condition: not provided
Cavernous lymphangioma
Neoplasm
Inborn genetic diseases
Medulloblastoma WNT activated
Rosette-forming glioneuronal tumor
Diffuse midline glioma, H3 K27M-mutant

Criteria Provided
Multiple Submitters
No Conflicts

CA123328

rs_121913279

14 SubmittersRCV000014629 RCV000032905 RCV000201235 RCV000422323 RCV000626894 RCV000709692 RCV000987367 RCV001253236 RCV001526597 RCV001728092 RCV001807728 RCV002254265 RCV004527292 RCV004668728 RCV004649064 RCV006253567 RCV006253565 RCV006253566

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

SNV
Germline/somatic

Chr14:104780214

Pathogenic

Breast adenocarcinoma
Carcinoma of colon
Ovarian neoplasm
Proteus syndrome
Cowden syndrome 6
Condition: not provided
Neoplasm
Meningioma
Medulloblastoma SHH activated and TP53 wild-type
Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype

Criteria Provided
Multiple Submitters
No Conflicts

CA123660

rs_121434592

8 SubmittersRCV000015017 RCV000015018 RCV000015019 RCV000031926 RCV000795313 RCV001813745 RCV004668732 RCV005647963 RCV006253622 RCV006253621

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
CLAPO syndrome
Lip and oral cavity carcinoma
Cerebrofacial Vascular Metameric Syndrome (CVMS)
CEREBRAL CAVERNOUS MALFORMATIONS 4, SOMATIC
Abnormal cardiovascular system morphology
Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
PIK3CA-related overgrowth
PIK3CA related overgrowth syndrome
PIK3CA-related disorder
Rare venous malformation
Cowden syndrome
Megalencephaly-capillary malformation-polymicrogyria syndrome
Neoplasm
HEMIFACIAL MYOHYPERPLASIA, SOMATIC
Rosette-forming glioneuronal tumor
Alveolar rhabdomyosarcoma
Diffuse midline glioma, H3 K27M-mutant
Vascular malformation
Glioma
Cervical squamous cell carcinoma

Reviewed By Expert Panel

CA333572

rs_121913273

20 SubmittersRCV000024622 RCV000151649 RCV000154513 RCV000416776 RCV000709693 RCV001255687 RCV001730477 RCV001728093 RCV001327962 RCV001836714 RCV003987334 RCV003458190 RCV004532404 RCV004527296 RCV002513230 RCV004698785 RCV004668742 RCV003764635 RCV006253684 RCV006253682 RCV006253686 RCV006253685 RCV006253683 RCV006456623

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

SNV
Germline/somatic

Chr3:179210192

Pathogenic

CLOVES syndrome
Ovarian neoplasm
PIK3CA related overgrowth syndrome
CLAPO syndrome
Abnormal cardiovascular system morphology
Segmental undergrowth associated with lymphatic malformation
Capillary malformation
Condition: not provided
Rare combined vascular malformation
Cowden syndrome
Neoplasm
Colorectal cancer
Neuroblastoma
Medulloblastoma WNT activated
IDH-wildtype glioblastoma
Immature ovarian teratoma
Colon adenocarcinoma
PIK3CA-related disorder
Diffuse midline glioma, H3 K27M-mutant

Criteria Provided
Multiple Submitters
No Conflicts

CA180900

rs_121913272

18 SubmittersRCV000024623 RCV000154512 RCV000201232 RCV000709694 RCV001327960 RCV001705599 RCV001526612 RCV002054475 RCV004527297 RCV003588566 RCV004668743 RCV005603590 RCV006253688 RCV006253690 RCV006253691 RCV006253692 RCV006253687 RCV005867798 RCV006253689

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
PIK3C1-related disorder

Reviewed By Expert Panel

CA130467

rs_587776932

21 SubmittersRCV000032907 RCV000414672 RCV001327966 RCV001594376 RCV001836717 RCV001852661 RCV002254272 RCV002274888 RCV003233078 RCV004798751 RCV004737167 RCV004955261 RCV005222712

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
Epidermal nevus
Diffuse midline glioma, H3 K27M-mutant
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA130469

rs_397514565

11 SubmittersRCV000032908 RCV000201233 RCV000806643 RCV004532477 RCV005229840 RCV006253701 RCV005241335

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
Sialoblastoma
Diffuse midline glioma, H3 K27M-mutant

Criteria Provided
Multiple Submitters
No Conflicts

CA130471

rs_121913281

15 SubmittersRCV000032909 RCV000038675 RCV000698423 RCV000763508 RCV001092441 RCV001705625 RCV002226661 RCV003233079 RCV003882732 RCV004698336 RCV004955262 RCV006253703 RCV006253702

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/somatic

Chr10:87933090

Pathogenic

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

Reviewed By Expert Panel

CA000401

rs_398123321

7 SubmittersRCV000078613 RCV000758231 RCV001807780 RCV002321573 RCV006273506

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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA222937

rs_398124225

5 SubmittersRCV000081403 RCV001843475 RCV003764767

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

7 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
Carney-Stratakis syndrome
Pheochromocytoma
Paragangliomas with sensorineural hearing loss
Cowden syndrome 3
Pheochromocytoma/paraganglioma syndrome 1
Hereditary pheochromocytoma and paraganglioma
SDHD-related disorder

Criteria Provided
Conflicting Classifications

CA016754

rs_141802836

8 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
Carney-Stratakis syndrome
Cowden syndrome 3
Pheochromocytoma
SDHD-related disorder
Mitochondrial complex 2 deficiency, nuclear type 3
Hereditary pheochromocytoma and paraganglioma
Pheochromocytoma/paraganglioma syndrome 1

Criteria Provided
Conflicting Classifications

CA016634

rs_142135772

13 SubmittersRCV000122009 RCV000130895 RCV001546458 RCV002228625 RCV003398736 RCV003474733 RCV005401328 RCV005859508

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

SNV
Germline

Chr11:112088952

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA016696

rs_199517389

5 SubmittersRCV000122010 RCV000568887 RCV002515893 RCV004998244 RCV006547615

NM_000314.8(PTEN):c.258A>G (p.Ala86=)

SNV
Germline

Chr10:87933017

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA000370

rs_587780710

7 SubmittersRCV000123047 RCV000163972 RCV000421623 RCV004998249 RCV005420551

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

SNV
Germline/somatic

Chr10:87933138

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA000426

rs_587781255

5 SubmittersRCV000128454 RCV000479167 RCV001021176 RCV003453057 RCV005229955

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

SNV
Germline

Chr10:87952116

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Cowden syndrome 1
PTEN hamartoma tumor syndrome
Squamous cell lung carcinoma
Familial cancer of breast

Reviewed By Expert Panel

CA000478

rs_587781784

11 SubmittersRCV000130038 RCV000254682 RCV000515821 RCV000710293 RCV005886912 RCV005886911

NM_000314.8(PTEN):c.389G>C (p.Arg130Pro)

SNV
Germline

Chr10:87933148

Pathogenic

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

Reviewed By Expert Panel

CA000439

rs_121909229

4 SubmittersRCV000130803 RCV000532163 RCV006449358

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

Criteria Provided
Multiple Submitters
No Conflicts

CA000471

rs_587782187

5 SubmittersRCV000130817 RCV000212878 RCV000477134 RCV003453078 RCV005042264

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

SNV
Germline

Chr11:112087959

Pathogenic

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

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
PTEN hamartoma tumor syndrome
Breast and/or ovarian cancer
Gastric cancer
Cowden syndrome 1
Macrocephaly-autism syndrome
Familial meningioma
Glioma susceptibility 2
Familial prostate cancer
Macrocephaly-autism syndrome

Reviewed By Expert Panel

CA000559

rs_587782350

19 SubmittersRCV000131292 RCV000212883 RCV000660237 RCV000613031 RCV001270998 RCV003162587 RCV005394484 RCV005621882

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

6 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
Malignant tumor of esophagus
Thymoma

Reviewed By Expert Panel

CA000591

rs_587782455

11 SubmittersRCV000131528 RCV000212884 RCV000516134 RCV000710295 RCV004532571 RCV005886929 RCV005886930

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

SNV
Germline

Chr10:87952118

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA000480

rs_587782603

6 SubmittersRCV000131967 RCV001092597 RCV003453088 RCV003509496

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

Criteria Provided
Conflicting Classifications

CA016681

rs_202198133

7 SubmittersRCV000144171 RCV000484125 RCV001290090 RCV002415627 RCV002515941 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 and paraganglioma
Hereditary cancer-predisposing syndrome
Condition: not provided
Paragangliomas with sensorineural hearing loss
Carney-Stratakis syndrome
Pheochromocytoma
Cowden syndrome 3
Pheochromocytoma/paraganglioma syndrome 1

Criteria Provided
Conflicting Classifications

CA016726

rs_201372601

11 SubmittersRCV000144172 RCV000454533 RCV000505355 RCV001023072 RCV000994727 RCV002228513 RCV006554470

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

SNV
Germline/somatic

Chr3:179199690

Pathogenic

Cowden syndrome 5
Condition: not provided
Angioosteohypertrophic syndrome
Keratoacanthoma
Cowden syndrome
PIK3CA related overgrowth syndrome
Diffuse glioma, H3 G34 mutant
Neoplasm
Dysembryoplastic neuroepithelial tumor
Embryonal rhabdomyosarcoma
Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype

Criteria Provided
Multiple Submitters
No Conflicts

CA170883

rs_587777790

10 SubmittersRCV000144506 RCV001726000 RCV002254279 RCV001849317 RCV002512561 RCV004719712 RCV006253827 RCV006273563 RCV006253828 RCV006253825 RCV006253826

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_003000.3(SDHB):c.79C>G (p.Arg27Gly)

SNV
Germline

Chr1:17044882

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA016179

rs_74315369

10 SubmittersRCV000148870 RCV000408969 RCV000455540 RCV000492780 RCV000477264 RCV001527323 RCV003474796 RCV005365043 RCV006547641

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
Medulloblastoma WNT activated

Criteria Provided
Multiple Submitters
No Conflicts

CA183868

rs_121913283

6 SubmittersRCV000155959 RCV000201237 RCV000699681 RCV001526545 RCV002293423 RCV006253845

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

SNV
Germline

Chr20:18543155

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

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
Cowden syndrome 7
Congenital dyserythropoietic anemia, type II
Cowden syndrome 7
not specified

Criteria Provided
Conflicting Classifications

CA234903

rs_6045440

8 SubmittersRCV000153925 RCV000490449 RCV001082004 RCV001335411 RCV005229985

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

SNV
Germline

Chr20:18542380

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

CA234906

rs_727504145

7 SubmittersRCV000153928 RCV000779341 RCV001850108 RCV004737238

NM_000314.8(PTEN):c.*8T>G

SNV
Germline

Chr10:87965480

Conflicting classifications of pathogenicity

Condition: not provided
Cowden syndrome 1

Criteria Provided
Conflicting Classifications

CA000627

rs_727504115

2 SubmittersRCV000153793 RCV005425742

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

SNV
Germline/somatic

Chr10:87864539

Pathogenic

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

Reviewed By Expert Panel

CA000187

rs_786201995

9 SubmittersRCV000165524 RCV000678734 RCV000785578 RCV001315436 RCV001523840 RCV004798791 RCV005051757 RCV006273600

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
Colon adenocarcinoma
Cervical cancer

