Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_007217.4(PDCD10):c.385C>T (p.Gln129Ter)	SNV Germline	Chr3:167695606	Pathogenic	Cerebral cavernous malformation 3	No Assertion Criteria Provided	CA355154415	rs_1577329665	1 SubmittersRCV000001942
NM_007217.4(PDCD10):c.475-1G>A	SNV Germline	Chr3:167687317	Pathogenic	Cerebral cavernous malformation 3	Criteria Provided Single Submitter	CA355154181	rs_1577317859	2 SubmittersRCV000001946
NM_031443.4(CCM2):c.319C>T (p.Gln107Ter)	SNV Germline	Chr7:45064493	Pathogenic	Cerebral cavernous malformation 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA252392	rs_137852841	3 SubmittersRCV000002800 RCV000289897
NM_031443.4(CCM2):c.1A>G (p.Met1Val)	SNV Germline	Chr7:45000334	Pathogenic	Cerebral cavernous malformation 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA252397	rs_137852842	3 SubmittersRCV000002803 RCV000517211
NM_031443.4(CCM2):c.288+1G>A	SNV Germline	Chr7:45064002	Pathogenic	Cerebral cavernous malformation 2	No Assertion Criteria Provided	CA367429785	rs_1562906981	1 SubmittersRCV000002804
NM_031443.4(CCM2):c.593T>G (p.Leu198Arg)	SNV Germline	Chr7:45068563	Pathogenic	Cerebral cavernous malformation 2	No Assertion Criteria Provided	CA252400	rs_137852843	1 SubmittersRCV000002805
NM_194454.3(KRIT1):c.1879C>T (p.Gln627Ter)	SNV Germline	Chr7:92213341	Pathogenic	Cerebral cavernous malformation 1 Cerebral cavernous malformation	Criteria Provided Single Submitter	CA368140184	rs_2131309013	2 SubmittersRCV000006072 RCV002512817
NM_194454.3(KRIT1):c.1363C>T (p.Gln455Ter)	SNV Germline	Chr7:92222870	Pathogenic	Cerebral cavernous malformation 1 Cerebral cavernous malformation Condition: not provided KRIT1-related disorder Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA253579	rs_267607203	13 SubmittersRCV000006075 RCV000239441 RCV000256079 RCV004547460 RCV006362015
NM_194454.3(KRIT1):c.845+2T>C	SNV Germline	Chr7:92234806	Pathogenic	Cerebral cavernous malformation 1 Cerebral cavernous malformation	No Assertion Criteria Provided	CA368158208	rs_1563302930	2 SubmittersRCV000006077 RCV003444193
NM_194454.3(KRIT1):c.410A>G (p.Asp137Gly)	SNV Germline	Chr7:92236488	Likely pathogenic	Cerebral cavernous malformation 1 Cerebral cavernous malformation	Criteria Provided Multiple Submitters No Conflicts	CA253586	rs_137853139	3 SubmittersRCV000006079 RCV001822994
NM_194454.3(KRIT1):c.601C>G (p.Gln201Glu)	SNV Germline	Chr7:92235531	Pathogenic	Cerebral cavernous malformation 1 Condition: not provided Cerebral cavernous malformation	Criteria Provided Multiple Submitters No Conflicts	CA253589	rs_137853140	3 SubmittersRCV000006080 RCV000522732 RCV003522917
NM_194454.3(KRIT1):c.987C>A (p.Cys329Ter)	SNV Germline	Chr7:92234451	Pathogenic	Cerebral cavernous malformation 1 Cerebral cavernous malformation	No Assertion Criteria Provided	CA253592	rs_267607204	2 SubmittersRCV000006082 RCV000239438
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg)	SNV Germline/somatic	Chr3:179234297	Pathogenic	Carcinoma of colon Hepatocellular carcinoma Non-small cell lung carcinoma Seborrheic keratosis Breast adenocarcinoma OVARIAN CANCER, EPITHELIAL, SOMATIC CLOVES syndrome Ovarian neoplasm PIK3CA related overgrowth syndrome Neoplasm Rosette-forming glioneuronal tumor MACRODACTYLY, SOMATIC Condition: not provided Lip and oral cavity carcinoma Abnormal cardiovascular system morphology CEREBRAL CAVERNOUS MALFORMATIONS 4, SOMATIC CLAPO syndrome Cerebrofacial Vascular Metameric Syndrome (CVMS) Megalencephaly-capillary malformation-polymicrogyria syndrome Congenital macrodactylia Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes Segmental undergrowth associated with mainly venous malformation with capillary component Segmental undergrowth associated with lymphatic malformation Gastric cancer Breast carcinoma Klippel-Trenaunay-like-Syndrome Rare venous malformation PIK3CA-related disorder Rare combined vascular malformation PIK3CA-Related Overgrowth Spectrum Disorders Nasopharyngeal carcinoma Diffuse midline glioma, H3 K27M-mutant Cervical squamous cell carcinoma Diffuse glioma, H3 G34 mutant Glioma Neuroblastoma Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype Colorectal cancer Adenoid cystic carcinoma Cavernous lymphangioma Embryonal rhabdomyosarcoma	Reviewed By Expert Panel	CA123326	rs_121913279	33 SubmittersRCV000014624 RCV000014626 RCV000014627 RCV000014628 RCV000014622 RCV000014623 RCV000024621 RCV000154516 RCV000201231 RCV000438435 RCV000487449 RCV000709691 RCV001092442 RCV001255686 RCV001327968 RCV001728091 RCV001729349 RCV001730472 RCV001807727 RCV001526648 RCV001836707 RCV001705589 RCV001705590 RCV002508124 RCV003128082 RCV003325939 RCV004527290 RCV004737153 RCV004527291 RCV005051734 RCV006253556 RCV006253562 RCV006456613 RCV006253564 RCV006253557 RCV006253555 RCV006253561 RCV006253558 RCV006253559 RCV006253563 RCV006253560
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_006218.4(PIK3CA):c.1633G>A (p.Glu545Lys)	SNV Germline/somatic	Chr3:179218303	Pathogenic/Likely pathogenic	Carcinoma of colon Seborrheic keratosis Breast adenocarcinoma OVARIAN CANCER, EPITHELIAL, SOMATIC Non-small cell lung carcinoma Megalencephaly-capillary malformation-polymicrogyria syndrome Sarcoma Ovarian neoplasm Condition: not provided Abnormal cardiovascular system morphology CLOVES syndrome Cerebrofacial Vascular Metameric Syndrome (CVMS) PIK3CA related overgrowth syndrome Segmental undergrowth associated with lymphatic malformation Gallbladder cancer Eccrine angiomatous hamartoma Gastric cancer HEMIFACIAL MYOHYPERPLASIA, SOMATIC Angioosteohypertrophic syndrome Rare venous malformation Rare combined vascular malformation Neoplasm PIK3CA overgrowth syndrome PIK3CA-related disorder Medulloblastoma WNT activated IDH-wildtype glioblastoma Rosette-forming glioneuronal tumor Cervical squamous cell carcinoma Adenocarcinoma of the large intestine Embryonal rhabdomyosarcoma Lymphatic malformation Congenital fibrosarcoma Cerebral cavernous malformation	Criteria Provided Multiple Submitters No Conflicts	CA123334	rs_104886003	22 SubmittersRCV000014633 RCV000014636 RCV000014631 RCV000014632 RCV000038671 RCV000055930 RCV000119356 RCV000422210 RCV001092440 RCV001327963 RCV001262721 RCV001730473 RCV001290591 RCV001705591 RCV001374447 RCV001786329 RCV002508125 RCV003764575 RCV004527293 RCV004527294 RCV004527295 RCV004668729 RCV004698419 RCV005867755 RCV006253573 RCV006253575 RCV006253570 RCV006456614 RCV006253574 RCV006253571 RCV006253569 RCV006253572 RCV006253568