Reviewed By Expert Panel

CA000129

rs_786203847

8 SubmittersRCV000167333 RCV000212879 RCV000710306 RCV002288765 RCV005889635 RCV005889636

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

SNV
Germline

Chr10:87933020

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA000137

rs_149772796

8 SubmittersRCV000166821 RCV000412378 RCV000545595 RCV000612380

NM_000314.8(PTEN):c.349A>C (p.Asn117His)

SNV
Germline

Chr10:87933108

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA000145

rs_771310592

8 SubmittersRCV000165033 RCV000216601 RCV000524733 RCV003468728 RCV005049442

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
Cowden syndrome 1
Glioma susceptibility 2
Glioma
Neoplasm

Criteria Provided
Multiple Submitters
No Conflicts

CA000151

rs_786201044

15 SubmittersRCV000162428 RCV000202582 RCV000212881 RCV000463307 RCV000587477 RCV000785388 RCV003389317 RCV003462114 RCV004798789 RCV006273581

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
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA000175

rs_786202733

4 SubmittersRCV000165694 RCV003316046 RCV003509505 RCV005222791

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
Macrocephaly-autism syndrome
Neoplasm

Criteria Provided
Multiple Submitters
No Conflicts

CA000193

rs_786202918

10 SubmittersRCV000165985 RCV000490581 RCV000756578 RCV003454410 RCV005867974 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
Cowden syndrome 1

Reviewed By Expert Panel

CA000207

rs_398123329

8 SubmittersRCV000163498 RCV001559615 RCV001269397 RCV003454396 RCV003493469 RCV004668823 RCV005861065

NM_000314.8(PTEN):c.892C>T (p.Gln298Ter)

SNV
Germline

Chr10:87960984

Pathogenic

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

Reviewed By Expert Panel

CA000219

rs_371387815

5 SubmittersRCV000167405 RCV000315739 RCV000645029 RCV005867976

NM_000314.8(PTEN):c.923G>A (p.Arg308His)

SNV
Germline

Chr10:87961015

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA000228

rs_786201507

9 SubmittersRCV000163774 RCV000180139 RCV000645041 RCV003153440 RCV005394594

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
Diffuse glioma, H3 G34 mutant
Uterine corpus endometrial carcinoma
Melanoma

Reviewed By Expert Panel

CA000103

rs_786201041

10 SubmittersRCV000162423 RCV000515989 RCV000710314 RCV001528105 RCV006253856 RCV005888598 RCV005888597

NM_000314.8(PTEN):c.1062G>A (p.Pro354=)

SNV
Germline

Chr10:87965322

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA000109

rs_786202751

11 SubmittersRCV000165723 RCV000467139 RCV001079814 RCV001818384 RCV005420670

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

SNV
Germline

Chr11:112089001

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA016659

rs_786202403

3 SubmittersRCV000165195 RCV002228740 RCV006547705

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

SNV
Germline

Chr11:112094902

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA017004

rs_786203932

3 SubmittersRCV000167450 RCV000478572 RCV002228995

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

SNV
Germline/somatic

Chr10:87864518

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA000485

rs_786204910

6 SubmittersRCV000169851 RCV000204017 RCV001002035 RCV003454440 RCV005230034

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/somatic

Chr10:87864546

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA000574

rs_786204853

5 SubmittersRCV001065725 RCV001263192 RCV001420273 RCV002408731 RCV005230032

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

SNV
Germline/somatic

Chr10:87925530

Likely pathogenic

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

Reviewed By Expert Panel

CA000332

rs_398123316

7 SubmittersRCV000491953 RCV000490582 RCV000785574 RCV003454430

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

SNV
Germline/somatic

Chr10:87925550

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Cowden syndrome 1
PTEN hamartoma tumor syndrome
Macrocephaly-autism syndrome
Familial meningioma
Prostate cancer
Cowden syndrome 1
Glioma susceptibility 2
Macrocephaly-autism syndrome
Macrocephaly-autism syndrome
Cowden syndrome 1
Glioma susceptibility 2
Medulloblastoma non-WNT/non-SHH group 4

Criteria Provided
Multiple Submitters
No Conflicts

CA000342

rs_398123317

13 SubmittersRCV000169864 RCV000491290 RCV000499784 RCV000552740 RCV002505225 RCV003231353 RCV003313047 RCV003462271 RCV006253867

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

SNV
Germline/somatic

Chr10:87931090

Pathogenic

Condition: not provided
Cowden syndrome 1
PTEN hamartoma tumor syndrome
Macrocephaly-autism syndrome
Hereditary cancer-predisposing syndrome
Neoplasm
Nonpapillary renal cell carcinoma
Cervical cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA000364

rs_587776667

9 SubmittersRCV000169865 RCV000515902 RCV000645046 RCV001836741 RCV002453570 RCV005230035 RCV005889652 RCV005889653

NM_000314.8(PTEN):c.289C>T (p.Gln97Ter)

SNV
Germline

Chr10:87933048

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA000386

rs_786204928

4 SubmittersRCV000169873 RCV000645061 RCV002433728 RCV005396505

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
Primary central nervous system lymphoma

Reviewed By Expert Panel

CA000451

rs_786204859

8 SubmittersRCV000169797 RCV000217011 RCV000552515 RCV003332137 RCV003454431 RCV006455052

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

Likely pathogenic

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

Reviewed By Expert Panel

CA000496

rs_786204865

7 SubmittersRCV000582640 RCV002345569 RCV002515206 RCV002505224 RCV005867983 RCV005230033

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

SNV
Germline/somatic

Chr10:87952142

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
PTEN hamartoma tumor syndrome
not specified
Cowden syndrome 1
Macrocephaly-autism syndrome
VACTERL with hydrocephalus
Cowden syndrome 1
Neurodevelopmental delay
Cowden syndrome 1
Glioma susceptibility 2
Prostate cancer
Macrocephaly-autism syndrome
Familial meningioma
Glioma susceptibility 2
Malignant lymphoma, large B-cell, diffuse
Neoplasm
Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype

Reviewed By Expert Panel

CA000498

rs_121913293

22 SubmittersRCV000169890 RCV000218276 RCV000490574 RCV000678738 RCV000850588 RCV001813763 RCV002273970 RCV002478525 RCV003468848 RCV003448976 RCV005230036 RCV006253868

NM_000314.8(PTEN):c.599T>C (p.Phe200Ser)

SNV
Germline

Chr10:87952224

Likely pathogenic

Condition: not provided
PTEN hamartoma tumor syndrome
Cowden syndrome 1

Reviewed By Expert Panel

CA000532

rs_786204867

5 SubmittersRCV000169807 RCV000802437 RCV003223341

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
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA000584

rs_786204873

4 SubmittersRCV000169813 RCV001384751 RCV003454433 RCV005462903

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

SNV
Germline

Chr10:87960892

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA000590

rs_587782455

7 SubmittersRCV000491383 RCV000470021 RCV000515982 RCV003884371 RCV005055668

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

SNV
Germline

Chr10:87961011

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA000633

rs_746930141

4 SubmittersRCV000169816 RCV003454434 RCV004535155 RCV005462904

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

SNV
Germline

Chr10:87961119

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA000253

rs_786201041

5 SubmittersRCV000515893 RCV000570522 RCV001578271 RCV002516536 RCV005889654

NM_006363.6(SEC23B):c.569G>A (p.Arg190Gln)

SNV
Germline

Chr20:18524635

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

CA246116

rs_201160833

7 SubmittersRCV000178916 RCV001071842 RCV001141445 RCV004737283

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
Congenital dyserythropoietic anemia, type II
Cowden syndrome 7
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.174T>C (p.Asp58=)

SNV
Germline

Chr10:87925522

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA059407

rs_769719835

7 SubmittersRCV000195787 RCV000581140 RCV001284055 RCV005425795

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

SNV
Germline

Chr10:87960952

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA279050

rs_863224909

4 SubmittersRCV000200784 RCV000763222 RCV004020478 RCV005090018

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
Vascular malformation
PIK3CA-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA279138

rs_863225060

6 SubmittersRCV000201238 RCV001221647 RCV002254285 RCV006253883 RCV004737318

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

SNV
Germline/somatic

Chr3:179234286

Pathogenic

PIK3CA related overgrowth syndrome
Cowden syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA210107

rs_121913283

4 SubmittersRCV000201236 RCV000631214 RCV003320599

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

SNV
Germline/somatic

Chr3:179218305

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

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

Criteria Provided
Conflicting Classifications

CA277884

rs_146276662

8 SubmittersRCV000202919 RCV000575031 RCV001105197 RCV003103746 RCV005396627 RCV004998421

NM_003000.3(SDHB):c.65G>C (p.Cys22Ser)

SNV
Germline

Chr1:17053955

Conflicting classifications of pathogenicity

Pheochromocytoma/paraganglioma syndrome 4
Gastrointestinal stromal tumor
Pheochromocytoma
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary pheochromocytoma and paraganglioma
Carney-Stratakis syndrome
Gastrointestinal stromal tumor
Cowden syndrome
not specified

Criteria Provided
Conflicting Classifications

CA089705

rs_141230910

9 SubmittersRCV000206152 RCV000573095 RCV000596063 RCV001101396 RCV001095936 RCV005361203 RCV006273635

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

SNV
Germline

Chr14:104770390

Conflicting classifications of pathogenicity

Cowden syndrome 6
Condition: not provided
Proteus syndrome
Colorectal cancer
Cowden syndrome 6
Ovarian cancer
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA349773

rs_113547523

4 SubmittersRCV000205643 RCV003237770 RCV005008148

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

Pathogenic

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

Reviewed By Expert Panel

CA357779

rs_869312776

5 SubmittersRCV000210082 RCV001853360 RCV003228913 RCV003165516

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

Chr10:87957852

Pathogenic/Likely pathogenic

Condition: not provided
Cowden syndrome 1
PTEN hamartoma tumor syndrome
Hereditary cancer-predisposing syndrome
Squamous cell lung carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA10577419

rs_876661024

9 SubmittersRCV000221132 RCV000515885 RCV000645031 RCV001182324 RCV005895070

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
Hereditary cancer-predisposing syndrome
Cowden syndrome 1

Criteria Provided
Conflicting Classifications

CA10577425

rs_876661264

8 SubmittersRCV000221425 RCV000231001 RCV000573110 RCV000663026

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/somatic

Chr10:87925551

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
PTEN hamartoma tumor syndrome
Cowden syndrome 1
Condition: not provided
Diffuse glioma, H3 G34 mutant

Criteria Provided
Multiple Submitters
No Conflicts

CA10578910

rs_876660634

8 SubmittersRCV000215167 RCV000690989 RCV001332358 RCV001551732 RCV006253919

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

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10579346

rs_876658477

10 SubmittersRCV000219575 RCV000986022 RCV001294091 RCV002229212 RCV002282052 RCV003475006 RCV006554500

NM_003000.3(SDHB):c.178A>G (p.Thr60Ala)

SNV
Germline

Chr1:17044783

Conflicting classifications of pathogenicity

Pheochromocytoma/paraganglioma syndrome 4
Gastrointestinal stromal tumor
Pheochromocytoma
Hereditary cancer-predisposing syndrome
Gastrointestinal stromal tumor
Hereditary pheochromocytoma and paraganglioma
Carney-Stratakis syndrome
Pheochromocytoma/paraganglioma syndrome 4
Condition: not provided
not specified
SDHB-related disorder
Cowden syndrome