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_194454.3(KRIT1):c.1326C>G (p.Thr442=)	SNV Germline	Chr7:92222907	Conflicting classifications of pathogenicity	not specified Cerebral cavernous malformation Angiokeratoma corporis diffusum with arteriovenous fistulas Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4339137	rs_150912644	4 SubmittersRCV000248450 RCV000318995 RCV000378263 RCV002379094
NM_194454.3(KRIT1):c.1731-2A>G	SNV Germline	Chr7:92213981	Pathogenic	Condition: not provided Cerebral cavernous malformation	Criteria Provided Multiple Submitters No Conflicts	CA10588437	rs_886039571	2 SubmittersRCV000255059 RCV001808723
NM_194454.3(KRIT1):c.1267C>T (p.Arg423Ter)	SNV Germline	Chr7:92222966	Pathogenic	Condition: not provided Cerebral cavernous malformation KRIT1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA10588438	rs_886039402	9 SubmittersRCV000255480 RCV000552103 RCV004547646
NM_194454.3(KRIT1):c.1146+1G>A	SNV Germline	Chr7:92226525	Pathogenic	Condition: not provided Cerebral cavernous malformation	Criteria Provided Multiple Submitters No Conflicts	CA10588439	rs_886039401	3 SubmittersRCV000254945 RCV002518752
NM_194454.3(KRIT1):c.802C>T (p.Gln268Ter)	SNV Germline	Chr7:92234851	Pathogenic/Likely pathogenic	Condition: not provided Cerebral cavernous malformation	Criteria Provided Multiple Submitters No Conflicts	CA10588440	rs_886039659	2 SubmittersRCV000255382 RCV003144183
NM_031443.4(CCM2):c.214C>T (p.Gln72Ter)	SNV Germline	Chr7:45063927	Pathogenic	Condition: not provided Cerebral cavernous malformation 2	Criteria Provided Multiple Submitters No Conflicts	CA10602956	rs_886041157	2 SubmittersRCV000399152 RCV001855050
NM_194454.3(KRIT1):c.715C>T (p.Gln239Ter)	SNV Germline	Chr7:92235417	Pathogenic/Likely pathogenic	Cerebral cavernous malformation Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA10605352	rs_886043300	4 SubmittersRCV000392041 RCV000517670
NM_007217.4(PDCD10):c.574G>A (p.Val192Ile)	SNV Germline	Chr3:167684373	Conflicting classifications of pathogenicity	Cerebral cavernous malformation 3 PDCD10-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA2694506	rs_151267430	5 SubmittersRCV001406380 RCV003957779 RCV006445943
NM_194454.3(KRIT1):c.1139C>T (p.Thr380Met)	SNV Germline	Chr7:92226533	Conflicting classifications of pathogenicity	Cerebral cavernous malformation Angiokeratoma corporis diffusum with arteriovenous fistulas	Criteria Provided Conflicting Classifications	CA4339207	rs_533696377	1 SubmittersRCV000309247 RCV000368618
NM_194454.3(KRIT1):c.1063C>T (p.Leu355Phe)	SNV Germline	Chr7:92226609	Conflicting classifications of pathogenicity	Cerebral cavernous malformation Angiokeratoma corporis diffusum with arteriovenous fistulas Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA4339222	rs_182763805	4 SubmittersRCV000261141 RCV000369873 RCV005652368 RCV006277816
NM_194454.3(KRIT1):c.*132T>G	SNV Germline	Chr7:92200604	Conflicting classifications of pathogenicity	Angiokeratoma corporis diffusum with arteriovenous fistulas Cerebral cavernous malformation Condition: not provided KRIT1-related disorder	Criteria Provided Conflicting Classifications	CA10629615	rs_572414111	6 SubmittersRCV000304668 RCV000364001 RCV002275015 RCV004549821
NM_194454.3(KRIT1):c.302G>T (p.Gly101Val)	SNV Germline	Chr7:92237720	Conflicting classifications of pathogenicity	Angiokeratoma corporis diffusum with arteriovenous fistulas Cerebral cavernous malformation not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA4339419	rs_147568834	6 SubmittersRCV000265398 RCV000320476 RCV005434875 RCV006250285
NM_007217.4(PDCD10):c.103C>T (p.Arg35Ter)	SNV Germline	Chr3:167704889	Pathogenic	Condition: not provided Cerebral cavernous malformation 3 Cerebral cavernous malformation	Criteria Provided Multiple Submitters No Conflicts	CA16042486	rs_1057517786	7 SubmittersRCV000414133 RCV000813410 RCV001727711
NM_194454.3(KRIT1):c.486-2A>G	SNV Germline	Chr7:92235648	Pathogenic	Condition: not provided Cerebral cavernous malformation	Criteria Provided Multiple Submitters No Conflicts	CA16605155	rs_965713946	2 SubmittersRCV000422186 RCV002524828
NM_194454.3(KRIT1):c.301G>A (p.Gly101Arg)	SNV Germline	Chr7:92237721	Conflicting classifications of pathogenicity	Condition: not provided Cerebral cavernous malformation KRIT1-related disorder	Criteria Provided Conflicting Classifications	CA16605918	rs_1057521140	3 SubmittersRCV000427958 RCV002519528 RCV004551445
NM_194454.3(KRIT1):c.729+2T>C	SNV Germline	Chr7:92235401	Pathogenic	Cerebral cavernous malformation	Criteria Provided Single Submitter	CA368159247	rs_1554528541	1 SubmittersRCV000593246
NM_194454.3(KRIT1):c.1890G>A (p.Trp630Ter)	SNV Germline	Chr7:92213330	Pathogenic	not specified Cerebral cavernous malformation Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA368140091	rs_1554503009	3 SubmittersRCV000506594 RCV000547853 RCV005367359
NM_031443.4(CCM2):c.55C>T (p.Arg19Ter)	SNV Germline	Chr7:45038277	Pathogenic	Condition: not provided Cerebral cavernous malformation 2 CCM2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA4246869	rs_755800734	9 SubmittersRCV000517288 RCV000644584 RCV003389649
NM_194454.3(KRIT1):c.486-1G>A	SNV Germline	Chr7:92235647	Pathogenic	Condition: not provided Cerebral cavernous malformation	Criteria Provided Multiple Submitters No Conflicts	CA368161652	rs_1554529341	2 SubmittersRCV000518796 RCV005235372
NM_194454.3(KRIT1):c.1765A>T (p.Lys589Ter)	SNV Germline	Chr7:92213945	Pathogenic	Condition: not provided Cerebral cavernous malformation	Criteria Provided Multiple Submitters No Conflicts	CA368141307	rs_1554503702	2 SubmittersRCV000520371 RCV001857981
NM_007217.4(PDCD10):c.558-2A>C	SNV Germline	Chr3:167684391	Pathogenic	Cerebral cavernous malformation 3	Criteria Provided Single Submitter	CA355153966	rs_1553758385	1 SubmittersRCV000549105
NM_007217.4(PDCD10):c.474+5G>A	SNV Germline	Chr3:167687610	Pathogenic/Likely pathogenic	Cerebral cavernous malformation 3 Hemiparesis Cerebral arteriovenous malformation Seizure Cavernous hemangioma Condition: not provided Hereditary cavernous hemangioma of brain PDCD10-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA658657344	rs_1553759139	7 SubmittersRCV000560557 RCV000626904 RCV000721806 RCV003380616 RCV005429025