Criteria Provided
Conflicting Classifications

CA089521

rs_34599281

13 SubmittersRCV000231407 RCV000568901 RCV000626075 RCV001095844 RCV001100086 RCV001294008 RCV001563210 RCV002465589 RCV004732805 RCV005361412

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

3 SubmittersRCV000234288 RCV003454704

NM_003002.4(SDHD):c.51A>C (p.Arg17=)

SNV
Germline

Chr11:112086958

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10582867

rs_199890548

2 SubmittersRCV002229352 RCV004668867

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

SNV
Germline

Chr11:112094851

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10582872

rs_878854594

2 SubmittersRCV002229350 RCV002288922

NM_006218.4(PIK3CA):c.1490A>G (p.Asn497Ser)

SNV
Germline

Chr3:179210516

Conflicting classifications of pathogenicity

Cowden syndrome
not specified

Criteria Provided
Conflicting Classifications

CA2710731

rs_753879573

2 SubmittersRCV000236695 RCV005434750

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/somatic

Chr3:179199148

Pathogenic/Likely pathogenic

Condition: not provided
not specified
Megalencephaly-capillary malformation-polymicrogyria syndrome
Cowden syndrome
See cases
Neoplasm
Inborn genetic diseases
Embryonal rhabdomyosarcoma

Criteria Provided
Multiple Submitters
No Conflicts

CA10602871

rs_886042002

9 SubmittersRCV000404833 RCV001195259 RCV001353357 RCV001859541 RCV002287404 RCV005230225 RCV006362187 RCV006253937

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

SNV
Germline

Chr10:87894025

Likely pathogenic

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

Reviewed By Expert Panel

CA10603162

rs_886041877

5 SubmittersRCV000355517 RCV001855073 RCV002418104 RCV003454785

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

SNV
Germline

Chr10:87952264

Pathogenic

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

Reviewed By Expert Panel

CA10603167

rs_138336847

8 SubmittersRCV000285177 RCV000491116 RCV000703228 RCV001526576 RCV002479995

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

SNV
Germline

Chr20:18524585

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9778047

rs_138314893

6 SubmittersRCV000395336 RCV001079079 RCV001141444 RCV004547716

NM_003000.3(SDHB):c.700C>T (p.Leu234=)

SNV
Germline

Chr1:17022673

Conflicting classifications of pathogenicity

Hereditary pheochromocytoma and paraganglioma
Carney-Stratakis syndrome
Hereditary cancer-predisposing syndrome
Pheochromocytoma/paraganglioma syndrome 4
Gastrointestinal stromal tumor
Pheochromocytoma
Condition: not provided
Pheochromocytoma/paraganglioma syndrome 4
Cowden syndrome

Criteria Provided
Conflicting Classifications

CA089712

rs_201728852

11 SubmittersRCV000279182 RCV000317866 RCV000568441 RCV000633984 RCV002061161 RCV003316465 RCV005355619

NM_000314.8(PTEN):c.-111G>T

SNV
Germline

Chr10:87864359

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10629379

rs_761148721

7 SubmittersRCV000289601 RCV000663003 RCV001820879 RCV004692947 RCV004734962

NM_000314.8(PTEN):c.-121A>G

SNV
Germline

Chr10:87864349

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10632764

rs_886047395

4 SubmittersRCV000381673 RCV000582981 RCV002480098 RCV006263849

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

SNV
Germline

Chr11:112087857

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA071521

rs_192332761

15 SubmittersRCV000344579 RCV000506525 RCV000571997 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
Cowden syndrome 7
Congenital dyserythropoietic anemia, type II

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

Criteria Provided
Conflicting Classifications

CA9778321

rs_146587686

5 SubmittersRCV000282343 RCV000890287 RCV001532448 RCV005896232

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

SNV
Germline

Chr20:18548674

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9778503

rs_139882548

4 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
Cowden syndrome 7
Congenital dyserythropoietic anemia, type II

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

Criteria Provided
Conflicting Classifications

CA9778252

rs_142461689

6 SubmittersRCV000275527 RCV000945938 RCV001509049 RCV004549773

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
Malignant tumor of urinary bladder
Clear cell carcinoma of kidney

Reviewed By Expert Panel

CA16042723

rs_1057517809

7 SubmittersRCV000414617 RCV000491449 RCV000690306 RCV000785587 RCV003449035 RCV005900667 RCV005900668

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

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

Reviewed By Expert Panel

CA16602437

rs_121909224

8 SubmittersRCV000677621 RCV000790885 RCV001796030 RCV001808792 RCV004659022 RCV005230287

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
PTEN-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA060209

rs_121913294

16 SubmittersRCV000490595 RCV000484180 RCV002289517 RCV002338980 RCV004668926 RCV005869414

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

SNV
Germline/somatic

Chr3:179199088

Pathogenic

Ovarian neoplasm
Cowden syndrome
Condition: not provided
PIK3CA related overgrowth syndrome
Abnormal cerebral morphology
Megalencephaly-capillary malformation-polymicrogyria syndrome
Neoplasm
CLOVES syndrome
Cowden syndrome 5
Pilocytic astrocytoma
Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype
Medulloblastoma WNT activated
Giant cell glioblastoma

Criteria Provided
Multiple Submitters
No Conflicts

CA16602516

rs_121913287

12 SubmittersRCV000785354 RCV001224952 RCV001562650 RCV002274026 RCV002275002 RCV003225067 RCV004668930 RCV004767253 RCV003995942 RCV006253972 RCV006253973 RCV006253974 RCV006253975

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

SNV
Germline/somatic

Chr3:179234219

Pathogenic

Abnormal cardiovascular system morphology
Cowden syndrome
Neoplasm
Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype

Criteria Provided
Single Submitter

CA16602699

rs_121913288

4 SubmittersRCV001327967 RCV001851016 RCV006273725 RCV006253994

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

SNV
Germline/somatic

Chr3:179210291

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16602904

rs_1057519925

14 SubmittersRCV000785580 RCV000991209 RCV001327961 RCV001526693 RCV001775789 RCV001861479 RCV002244865 RCV002472374 RCV006273732

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
Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype
Dysembryoplastic neuroepithelial tumor
Neoplasm

Reviewed By Expert Panel

CA16602910

rs_867262025

12 SubmittersRCV000484330 RCV000624735 RCV001836817 RCV001851018 RCV003152707 RCV003233633 RCV006254011 RCV006254012 RCV006273733

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

SNV
Germline/somatic

Chr3:179199066

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16602912

rs_1057519929

8 SubmittersRCV001327958 RCV001526599 RCV001542570 RCV001837893 RCV002524695 RCV003458199 RCV005230297

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
Somatic

Chr3:179199156

Conflicting classifications of pathogenicity

Cowden syndrome 5
PIK3CA related overgrowth syndrome
Diffuse midline glioma, H3 K27M-mutant

Criteria Provided
Conflicting Classifications

CA16602916

rs_1057519933

3 SubmittersRCV003147452 RCV005251125 RCV006254013

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
Intestinal duplication
Abnormality of the hairline
Hypertelorism
Diaphragmatic eventration
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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16602940

rs_121909229

11 SubmittersRCV000490825 RCV000482735 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

15 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

5 SubmittersRCV000427194 RCV000580562 RCV000921932 RCV002470856

NM_000314.8(PTEN):c.1161A>G (p.Pro387=)

SNV
Germline

Chr10:87965421

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16605993

rs_1057523975

9 SubmittersRCV000526355 RCV000565755 RCV001712302 RCV005426012 RCV005398557

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

SNV
Germline

Chr10:87894110

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16606092

rs_1554893835

4 SubmittersRCV000433720 RCV000491416 RCV002521586 RCV003449057

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

Pheochromocytoma/paraganglioma syndrome 4
Pheochromocytoma
Gastrointestinal stromal tumor
Hereditary cancer-predisposing syndrome
Cowden syndrome
Pheochromocytoma
Condition: not provided
not specified
Hereditary pheochromocytoma and paraganglioma
Gastrointestinal stromal tumor
Carney-Stratakis syndrome
Pheochromocytoma/paraganglioma syndrome 4
Mitochondrial complex 2 deficiency, nuclear type 4
Gastrointestinal stromal tumor

Criteria Provided
Conflicting Classifications

CA089628

rs_774568101

11 SubmittersRCV000469133 RCV000492611 RCV000708786 RCV001294088 RCV001755709 RCV002282162 RCV004001997 RCV004568126 RCV005398640

NM_006218.4(PIK3CA):c.140A>G (p.His47Arg)

SNV
Germline

Chr3:179198965

Conflicting classifications of pathogenicity

Cowden syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2710500

rs_190372148

2 SubmittersRCV000460046 RCV002223207

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.783G>A (p.Gln261=)

SNV
Germline

Chr10:87958001

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA060472

rs_760146269

8 SubmittersRCV000573992 RCV000831556 RCV001080099 RCV004533205 RCV005421820

NM_000314.8(PTEN):c.175T>C (p.Ser59Pro)

SNV
Germline

Chr10:87925523

Conflicting classifications of pathogenicity

PTEN hamartoma tumor syndrome
Cowden syndrome 1

Criteria Provided
Conflicting Classifications

CA16613153

rs_1060500118

2 SubmittersRCV000464900 RCV006550072

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16613155

rs_1060500116

4 SubmittersRCV000473713 RCV002402229 RCV003449109 RCV005044654

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_000314.8(PTEN):c.801+9T>C

SNV
Germline

Chr10:87958028

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16613170

rs_1060503839

5 SubmittersRCV000466158 RCV000579558 RCV000615229 RCV001798843 RCV005421817

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

SNV
Germline

Chr11:112094805

Pathogenic

Pheochromocytoma
Cowden syndrome 3
Carney-Stratakis syndrome
Paragangliomas with sensorineural hearing loss
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
PTEN hamartoma tumor syndromes
Condition: not provided
Gastric cancer
Cowden syndrome 1
Macrocephaly-autism syndrome
Papillary tumor of the pineal region
Glioma susceptibility 2
Cowden syndrome

Reviewed By Expert Panel

CA16613246

rs_1060500126

20 SubmittersRCV000475421 RCV000656112 RCV001022838 RCV001258059 RCV001092596 RCV003168731 RCV003326136 RCV003492047 RCV003470396 RCV006252452

NM_000314.8(PTEN):c.517C>A (p.Arg173Ser)

SNV
Germline

Chr10:87952142

Conflicting classifications of pathogenicity

PTEN hamartoma tumor syndrome
Cowden syndrome 1

Criteria Provided
Conflicting Classifications

CA16613248

rs_121913293

2 SubmittersRCV000460834 RCV005252897

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

SNV
Germline

Chr11:112088967

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA070986

rs_766656463

5 SubmittersRCV002431384 RCV002231076 RCV004002233 RCV005421922

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

SNV
Germline

Chr11:112094815

Pathogenic

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

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
Cowden syndrome 3
Carney-Stratakis syndrome
Paragangliomas with sensorineural hearing loss
Pheochromocytoma
Pheochromocytoma/paraganglioma syndrome 1
Mitochondrial complex 2 deficiency, nuclear type 3
Pheochromocytoma/paraganglioma syndrome 1
Mitochondrial complex 2 deficiency, nuclear type 3
Carney-Stratakis syndrome
Hereditary pheochromocytoma and paraganglioma