NM_007217.4(PDCD10):c.322C>T (p.Arg108Ter)	SNV Germline	Chr3:167695669	Pathogenic	Cerebral cavernous malformation 3 Condition: not provided PDCD10-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA355154555	rs_1553760900	3 SubmittersRCV000544337 RCV000578740 RCV003419967
NM_007217.4(PDCD10):c.301C>T (p.Gln101Ter)	SNV Germline	Chr3:167695690	Pathogenic	Cerebral cavernous malformation 3	Criteria Provided Single Submitter	CA355154601	rs_1303470125	1 SubmittersRCV000531663
NM_194454.3(KRIT1):c.1417C>T (p.Gln473Ter)	SNV Germline	Chr7:92222048	Pathogenic	Cerebral cavernous malformation	Criteria Provided Single Submitter	CA368146745	rs_1554513061	1 SubmittersRCV000558177
NM_031443.4(CCM2):c.31-2A>G	SNV Germline	Chr7:45038251	Likely pathogenic	Cerebral cavernous malformation 2	Criteria Provided Single Submitter	CA367426497	rs_1554365507	1 SubmittersRCV000550716
NM_194454.3(KRIT1):c.2143-1G>A	SNV Germline	Chr7:92200805	Pathogenic	Cerebral cavernous malformation	Criteria Provided Single Submitter	CA368166250	rs_1554489785	1 SubmittersRCV000559834
NM_194454.3(KRIT1):c.990G>A (p.Trp330Ter)	SNV Germline	Chr7:92226682	Pathogenic	Cerebral cavernous malformation	Criteria Provided Single Submitter	CA368153913	rs_1554518783	1 SubmittersRCV000526370
NM_194454.3(KRIT1):c.812G>A (p.Trp271Ter)	SNV Germline	Chr7:92234841	Pathogenic	Cerebral cavernous malformation	Criteria Provided Single Submitter	CA368158496	rs_1554527779	1 SubmittersRCV000542725
NM_194454.3(KRIT1):c.1A>G (p.Met1Val)	SNV Germline	Chr7:92242135	Pathogenic/Likely pathogenic	Cerebral cavernous malformation Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA368167328	rs_1554539120	5 SubmittersRCV000536000 RCV000578776
NM_194454.3(KRIT1):c.1201C>T (p.Gln401Ter)	SNV Germline	Chr7:92225773	Pathogenic	Cerebral cavernous malformation KRIT1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA368150819	rs_1331502949	2 SubmittersRCV000539490 RCV004553228
NM_194454.3(KRIT1):c.782C>G (p.Ser261Ter)	SNV Germline	Chr7:92234871	Pathogenic	Cerebral cavernous malformation	Criteria Provided Single Submitter	CA368158729	rs_1554527817	1 SubmittersRCV000525590
NM_194454.3(KRIT1):c.730-2A>G	SNV Germline	Chr7:92234925	Pathogenic	Cerebral cavernous malformation	Criteria Provided Single Submitter	CA368159113	rs_1554527925	1 SubmittersRCV000549458
NM_031443.4(CCM2):c.635T>C (p.Leu212Pro)	SNV Germline	Chr7:45069851	Likely pathogenic	Cerebral cavernous malformation 2	Criteria Provided Single Submitter	CA367430545	rs_1554377652	1 SubmittersRCV000550896
NM_194454.3(KRIT1):c.1412-1G>T	SNV Germline	Chr7:92222054	Pathogenic	Cerebral cavernous malformation	Criteria Provided Single Submitter	CA368146801	rs_1554513070	1 SubmittersRCV000545634
NM_194454.3(KRIT1):c.1400C>A (p.Ser467Ter)	SNV Germline	Chr7:92222833	Pathogenic/Likely pathogenic	Condition: not provided Cerebral cavernous malformation	Criteria Provided Multiple Submitters No Conflicts	CA368146961	rs_1554513911	3 SubmittersRCV000578785 RCV000798671
NM_194454.3(KRIT1):c.196C>T (p.Gln66Ter)	SNV Germline	Chr7:92241059	Pathogenic	Cerebral cavernous malformation Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA4339454	rs_771656368	5 SubmittersRCV000624959 RCV005601047