Criteria Provided
Conflicting Classifications

CA071246

rs_201869798

8 SubmittersRCV000565076 RCV001591105 RCV002230665 RCV003325203 RCV003476144 RCV005398641 RCV006550152

NM_000314.8(PTEN):c.759C>T (p.Ile253=)

SNV
Germline

Chr10:87957977

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA060465

rs_752250585

8 SubmittersRCV000469547 RCV000491272 RCV006273792 RCV005421822 RCV006260002

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

SNV
Germline

Chr11:112088966

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA070965

rs_200255724

5 SubmittersRCV001016345 RCV001252746 RCV002230664 RCV003235231 RCV006550151

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

Criteria Provided
Conflicting Classifications

CA070974

rs_200255724

7 SubmittersRCV000562410 RCV001584171 RCV001821298 RCV002230663 RCV005355869 RCV006550150

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
Cowden syndrome 3
Carney-Stratakis syndrome
Paragangliomas with sensorineural hearing loss
Pheochromocytoma
Pheochromocytoma/paraganglioma syndrome 1
Mitochondrial complex 2 deficiency, nuclear type 3
Hereditary pheochromocytoma and paraganglioma

Criteria Provided
Conflicting Classifications

CA070935

rs_199517389

10 SubmittersRCV000508222 RCV000562051 RCV001328335 RCV002230195 RCV003153649 RCV003476141 RCV004002008

NM_006218.4(PIK3CA):c.278G>A (p.Arg93Gln)

SNV
Germline/somatic

Chr3:179199103

Pathogenic

Condition: not provided
Global developmental delay
Hypospadias
Macrocephaly
Cowden syndrome 5
Neuroblastoma

Criteria Provided
Multiple Submitters
No Conflicts

CA16617846

rs_1064793663

4 SubmittersRCV000487221 RCV002464207 RCV005252905 RCV006254062

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
PIK3CA related overgrowth syndrome
Neoplasm

Criteria Provided
Multiple Submitters
No Conflicts

CA16617848

rs_1064793732

10 SubmittersRCV000484163 RCV000798360 RCV000785369 RCV001526558 RCV002254298 RCV004535503 RCV005251138 RCV006273822

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.45A>T (p.Arg15Ser)

SNV
Germline

Chr10:87864514

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16619041

rs_1064794096

4 SubmittersRCV000480969 RCV001047309 RCV003298549 RCV006633918

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

SNV
Germline

Chr10:87925558

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16619047

rs_1554897280

6 SubmittersRCV000482154 RCV000491897 RCV001197835 RCV001219616 RCV002489144

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

SNV
Germline

Chr10:87933082

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16619052

rs_1064793243

6 SubmittersRCV000479867 RCV000490832 RCV000688225 RCV001357264 RCV003449170

NM_000314.8(PTEN):c.454C>T (p.Leu152=)

SNV
Germline

Chr10:87933213

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16619054

rs_1064795450

4 SubmittersRCV000486635 RCV001477457 RCV002329154 RCV005421942

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
Macrocephaly-autism syndrome
Familial meningioma
Prostate cancer
Cowden syndrome 1
Glioma susceptibility 2
not specified
PTEN-related disorder

Criteria Provided
Conflicting Classifications

CA16619066

rs_1064794436

11 SubmittersRCV000480358 RCV000526594 RCV000561633 RCV002475934 RCV002268122 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_000314.8(PTEN):c.*6T>C

SNV
Germline

Chr10:87965478

Conflicting classifications of pathogenicity

not specified
Cowden syndrome 1

Criteria Provided
Conflicting Classifications

CA16619074

rs_1064794975

2 SubmittersRCV000478610 RCV005421938

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

SNV
Germline

Chr11:112086908

Pathogenic

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

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
Cowden syndrome 3
Carney-Stratakis syndrome
Paragangliomas with sensorineural hearing loss
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/Likely pathogenic

PTEN hamartoma tumor syndrome
Condition: not provided
Cowden syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA377784538

rs_1085308042

4 SubmittersRCV000490575 RCV001092593 RCV003492073

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

SNV
Germline

Chr10:87925511

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA377784973

rs_1085308043

5 SubmittersRCV000490612 RCV001012591 RCV000516092 RCV000657856

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

SNV
Germline

Chr10:87931090

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA377481417

rs_587776667

3 SubmittersRCV003316641 RCV000490594 RCV000491885

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

Chr10:87957850

Likely pathogenic

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

Reviewed By Expert Panel

CA645294060

rs_1085308056

8 SubmittersRCV000490589 RCV000853544 RCV000491647 RCV005899738 RCV004591433

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

SNV
Germline

Chr10:87957852

Pathogenic/Likely pathogenic

PTEN hamartoma tumor syndrome
Condition: not provided
Cowden syndrome 1
Hereditary cancer-predisposing syndrome
Cervical cancer
Pigmentary skin disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA377484748

rs_876661024

7 SubmittersRCV000490578 RCV001591129 RCV003449267 RCV004659069 RCV005899737 RCV006450205

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
Clear cell carcinoma of kidney

Criteria Provided
Multiple Submitters
No Conflicts

CA377487088

rs_1085308041

10 SubmittersRCV000490606 RCV000491514 RCV000522568 RCV003449264 RCV005899736

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

SNV
Germline

Chr10:87925512

Pathogenic

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

Reviewed By Expert Panel

CA377784976

rs_786203847

7 SubmittersRCV000516009 RCV001172259 RCV001525989 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

6 SubmittersRCV000491938 RCV000516142 RCV001050316 RCV001358192

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

SNV
Germline/somatic

Chr10:87931045

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA377481229

rs_1114167621

8 SubmittersRCV000491234 RCV000507780 RCV000515846 RCV000645050 RCV005899739

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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA645553783

rs_1554897889

6 SubmittersRCV001800709 RCV000515839 RCV000684984 RCV004659070

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

SNV
Germline

Chr10:87933252

Pathogenic

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

Reviewed By Expert Panel

CA377482840

rs_1554898242

9 SubmittersRCV001172261 RCV000516072 RCV001292844 RCV005899740 RCV003326441 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
Glioma susceptibility 2
Familial prostate cancer
Macrocephaly-autism syndrome
Familial meningioma
Cowden syndrome 1
Familial cancer of breast

Reviewed By Expert Panel

CA377484731

rs_727504114

6 SubmittersRCV000516099 RCV001172260 RCV002356807 RCV005044738 RCV005899741

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

SNV
Germline/somatic

Chr10:87952263

Pathogenic

Cowden syndrome 1
Neoplasm

No Assertion Criteria Provided

CA658656106

rs_1554900675

2 SubmittersRCV000515852 RCV005230957

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/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA377487087

rs_1085308041

5 SubmittersRCV000516120 RCV001214733 RCV000506504 RCV006424626

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

Neoplasm
Cowden syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA377481230

rs_1114167621

3 SubmittersRCV004669003 RCV003449277 RCV000491942

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

SNV
Germline/somatic

Chr10:87933087

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA377482195

rs_1114167629

6 SubmittersRCV000491715 RCV005230962 RCV003470597 RCV003338616 RCV000537933

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
Condition: not provided

Reviewed By Expert Panel

CA377482278

rs_786204931

5 SubmittersRCV000491887 RCV000693998 RCV001332360 RCV005641649

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

SNV
Germline

Chr10:87933163

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Macrocephaly-autism syndrome
Familial meningioma
Glioma susceptibility 2
Cowden syndrome 1
Prostate cancer

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
Condition: not provided
Macrocephaly-autism syndrome
Cowden syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA377482775

rs_398123325

4 SubmittersRCV000490957 RCV005091018 RCV003447532 RCV003449273

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

SNV
Germline/somatic

Chr10:87952118

Pathogenic

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

Reviewed By Expert Panel

CA377484223

rs_587782603

7 SubmittersRCV000690443 RCV000491530 RCV000522601 RCV003139692 RCV003332184 RCV004568616

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

Chr10:87961120

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA377486192

rs_1114167624

5 SubmittersRCV000491037 RCV000802995 RCV001528106 RCV003449272 RCV005899750

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

Criteria Provided
Multiple Submitters
No Conflicts

CA377482826

rs_1554898235

3 SubmittersRCV000497908 RCV003449392 RCV005091058

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

SNV
Germline

Chr11:112087952

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA382617089

rs_779249550

8 SubmittersRCV000497964 RCV000505346 RCV000569506 RCV002230973 RCV005600958

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

SNV
Germline

Chr11:112088866

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA382617149

rs_1306475361

4 SubmittersRCV000505295 RCV002524414 RCV002413385

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

SNV
Germline

Chr11:112088936

Pathogenic

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

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

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

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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA377484747

rs_876661024

5 SubmittersRCV001067779 RCV000507343 RCV003449453 RCV002367698 RCV005900973

NM_000314.8(PTEN):c.656A>C (p.Gln219Pro)

SNV
Germline

Chr10:87957874

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA377484796

rs_1554825172

4 SubmittersRCV000777175 RCV003509557 RCV005620369 RCV005869577

NM_003001.5(SDHC):c.264G>A (p.Ser88=)

SNV
Germline

Chr1:161356699

Conflicting classifications of pathogenicity

Gastrointestinal stromal tumor
Pheochromocytoma/paraganglioma syndrome 3
Hereditary cancer-predisposing syndrome
Pheochromocytoma/paraganglioma syndrome 3
Cowden syndrome
Hereditary pheochromocytoma and paraganglioma

Criteria Provided
Conflicting Classifications

CA421501010

rs_1277488324

5 SubmittersRCV000532664 RCV001016207 RCV005422046 RCV005357589 RCV006550354

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

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_000314.8(PTEN):c.1107T>C (p.Val369=)

SNV
Germline

Chr10:87965367

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA470671248

rs_1554826048

4 SubmittersRCV000537864 RCV000561004 RCV005000182 RCV005422052

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

SNV
Germline

Chr11:112088925

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA070883

rs_148634289

6 SubmittersRCV000563638 RCV001106324 RCV002231787 RCV005422044

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

SNV
Germline

Chr10:87952250

Pathogenic/Likely pathogenic

PTEN hamartoma tumor syndrome
Cowden syndrome 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA377484690

rs_765433422

3 SubmittersRCV000543987 RCV003451173 RCV006277892

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

SNV
Germline

Chr11:112094903

Conflicting classifications of pathogenicity

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

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA377785062

rs_876660634

3 SubmittersRCV000561145 RCV001028048 RCV006463374

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
PTEN hamartoma tumor syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA377482210

rs_1554898097

4 SubmittersRCV000571971 RCV003225092 RCV003451265 RCV005429255

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
Cowden syndrome 1
PTEN hamartoma tumor syndrome

Reviewed By Expert Panel

CA377784477

rs_1554893792

6 SubmittersRCV000565926 RCV001251390 RCV001559024 RCV003451291 RCV003451292

NM_000314.8(PTEN):c.1005A>G (p.Arg335=)

SNV
Germline

Chr10:87961097

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA470974120

rs_1303065649

5 SubmittersRCV000567153 RCV001351336 RCV005357650

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.*5T>C

SNV
Germline

Chr11:112094975

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
SDHD-related disorder
Hereditary pheochromocytoma and paraganglioma
Cowden syndrome
Pheochromocytoma/paraganglioma syndrome 1

Criteria Provided
Conflicting Classifications

CA071542

rs_201987672

8 SubmittersRCV000575659 RCV001284061 RCV003962625 RCV004000902 RCV005357652 RCV005427005

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

SNV
Germline

Chr11:112089012

Pathogenic

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

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

Criteria Provided
Conflicting Classifications

CA658658106

rs_1555187084

5 SubmittersRCV000566193 RCV002526918 RCV004802240 RCV005231107

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

SNV
Germline

Chr11:112094807

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA382618730

rs_1555187574

6 SubmittersRCV000561906 RCV000660262 RCV002232089 RCV003420005 RCV004808786

NM_000314.8(PTEN):c.1098A>C (p.Thr366=)

SNV
Germline

Chr10:87965358

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA470671176

rs_1554826045

6 SubmittersRCV000584599 RCV001477897 RCV001775910 RCV005427114

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
PTEN hamartoma tumor syndrome
Cowden syndrome 1
Glioma susceptibility 2

Criteria Provided
Multiple Submitters
No Conflicts

CA377484465

rs_1554900615

4 SubmittersRCV000584402 RCV002530820 RCV003451322 RCV003465315

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.*10T>A

SNV
Germline

Chr10:87965482

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA059170

rs_769236743

5 SubmittersRCV000587263 RCV000777646 RCV005422813

NM_000314.8(PTEN):c.228T>C (p.Tyr76=)

SNV
Germline

Chr10:87931064

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA470659998

rs_1554897866

6 SubmittersRCV000604162 RCV001471220 RCV002256407 RCV005422843

NM_000314.8(PTEN):c.369C>T (p.His123=)

SNV
Germline

Chr10:87933128

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA470661796

rs_1085308045

5 SubmittersRCV000605962 RCV001020913 RCV002066612 RCV003334018 RCV005427160

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_006218.4(PIK3CA):c.931A>G (p.Ile311Val)

SNV
Germline

Chr3:179203661

Conflicting classifications of pathogenicity

Cowden syndrome
not specified

Criteria Provided
Conflicting Classifications

CA2710610

rs_201238717

2 SubmittersRCV000631213 RCV005435074

NM_000314.8(PTEN):c.801G>T (p.Lys267Asn)

SNV
Germline

Chr10:87958019

Pathogenic

PTEN hamartoma tumor syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome
Cowden syndrome

Reviewed By Expert Panel

CA377485115

rs_1554825266

7 SubmittersRCV000645055 RCV001312161 RCV002422336 RCV005367480

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_000314.8(PTEN):c.774C>T (p.Phe258=)

SNV
Germline

Chr10:87957992

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA470669983

rs_1554825246

4 SubmittersRCV000645094 RCV001026782 RCV001481854 RCV005427208

NM_000314.8(PTEN):c.1092T>G (p.Ser364=)

SNV
Germline

Chr10:87965352

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA470671131

rs_1355576298

4 SubmittersRCV000645088 RCV004944046 RCV005427206

NM_000314.8(PTEN):c.681C>T (p.Ser227=)

SNV
Germline

Chr10:87957899

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA060394

rs_768662424

4 SubmittersRCV000645079 RCV006424642 RCV005422904

NM_003002.4(SDHD):c.315-3T>C

SNV
Germline

Chr11:112094802

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA658797782

rs_1555187565

4 SubmittersRCV002233494 RCV003162885 RCV005427194 RCV006552578

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

SNV
Germline

Chr20:18535747

Likely pathogenic

Congenital dyserythropoietic anemia, type II
Cowden syndrome 7

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

Congenital dyserythropoietic anemia, type II
Cowden syndrome 7
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

CA377481312

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
Cowden syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA377482058

rs_1554898056

4 SubmittersRCV000657581 RCV001855357 RCV003451601 RCV004026011

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

CA377482365

rs_1554898161

3 SubmittersRCV000657582 RCV000699906 RCV003451602

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

SNV
Germline

Chr10:87933223

Pathogenic/Likely pathogenic

Cowden syndrome 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA377482777

rs_1060500126

2 SubmittersRCV000660235 RCV006260959

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

CA2710603

rs_765030404

2 SubmittersRCV000692375 RCV002532213

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

SNV
Germline

Chr11:112086910

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA382616604

rs_80338842

2 SubmittersRCV002232947 RCV002369946

NM_003002.4(SDHD):c.314+5G>A

SNV
Germline

Chr11:112089016

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA658655598

rs_1566695035

2 SubmittersRCV001775957 RCV002544813

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

SNV
Germline

Chr11:112094906

Likely pathogenic

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

Criteria Provided
Single Submitter

CA382619304

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

CA377484273

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

Criteria Provided
Conflicting Classifications

CA382618914

rs_1566702512

4 SubmittersRCV002547102 RCV003389826 RCV005722178 RCV005427242

NM_000314.8(PTEN):c.275A>G (p.Asp92Gly)

SNV
Germline

Chr10:87933034

Pathogenic/Likely pathogenic

PTEN hamartoma tumor syndrome
Hereditary cancer-predisposing syndrome
Cowden syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA377482085

rs_1114167623

3 SubmittersRCV000685656 RCV002440420 RCV006554574

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

CA377485003

rs_121909239

4 SubmittersRCV000698131 RCV002388286 RCV003479201

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

SNV
Germline

Chr10:87961051

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA377485994

rs_1114167667

3 SubmittersRCV000698110 RCV004026431 RCV003453474

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

SNV
Germline

Chr10:87894089

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA501151

rs_762518389

5 SubmittersRCV000704361 RCV001011640 RCV003453494 RCV003465631

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

SNV
Germline

Chr10:87931044

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA377481223

rs_1564828914

5 SubmittersRCV000698937 RCV001542802 RCV002422549 RCV003229600 RCV005901710

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

SNV
Germline

Chr10:87933144

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA377482316

rs_786204929

3 SubmittersRCV000991299 RCV001257205 RCV002354897

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

CA408363915

rs_1568617456

3 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

CA267350808

rs_377076374

2 SubmittersRCV000706963 RCV004692197

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

SNV
Germline

Chr20:18543178

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9778440

rs_371786580

7 SubmittersRCV000692503 RCV004737954 RCV005901665 RCV001141559 RCV001811442

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

SNV
Germline

Chr1:17018955

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA089764

rs_761350633

6 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

CA377785078

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

CA377484745

rs_1564566706

7 SubmittersRCV000729356 RCV000792482 RCV003453520

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

SNV
Germline

Chr10:87965473

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA594924010

rs_1452888068

3 SubmittersRCV000774549 RCV005422980 RCV006261038

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

SNV
Germline/somatic

Chr10:87957872

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA377484791

rs_1554825165

6 SubmittersRCV000778090 RCV003222126 RCV003509605 RCV004796303 RCV006274022

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

SNV
Germline

Chr20:18530771

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA408361779

rs_1403456625

4 SubmittersRCV000779340 RCV001509050 RCV003768444

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
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA377486187

rs_786201041

6 SubmittersRCV000786804 RCV001220442 RCV003453623 RCV005470513

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

SNV
Germline

Chr10:87965285

Pathogenic/Likely pathogenic

Condition: not provided
Cowden syndrome 1
PTEN hamartoma tumor syndrome
Squamous cell lung carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA377487089

rs_1085308041

4 SubmittersRCV000786803 RCV003453622 RCV006249686 RCV005901913

NM_006218.4(PIK3CA):c.2667A>G (p.Ile889Met)

SNV
Germline

Chr3:179230004

Conflicting classifications of pathogenicity

Cowden syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA2711006

rs_17849078

2 SubmittersRCV000793688 RCV006367328

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

CA355286053

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

CA377482089

rs_786204927

3 SubmittersRCV000801387 RCV002440676 RCV003453667

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

SNV
Germline

Chr11:112087923

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA382617025

rs_1592778916

4 SubmittersRCV002535923 RCV004027515 RCV004569534 RCV004803220

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

SNV
Germline

Chr11:112088929

Conflicting classifications of pathogenicity

Pheochromocytoma
Pheochromocytoma/paraganglioma syndrome 1
Cowden syndrome 3
Carney-Stratakis syndrome
Hereditary cancer-predisposing syndrome
Inherited phaeochromocytoma and paraganglioma excluding NF1

Criteria Provided
Conflicting Classifications

CA382617278

rs_1592780479

3 SubmittersRCV000811684 RCV004028737 RCV005865396

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

SNV
Germline

Chr11:112088940

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA476790429

rs_575262156

3 SubmittersRCV000986021 RCV001015544 RCV002235584

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

SNV
Germline

Chr11:112089002

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA071040

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

CA9778176

rs_143417821

4 SubmittersRCV000794676 RCV001772048 RCV004692261

NM_006363.6(SEC23B):c.2129C>T (p.Thr710Met)

SNV
Germline

Chr20:18554371

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9778598

rs_752664090

3 SubmittersRCV000799127 RCV004789196

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

CA2711046

rs_760056670

2 SubmittersRCV000813809 RCV003437435

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

SNV
Germline

Chr11:112086961

Pathogenic

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

Criteria Provided
Single Submitter

CA382616778

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

CA377485403

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

Criteria Provided
Conflicting Classifications

CA382618845

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

CA9778397

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

CA312409086

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
Cervical cancer

Criteria Provided
Conflicting Classifications

CA9778405

rs_201943863

3 SubmittersRCV001138958 RCV002545986 RCV005903222

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

CA9778415

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

CA9778577

rs_202187007

4 SubmittersRCV000946264 RCV001141560 RCV004792585

NM_000314.8(PTEN):c.612A>G (p.Pro204=)

SNV
Germline

Chr10:87952237

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA060289

rs_539074063

5 SubmittersRCV000938112 RCV001024921 RCV004588374 RCV005423152

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

CA9778330

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

CA355278421

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

Criteria Provided
Conflicting Classifications

CA9778120

rs_146917730

6 SubmittersRCV001143287 RCV001516029 RCV001619877

NM_000314.8(PTEN):c.68T>G (p.Leu23Ter)

SNV
Germline

Chr10:87864537

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA377782025

rs_1589596407

3 SubmittersRCV001025787 RCV003509651 RCV005860175

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

SNV
Germline

Chr10:87894045

Pathogenic

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

Reviewed By Expert Panel

CA377784451

rs_1589617199

4 SubmittersRCV001016983 RCV002551798 RCV003316820

NM_000314.8(PTEN):c.255T>C (p.Val85=)

SNV
Germline

Chr10:87933014

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA470661179

rs_1589645952

4 SubmittersRCV001015932 RCV003769481 RCV005423780

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

SNV
Germline

Chr10:87933061

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA377482139

rs_1339631701

8 SubmittersRCV001018187 RCV001055467 RCV001547112 RCV003461368 RCV003152744 RCV003987762 RCV005049731

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
Condition: not provided

Criteria Provided
Conflicting Classifications

CA377482274

rs_1589646321

4 SubmittersRCV001020824 RCV001214316 RCV003455115 RCV006453517

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

CA377482284

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

CA377484279

rs_121909221

5 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

CA377484387

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

Criteria Provided
Conflicting Classifications

CA382617234

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

CA377481222

rs_1564828914

4 SubmittersRCV001014443 RCV001035561 RCV003455084 RCV004536049

NM_000314.8(PTEN):c.254-5C>T

SNV
Germline

Chr10:87933008

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA915947569

rs_1589645935

3 SubmittersRCV001015873 RCV002551785 RCV005423779

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

SNV
Germline

Chr10:87952117

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA377484219

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
Thymoma

Criteria Provided
Multiple Submitters
No Conflicts

CA377485407

rs_1257124719

4 SubmittersRCV001027078 RCV001385103 RCV003316824 RCV005912400

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

SNV
Germline

Chr11:112086960

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Paragangliomas with sensorineural hearing loss
Pheochromocytoma
Carney-Stratakis syndrome
Cowden syndrome 3
Inherited phaeochromocytoma and paraganglioma excluding NF1
Thyroid cancer, nonmedullary, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA382616773

rs_1592777386

4 SubmittersRCV001023716 RCV001873376 RCV005865450 RCV005912393

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

CA377482318

rs_121909218

3 SubmittersRCV001061416 RCV002355068 RCV003455279

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

SNV
Germline/somatic

Chr10:87933153

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA377482325

rs_1859977029

5 SubmittersRCV001062336 RCV001819787 RCV002274130 RCV003336301 RCV005232097

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

CA377484225

rs_786204863

2 SubmittersRCV001047166 RCV002471014

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

SNV
Germline

Chr11:112087895

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA382616974

rs_1865653068

4 SubmittersRCV002240532 RCV002374977 RCV003151276 RCV004000160

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

CA382617413

rs_786202403

2 SubmittersRCV002240202 RCV002445259

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

CA9778032

rs_140466726

4 SubmittersRCV001045553 RCV002553124 RCV003736965

NM_006363.6(SEC23B):c.1043A>G (p.Asp348Gly)

SNV
Germline

Chr20:18527545

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA408360479

rs_2060144762

2 SubmittersRCV001050924 RCV006249704

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

SNV
Germline

Chr11:112087847

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA228550972

rs_201350484

3 SubmittersRCV002240349 RCV004000090

NM_000314.8(PTEN):c.254-21G>C

SNV
Germline

Chr10:87932992

Likely pathogenic

Cowden syndrome 1
PTEN hamartoma tumor syndrome

Criteria Provided
Single Submitter

CA1139661578

rs_1859963198

2 SubmittersRCV001263191 RCV005367719

NM_003002.4(SDHD):c.174C>T (p.Gly58=)

SNV
Germline

Chr11:112088871

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA476790236

rs_1865684964

2 SubmittersRCV001106323 RCV005225233

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

SNV
Germline

Chr20:18542304

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA312406495

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

Criteria Provided
Conflicting Classifications

CA9778290

rs_187699090

3 SubmittersRCV001136711 RCV004694842 RCV003769645

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

SNV
Germline

Chr10:87960980

Pathogenic/Likely pathogenic

Cowden syndrome
Cowden syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA377485733

rs_1589665853

3 SubmittersRCV001174696 RCV003449567 RCV002375053

NM_000314.8(PTEN):c.1074G>A (p.Glu358=)

SNV
Germline

Chr10:87965334

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA470671028

rs_876659464

6 SubmittersRCV001190841 RCV001450402 RCV005428127 RCV006258429

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

SNV
Germline

Chr20:18525814

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9778116

rs_761034212

3 SubmittersRCV001199101 RCV002559272

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

SNV
Germline/somatic

Chr10:87952134

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA377484274

rs_876660507

4 SubmittersRCV001223749 RCV003449708 RCV005232189 RCV006258462

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

SNV
Germline

Chr11:112089002

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA382617414

rs_104894302

2 SubmittersRCV002241296 RCV005268977

NM_001382430.1(AKT1):c.1234G>A (p.Val412Met)

SNV
Germline

Chr14:104772391

Conflicting classifications of pathogenicity

Cowden syndrome 6
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA391216165

rs_1444891733

3 SubmittersRCV001222243 RCV002375207 RCV006266642

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

SNV
Germline

Chr10:87931048

Pathogenic

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

Reviewed By Expert Panel

CA377481238

rs_1554897856

7 SubmittersRCV001812250 RCV005712377 RCV003449650 RCV004796372 RCV001205381

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

CA377784608

rs_1554893835

3 SubmittersRCV001201578 RCV002402569 RCV003449641

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

SNV
Germline

Chr11:112087943

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA382617069

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

Criteria Provided
Conflicting Classifications

CA382617018

rs_199901239

2 SubmittersRCV002241639 RCV002451612

NM_003002.4(SDHD):c.231G>A (p.Leu77=)

SNV
Germline

Chr11:112088928

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA476790401

rs_1187106228

2 SubmittersRCV002241794 RCV006287376

NM_006363.6(SEC23B):c.2008C>T (p.Arg670Cys)

SNV
Germline

Chr20:18554250

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9778573

rs_752037101

3 SubmittersRCV001241508 RCV004034681 RCV006279493

NM_003002.4(SDHD):c.169+5G>C

SNV
Germline

Chr11:112087978

Likely pathogenic

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

Criteria Provided
Single Submitter

CA1139662327

rs_1865657237

1 SubmittersRCV002241352

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
Condition: not provided
Neoplasm

Criteria Provided
Multiple Submitters
No Conflicts

CA377482069

rs_1859965098

5 SubmittersRCV001255368 RCV001253477 RCV003509660 RCV006453611 RCV004671304

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

SNV
Germline

Chr10:87894048

Likely pathogenic

Cowden syndrome 1

Criteria Provided
Single Submitter

CA377784459

rs_876659443

1 SubmittersRCV001254105

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

SNV
Germline/somatic

Chr10:87864506

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA377781904

rs_1554890348

5 SubmittersRCV001269396 RCV002465860 RCV005262348 RCV005623409 RCV006274174

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

CA377484338

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

CA377485512

rs_1860618095

2 SubmittersRCV001269399 RCV003619741

NM_000314.8(PTEN):c.582G>A (p.Leu194=)

SNV
Germline

Chr10:87952207

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA470667707

rs_1860422594

3 SubmittersRCV001284057 RCV005428160 RCV006424754

NM_000314.8(PTEN):c.825A>G (p.Val275=)

SNV
Unknown

Chr10:87960917

Conflicting classifications of pathogenicity

Condition: not provided
Cowden syndrome 1

Criteria Provided
Conflicting Classifications

CA470973912

rs_1860617849

2 SubmittersRCV001284221 RCV005423957

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

CA2710984

rs_780492649

5 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

CA267348837

rs_889505130

2 SubmittersRCV001295011 RCV003166637

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

CA377482087

rs_779530981

2 SubmittersRCV001347115 RCV003449974

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

SNV
Germline

Chr10:87961051

Likely pathogenic

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

Reviewed By Expert Panel

CA377485996

rs_1114167667

6 SubmittersRCV001347116 RCV001586139 RCV002377474 RCV003449975

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

CA9778005

rs_372784283

3 SubmittersRCV001351710 RCV004692620

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

SNV
Germline/somatic

Chr3:179230348

Pathogenic/Likely pathogenic

Cowden syndrome
Condition: not provided
Neoplasm

Criteria Provided
Multiple Submitters
No Conflicts

CA355282001

rs_2108425281

3 SubmittersRCV001366657 RCV002255184 RCV006274210

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
PTEN hamartoma tumor syndrome
Cowden syndrome

Criteria Provided
Conflicting Classifications

CA377484996

rs_1554825226

3 SubmittersRCV001374613 RCV001762656 RCV003223419

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

SNV
Germline

Chr10:87933135

Pathogenic

PTEN hamartoma tumor syndrome
Cowden syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA377482298

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

CA377484221

rs_587782603

4 SubmittersRCV001378791 RCV003450047 RCV004779114

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

SNV
Germline

Chr11:112087856

Likely pathogenic

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

Criteria Provided
Single Submitter

CA382616904

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

CA377785017

rs_1564826779

2 SubmittersRCV001381909 RCV003992512

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

SNV
Germline

Chr10:87931086

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA377481406

rs_1554897880

3 SubmittersRCV001389652 RCV003451686 RCV004037705

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

SNV
Germline

Chr11:112094895

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA476790956

rs_1555187606

4 SubmittersRCV002236314 RCV004804170 RCV005722455 RCV004590438

NM_000314.8(PTEN):c.253+7A>G

SNV
Germline

Chr10:87931096

Conflicting classifications of pathogenicity

PTEN hamartoma tumor syndrome
Breast and/or ovarian cancer
Cowden syndrome 1

Criteria Provided
Conflicting Classifications

CA2499220455

rs_2132239067

3 SubmittersRCV001469121 RCV003150435 RCV005428339

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

SNV
Germline

Chr14:104775803

Conflicting classifications of pathogenicity

Cowden syndrome 6

Criteria Provided
Conflicting Classifications

CA7374821

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

CA9778649

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
Hereditary cancer-predisposing syndrome
Cowden syndrome 1

Criteria Provided
Conflicting Classifications

CA377784371

rs_1355570425

5 SubmittersRCV001553520 RCV003771693 RCV004945693 RCV004762159

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

CA377482303

rs_587781255

2 SubmittersRCV001558159 RCV003451811

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

SNV
Germline

Chr10:87933252

Pathogenic/Likely pathogenic

Condition: not provided
PTEN hamartoma tumor syndrome
Hereditary cancer-predisposing syndrome
Cowden syndrome
Cowden syndrome 1
Uterine corpus endometrial carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA377482838

rs_1554898242

8 SubmittersRCV001585039 RCV001882705 RCV002343756 RCV002241380 RCV003451820 RCV005919142

NM_000314.8(PTEN):c.424C>A (p.Arg142=)

SNV
Germline

Chr10:87933183

Conflicting classifications of pathogenicity

Condition: not provided
PTEN hamartoma tumor syndrome
Cowden syndrome 1

Criteria Provided
Conflicting Classifications

CA470661901

rs_746152219

3 SubmittersRCV001581816 RCV003619746 RCV005428412

NM_000314.8(PTEN):c.956C>T (p.Thr319Ile)

SNV
Germline

Chr10:87961048

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA060840

rs_761350690

5 SubmittersRCV001758959 RCV002540657 RCV004785309 RCV005860253

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

SNV
Germline

Chr11:112086956

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA382616759

rs_1314133983

6 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

CA9778333

rs_780978419

7 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
Pheochromocytoma
Paragangliomas with sensorineural hearing loss
Carney-Stratakis syndrome

Criteria Provided
Conflicting Classifications

CA476789562

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

CA312389352

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

CA377484220

rs_786204862

3 SubmittersRCV001808854 RCV002334703 RCV003451954

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

SNV
Germline/somatic

Chr10:87894051

Likely pathogenic

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

Reviewed By Expert Panel

CA377784475

rs_786204854

6 SubmittersRCV001814732 RCV001885301 RCV002406896 RCV003316850 RCV005232670

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

SNV
Germline

Chr10:87933132

Pathogenic

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

Reviewed By Expert Panel

CA377482291

rs_1554898127

6 SubmittersRCV001817633 RCV002542697 RCV003451963 RCV004040997 RCV006269484

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

SNV
Germline

Chr20:18543110

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA9778417

rs_201921350

3 SubmittersRCV001894286 RCV005409040

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

SNV
Germline/somatic

Chr3:179234302

Likely pathogenic

Cowden syndrome
Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype

Criteria Provided
Single Submitter

CA355285853

rs_121913277

2 SubmittersRCV002043221 RCV006254319

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

SNV
Germline

Chr11:112087874

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA382616935

rs_775986509

3 SubmittersRCV002005249 RCV002361328 RCV006550790

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

CA377482108

rs_1554898074

3 SubmittersRCV001953843 RCV003453874

NM_000314.8(PTEN):c.165-9T>A

SNV
Germline

Chr10:87925504

Likely pathogenic

PTEN hamartoma tumor syndrome
Cowden syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA645553738

rs_878853934

2 SubmittersRCV001898373 RCV005401868

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

SNV
Germline

Chr10:87864512

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA377781929

rs_2132145750

4 SubmittersRCV001919652 RCV003452174 RCV005465611 RCV005924173

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

SNV
Germline

Chr11:112087974

Pathogenic

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

Criteria Provided
Single Submitter

CA382617140

rs_2135267557

1 SubmittersRCV001994720

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

SNV
Germline

Chr11:112094903

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA382619287

rs_1401695686

3 SubmittersRCV001990958 RCV003348710 RCV006550800

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

SNV
Germline

Chr11:112094807

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA382618729

rs_1555187574

2 SubmittersRCV001913139 RCV002324301

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

SNV
Germline

Chr10:87864540

Pathogenic/Likely pathogenic

PTEN hamartoma tumor syndrome
Cowden syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA377782034

rs_797044910

3 SubmittersRCV002043319 RCV004046709

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

SNV
Germline

Chr11:112087974

Pathogenic

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

Criteria Provided
Single Submitter

CA382617138

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

CA9778590

rs_201270568

6 SubmittersRCV002020875 RCV002222748 RCV003130680

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

SNV
Germline

Chr10:87894088

Pathogenic

PTEN hamartoma tumor syndrome
Cowden syndrome 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA377784563

rs_1859098783

3 SubmittersRCV001914799 RCV003234131 RCV005645318

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

SNV
Germline

Chr11:112094803

Likely pathogenic

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

Criteria Provided
Single Submitter

CA382618705

rs_2135277333

1 SubmittersRCV001998098

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

SNV
Germline

Chr11:112094940

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA071425

rs_201337439

4 SubmittersRCV002140034 RCV002337361 RCV005424801 RCV004763335

NM_000314.8(PTEN):c.102T>A (p.Ala34=)

SNV
Germline

Chr10:87894047

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA470879009

rs_1472278114

3 SubmittersRCV002172615 RCV005465708 RCV005421101

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

SNV
Germline

Chr11:112088847

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA2573146856

rs_2135269091

3 SubmittersRCV002082844 RCV004017892 RCV005421089

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

SNV
Germline

Chr10:87864471

Pathogenic

Cowden syndrome 1

Criteria Provided
Single Submitter

CA377781758

rs_1858394001

1 SubmittersRCV002250273

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

SNV
Germline

Chr10:87952124

Conflicting classifications of pathogenicity

Cowden syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA377484240

rs_1210737543

2 SubmittersRCV002250274 RCV005403197

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

CA9778023

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

CA267348062

rs_113777945

2 SubmittersRCV002246925 RCV003101349

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

SNV
Germline

Chr11:112088939

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA382617298

rs_80338844

2 SubmittersRCV002251308 RCV003774738

NM_006218.4(PIK3CA):c.3061T>C (p.Tyr1021His)

SNV
Germline/somatic

Chr3:179234218

Pathogenic/Likely pathogenic

PIK3CA related overgrowth syndrome
Cowden syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA355285420

rs_2108429509

5 SubmittersRCV003157111 RCV005095870

NM_000314.8(PTEN):c.709A>T (p.Lys237Ter)

SNV
Germline

Chr10:87957927

Pathogenic

Hereditary cancer-predisposing syndrome
Cowden syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA377484899

rs_2132277045

2 SubmittersRCV002257172 RCV006633999

NM_000314.8(PTEN):c.-72C>T

SNV
Germline

Chr10:87864398

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Cowden syndrome 1

Criteria Provided
Conflicting Classifications

CA669541792

rs_1329461088

2 SubmittersRCV002257290 RCV005254043

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
Congenital dyserythropoietic anemia, type II
Cowden syndrome 7

Criteria Provided
Conflicting Classifications

CA312389151

rs_905074313

8 SubmittersRCV002276098 RCV003101567 RCV004785559 RCV006554651

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

CA88556623

rs_200018596

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

CA377482383

rs_863224666

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

CA377481310

rs_1554897866

2 SubmittersRCV002306033 RCV003454095

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

SNV
Germline

Chr10:87933131

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA377482288

rs_1554898126

3 SubmittersRCV002353055 RCV003483887 RCV003454133

NM_000314.8(PTEN):c.407G>T (p.Cys136Phe)

SNV
Germline

Chr10:87933166

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Cowden syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA377482350

rs_786204859

2 SubmittersRCV002323108 RCV005421258

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

CA2710582

rs_778573303

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

CA377484835

rs_1057520900

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

CA7374436

rs_748603087

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
PTEN hamartoma tumor syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA377486135

rs_786201816

3 SubmittersRCV002457764 RCV003455465 RCV005098100

NM_003002.4(SDHD):c.10C>G (p.Leu4Val)

SNV
Germline

Chr11:112086917

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA382616632

rs_1032016970

2 SubmittersRCV002430843 RCV005227760

NM_000314.8(PTEN):c.210-12C>G

SNV
Germline

Chr10:87931034

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA2580082218

rs_766570103

3 SubmittersRCV002424228 RCV004007396 RCV005042830

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

CA9778086

rs_201418257

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

CA547862539

rs_1170069201

2 SubmittersRCV003050868 RCV003134599

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

SNV
Germline

Chr10:87952165

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA377484380

rs_786202733

3 SubmittersRCV003037350 RCV003455671 RCV005714900

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

CA377485603

rs_1564568265

2 SubmittersRCV003058261 RCV003455672

NM_006363.6(SEC23B):c.1580T>C (p.Leu527Ser)

SNV
Germline

Chr20:18543087

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA408364086

rs_2060303450

2 SubmittersRCV003074821 RCV006274391

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

SNV
Germline

Chr11:112086922

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA382616649

rs_2135264652

2 SubmittersRCV002601701 RCV005058919

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

CA408357335

rs_2517457847

1 SubmittersRCV002862093

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

SNV
Germline

Chr11:112094803

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA382618706

rs_2135277333

2 SubmittersRCV002863222 RCV003475442

NM_006363.6(SEC23B):c.1753C>T (p.His585Tyr)

SNV
Germline

Chr20:18548618

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9778491

rs_150733820

2 SubmittersRCV002885658 RCV005636627

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

SNV
Germline

Chr11:112087850

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA671745566

rs_1370020365

2 SubmittersRCV002933644 RCV004999836

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

SNV
Germline

Chr11:112088961

Pathogenic

Paragangliomas with sensorineural hearing loss
Carney-Stratakis syndrome
Pheochromocytoma
Cowden syndrome 3
Pheochromocytoma/paraganglioma syndrome 1

Criteria Provided
Single Submitter

CA382617339

rs_761615413

2 SubmittersRCV002994598 RCV005863775

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

SNV
Germline

Chr11:112094871

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA382619102

rs_2498917467

3 SubmittersRCV003008997 RCV003170827 RCV004999848

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

SNV
Germline

Chr11:112087855

Likely pathogenic

Pheochromocytoma
Cowden syndrome 3
Carney-Stratakis syndrome
Paragangliomas with sensorineural hearing loss
Clear cell carcinoma of kidney

Criteria Provided
Single Submitter

CA071490

rs_778969755

2 SubmittersRCV003005720 RCV005926755

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

CA377484860

rs_1554825186

3 SubmittersRCV003052340 RCV003455670

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

SNV
Germline

Chr11:112088895

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA382617209

rs_2135269244

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
Melanoma

Criteria Provided
Conflicting Classifications

CA9777948

rs_200152499

5 SubmittersRCV003136547 RCV003778787 RCV005927070

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

CA377482285

rs_876660535

3 SubmittersRCV003165129 RCV003455770 RCV003459790

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

SNV
Germline/somatic

Chr10:87933091

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA377482205

rs_2132242679

6 SubmittersRCV003165130 RCV003328128 RCV003455771 RCV003330114 RCV006274411

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

SNV
Germline

Chr11:112087929

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA382617036

rs_2498900089

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

CA377484807

rs_1554825174

2 SubmittersRCV003319146 RCV004763647

NM_000314.8(PTEN):c.254-20A>G

SNV
Germline

Chr10:87932993

Conflicting classifications of pathogenicity

Cowden syndrome 1

Criteria Provided
Conflicting Classifications

CA2565916441

rs_1045014545

2 SubmittersRCV003325277

NM_000314.8(PTEN):c.313T>C (p.Cys105Arg)

SNV
Germline

Chr10:87933072

Likely pathogenic

Macrocephaly-autism syndrome
Cowden syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA377482162

rs_1303165645

2 SubmittersRCV003397226 RCV006634026

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

SNV
Germline/somatic

Chr10:87957873

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA377484795

rs_1554825168

4 SubmittersRCV003455815 RCV003509818 RCV004531535 RCV004673881

NM_003002.4(SDHD):c.197G>A (p.Trp66Ter)

SNV
Germline

Chr11:112088894

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA382617205

rs_2498904623

2 SubmittersRCV003443521 RCV005220713

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

SNV
Unknown

Chr10:87961120

Likely pathogenic

Cowden syndrome 1

Criteria Provided
Single Submitter

CA377486190

rs_1114167624

1 SubmittersRCV003450510

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

SNV
Unknown

Chr10:87961120

Likely pathogenic

Cowden syndrome 1

Criteria Provided
Single Submitter

CA377486188

rs_1114167624

1 SubmittersRCV003450518

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

SNV
Germline

Chr10:87965286

Likely pathogenic

Cowden syndrome 1
Hereditary cancer-predisposing syndrome
Uterine corpus endometrial carcinoma
Cervical cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA377487090

rs_1057517809

3 SubmittersRCV003450531 RCV005705171 RCV005927707 RCV005927706

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

SNV
Unknown

Chr10:87960963

Pathogenic

Cowden syndrome 1

Criteria Provided
Single Submitter

CA377485670

rs_2132282249

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

CA377485405

rs_1257124719

2 SubmittersRCV003450537 RCV003619847

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

SNV
Unknown

Chr10:87961116

Pathogenic

Cowden syndrome 1

Criteria Provided
Single Submitter

CA377486174

rs_1554825655

1 SubmittersRCV003450543

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

SNV
Germline

Chr10:87864471

Pathogenic/Likely pathogenic

Cowden syndrome 1
Hereditary cancer-predisposing syndrome
Syndromic microphthalmia

Criteria Provided
Multiple Submitters
No Conflicts

CA377781760

rs_1858394001

3 SubmittersRCV003452475 RCV006425066 RCV006605400

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

SNV
Unknown

Chr10:87933136

Likely pathogenic

Cowden syndrome 1

Criteria Provided
Single Submitter

CA377482300

rs_1114167656

1 SubmittersRCV003452476

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

SNV
Unknown

Chr10:87933138

Likely pathogenic

Cowden syndrome 1

Criteria Provided
Single Submitter

CA377482304

rs_587781255

1 SubmittersRCV003452479

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

SNV
Unknown

Chr10:87933121

Likely pathogenic

Cowden syndrome 1

Criteria Provided
Single Submitter

CA377482270

rs_121909237

1 SubmittersRCV003452480

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

SNV
Germline

Chr10:87933094

Pathogenic

Cowden syndrome 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA377482214

rs_121909230

2 SubmittersRCV003452499 RCV005414697

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

SNV
Germline

Chr10:87933023

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA377482059

rs_1554898056

3 SubmittersRCV003452504 RCV005264417 RCV006561671

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

SNV
Unknown

Chr10:87933030

Pathogenic

Cowden syndrome 1

Criteria Provided
Single Submitter

CA377482075

rs_1554898062

1 SubmittersRCV003452508

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

SNV
Unknown

Chr10:87894111

Pathogenic

Cowden syndrome 1

Criteria Provided
Single Submitter

CA377784610

rs_1337554479

1 SubmittersRCV003452512

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

SNV
Unknown

Chr10:87864500

Pathogenic

Cowden syndrome 1

Criteria Provided
Single Submitter

CA377781878

rs_1858395868

1 SubmittersRCV003452518

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

SNV
Somatic

Chr10:87933099

Pathogenic

Cowden syndrome 1
Neoplasm

Criteria Provided
Single Submitter

CA377482222

rs_2132242751

2 SubmittersRCV003452532 RCV005230511

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

SNV
Unknown

Chr10:87957942

Pathogenic

Cowden syndrome 1

Criteria Provided
Single Submitter

CA377484939

rs_1554825210

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

CA377482833

rs_1554898237

2 SubmittersRCV003452543 RCV004943047

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

SNV
Unknown

Chr10:87957904

Pathogenic

Cowden syndrome 1

Criteria Provided
Single Submitter

CA377484856

rs_1214965807

1 SubmittersRCV003452557

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

SNV
Unknown

Chr10:87933178

Pathogenic

Cowden syndrome 1

Criteria Provided
Single Submitter

CA377482375

rs_2132243523

1 SubmittersRCV003452564

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

SNV
Unknown

Chr10:87894066

Pathogenic

Cowden syndrome 1

Criteria Provided
Single Submitter

CA377784516

rs_1554893804

1 SubmittersRCV003452568

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

SNV
Unknown

Chr10:87957938

Pathogenic

Cowden syndrome 1

Criteria Provided
Single Submitter

CA377484929

rs_190070312

1 SubmittersRCV003452570

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

SNV
Unknown

Chr10:87894026

Pathogenic

Cowden syndrome 1

Criteria Provided
Single Submitter

CA377784360

rs_2132187062

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

CA9778050

rs_765842157

2 SubmittersRCV003491455 RCV003779256

NM_000314.8(PTEN):c.254-18G>T

SNV
Germline

Chr10:87932995

Conflicting classifications of pathogenicity

PTEN hamartoma tumor syndrome
Cowden syndrome 1

Criteria Provided
Conflicting Classifications

CA2722441732

rs_2132241893

2 SubmittersRCV003619315 RCV005422399

NM_000314.8(PTEN):c.581T>A (p.Leu194Ter)

SNV
Germline

Chr10:87952206

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA377484512

rs_1554900622

3 SubmittersRCV003619470 RCV006428103 RCV006634041

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

CA312396291

rs_111758941

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

CA408355944

rs_2517451331

1 SubmittersRCV003785574

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

SNV
Germline

Chr20:18524634

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA312395592

rs_541860697

3 SubmittersRCV003783740 RCV004798059 RCV005242433

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

SNV
Germline

Chr20:18526476

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA408360236

rs_750888081

5 SubmittersRCV003783741 RCV005433464 RCV005230567

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

SNV
Germline

Chr20:18526491

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA312396298

rs_953079477

2 SubmittersRCV003783742 RCV005240924

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

SNV
Germline

Chr20:18543096

Likely pathogenic

Congenital dyserythropoietic anemia, type II
Cowden syndrome 7

Criteria Provided
Single Submitter

CA9778414

rs_368545054

1 SubmittersRCV003783744

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

SNV
Germline

Chr20:18555111

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA9778621

rs_751349881

3 SubmittersRCV003783746 RCV005871310 RCV005230568

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

SNV
Germline

Chr20:18546031

Pathogenic

Congenital dyserythropoietic anemia, type II
Cowden syndrome 7
Cervical cancer

Criteria Provided
Single Submitter

CA408364435

rs_2517508341

2 SubmittersRCV003798019 RCV005934906

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

CA408363482

rs_2517489991

1 SubmittersRCV003782914

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

SNV
Germline

Chr20:18527517

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA9778201

rs_368960604

2 SubmittersRCV003780932 RCV005637048

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

SNV
Germline

Chr11:112086909

Pathogenic

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

Criteria Provided
Single Submitter

CA382616601

rs_2498895308

1 SubmittersRCV003783589

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

SNV
Germline

Chr11:112088902

Pathogenic

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

Criteria Provided
Single Submitter

CA382617225

rs_202198133

1 SubmittersRCV003781386

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

SNV
Germline

Chr20:18525860

Pathogenic/Likely pathogenic

Congenital dyserythropoietic anemia, type II
Cowden syndrome 7

Criteria Provided
Multiple Submitters
No Conflicts

CA408359868

rs_2517473808

2 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

CA9777968

rs_150263014

1 SubmittersRCV003780267

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

SNV
Germline

Chr20:18526371

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA9778152

rs_371646735

3 SubmittersRCV003787891 RCV005240919

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

SNV
Germline

Chr20:18525021

Pathogenic

Congenital dyserythropoietic anemia, type II
Cowden syndrome 7
Thyroid cancer, nonmedullary, 1

Criteria Provided
Single Submitter

CA9778093

rs_398124226

2 SubmittersRCV003788065 RCV005934883

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

SNV
Germline

Chr20:18512283

Likely pathogenic

Congenital dyserythropoietic anemia, type II
Cowden syndrome 7

Criteria Provided
Single Submitter

CA408356206

rs_1455991766

1 SubmittersRCV003793972

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

SNV
Germline

Chr20:18555171

Pathogenic

Congenital dyserythropoietic anemia, type II
Cowden syndrome 7

Criteria Provided
Single Submitter

CA408366792

rs_2517523659

1 SubmittersRCV003794662

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

SNV
Germline

Chr20:18524432

Likely pathogenic

Congenital dyserythropoietic anemia, type II
Cowden syndrome 7

Criteria Provided
Single Submitter

CA408357775

rs_1380097145

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

CA408356128

rs_1413836890

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

CA408358722

rs_2517471083

1 SubmittersRCV003805918

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

SNV
Germline

Chr11:112087936

Pathogenic

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

Criteria Provided
Single Submitter

CA382617054

rs_2498900134

1 SubmittersRCV003804227

NM_006363.6(SEC23B):c.2202T>C (p.Tyr734=)

SNV
Germline

Chr20:18555161

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA509834574

rs_1600281886

2 SubmittersRCV003797675 RCV005637066

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

SNV
Germline

Chr20:18525021

Pathogenic

Congenital dyserythropoietic anemia, type II
Cowden syndrome 7

Criteria Provided
Single Submitter

CA408358997

rs_398124226

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

CA408362930

rs_2517485892

1 SubmittersRCV003800648

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

SNV
Germline

Chr20:18555161

Pathogenic

Congenital dyserythropoietic anemia, type II
Cowden syndrome 7

Criteria Provided
Single Submitter

CA408366770

rs_1600281886

1 SubmittersRCV003808831

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

SNV
Germline

Chr20:18527612

Likely pathogenic

Congenital dyserythropoietic anemia, type II
Cowden syndrome 7

Criteria Provided
Single Submitter

CA408360632

rs_772358387

1 SubmittersRCV003802284

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

SNV
Germline

Chr20:18543167

Pathogenic

Congenital dyserythropoietic anemia, type II
Cowden syndrome 7

Criteria Provided
Single Submitter

CA9778438

rs_778016282

1 SubmittersRCV003809999

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

SNV
Germline

Chr11:112088865

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA382617145

rs_2498904353

2 SubmittersRCV003807334 RCV004950702

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

SNV
Germline

Chr20:18548771

Likely pathogenic

Congenital dyserythropoietic anemia, type II
Cowden syndrome 7

Criteria Provided
Single Submitter

CA312410723

rs_113410788

1 SubmittersRCV003818120

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

SNV
Unknown

Chr10:87864470

Likely pathogenic

Cowden syndrome 1

Criteria Provided
Single Submitter

CA377781753

rs_1554890324

1 SubmittersRCV004442426

NM_003002.4(SDHD):c.28G>C (p.Val10Leu)

SNV
Germline

Chr11:112086935

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA382616689

rs_1555186671

2 SubmittersRCV004508395 RCV006564833

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

SNV
Germline

Chr10:87965476

Conflicting classifications of pathogenicity

Condition: not provided
Cowden syndrome 1

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004762909 RCV005422510

NM_006363.6(SEC23B):c.994-1G>T

SNV
Germline

Chr20:18527495

Likely pathogenic

Cowden syndrome 7

Criteria Provided
Single Submitter

1 SubmittersRCV004764382

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

SNV
Germline

Chr10:87957982

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV004797022

NM_006363.6(SEC23B):c.454C>T (p.Gln152Ter)

SNV
Germline

Chr20:18524520

Likely pathogenic

Congenital dyserythropoietic anemia, type II
Cowden syndrome 7

Criteria Provided
Single Submitter

1 SubmittersRCV005026860

NM_006363.6(SEC23B):c.664C>T (p.Gln222Ter)

SNV
Germline

Chr20:18524995

Likely pathogenic

Congenital dyserythropoietic anemia, type II
Cowden syndrome 7

Criteria Provided
Single Submitter

1 SubmittersRCV005026861

NM_000314.8(PTEN):c.1038C>G (p.Tyr346Ter)

SNV
Germline

Chr10:87965298

Conflicting classifications of pathogenicity

PTEN hamartoma tumor syndrome
Cowden syndrome 1

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005207682 RCV005867318

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

SNV
Germline

Chr11:112087899

Pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005221248

NM_006363.6(SEC23B):c.1512-2A>T

SNV
Germline

Chr20:18543017

Likely pathogenic

Congenital dyserythropoietic anemia, type II
Cowden syndrome 7

Criteria Provided
Single Submitter

1 SubmittersRCV005218497

NM_003002.4(SDHD):c.169+5G>T

SNV
Germline

Chr11:112087978

Pathogenic

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

Criteria Provided
Single Submitter

2 SubmittersRCV005224406 RCV005939540

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

SNV
Germline

Chr11:112086960

Pathogenic

Pheochromocytoma
Carney-Stratakis syndrome
Paragangliomas with sensorineural hearing loss
Cowden syndrome 3
Pheochromocytoma/paraganglioma syndrome 1
Thyroid cancer, nonmedullary, 1

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV005220427 RCV005621339 RCV005939534

NM_006363.6(SEC23B):c.1859T>C (p.Met620Thr)

SNV
Germline

Chr20:18548724

Conflicting classifications of pathogenicity

not specified
Congenital dyserythropoietic anemia, type II
Cowden syndrome 7

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005238266 RCV006567144

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

SNV
Germline

Chr10:87965474