NM_194454.3(KRIT1):c.902C>G (p.Ser301Ter)	SNV Germline	Chr7:92234536	Pathogenic	Cavernous hemangioma Condition: not provided Cerebral cavernous malformation	Criteria Provided Multiple Submitters No Conflicts	CA368157899	rs_1554527169	4 SubmittersRCV000626868 RCV000721907 RCV001007911
NM_007217.4(PDCD10):c.510C>G (p.Tyr170Ter)	SNV Germline	Chr3:167687281	Pathogenic/Likely pathogenic	Cerebral cavernous malformation 3 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA355154090	rs_1553759059	2 SubmittersRCV000644583 RCV000721809
NM_194454.3(KRIT1):c.730-1G>C	SNV Germline	Chr7:92234924	Pathogenic/Likely pathogenic	Cerebral cavernous malformation Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA368159107	rs_1554527922	2 SubmittersRCV000644430 RCV000721898
NM_031443.4(CCM2):c.584T>G (p.Leu195Arg)	SNV Unknown	Chr7:45068554	Likely pathogenic	Cerebral cavernous malformation 2	No Assertion Criteria Provided	CA367430423	rs_1562912426	1 SubmittersRCV000681486
NM_194454.3(KRIT1):c.729+5G>C	SNV Germline	Chr7:92235398	Likely pathogenic	Cerebral cavernous malformation	Criteria Provided Single Submitter	CA891842819	rs_1468613071	1 SubmittersRCV000686360
NM_194454.3(KRIT1):c.2152G>A (p.Val718Met)	SNV Germline	Chr7:92200795	Conflicting classifications of pathogenicity	Cerebral cavernous malformation Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4338932	rs_140952803	2 SubmittersRCV000701994 RCV004026575
NM_194454.3(KRIT1):c.1730+3A>C	SNV Germline	Chr7:92214608	Pathogenic/Likely pathogenic	Cerebral cavernous malformation Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA891843212	rs_1563244629	5 SubmittersRCV000693414 RCV000721855
NM_007217.4(PDCD10):c.586C>T (p.Arg196Ter)	SNV Germline	Chr3:167684361	Pathogenic	Condition: not provided Cerebral cavernous malformation 3	Criteria Provided Multiple Submitters No Conflicts	CA355153900	rs_1404676956	4 SubmittersRCV000721812 RCV001236134
NM_007217.4(PDCD10):c.283C>T (p.Arg95Ter)	SNV Germline	Chr3:167695708	Pathogenic	Condition: not provided Cerebral cavernous malformation 3 PDCD10-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA355154642	rs_1357917630	5 SubmittersRCV000721801 RCV003141726 RCV004740429
NM_007217.4(PDCD10):c.269-1G>C	SNV Germline	Chr3:167695723	Likely pathogenic	Condition: not provided Cerebral cavernous malformation 3	Criteria Provided Single Submitter	CA355154680	rs_1559952467	2 SubmittersRCV000721799 RCV003227843
NM_031443.4(CCM2):c.30+1G>A	SNV Germline	Chr7:45000364	Pathogenic	Condition: not provided Cerebral cavernous malformation 2	Criteria Provided Multiple Submitters No Conflicts	CA367423703	rs_1562848479	5 SubmittersRCV000721780 RCV000791931
NM_031443.4(CCM2):c.169A>T (p.Arg57Ter)	SNV Germline	Chr7:45038391	Pathogenic/Likely pathogenic	Condition: not provided Cerebral cavernous malformation 2	Criteria Provided Multiple Submitters No Conflicts	CA367427221	rs_1562882049	3 SubmittersRCV000721773 RCV001049222
NM_031443.4(CCM2):c.289-1G>A	SNV Germline	Chr7:45064462	Pathogenic/Likely pathogenic	Condition: not provided Cerebral cavernous malformation 2	Criteria Provided Multiple Submitters No Conflicts	CA367429794	rs_1562907365	2 SubmittersRCV000721777 RCV001868914
NM_031443.4(CCM2):c.568G>A (p.Val190Met)	SNV Germline	Chr7:45068538	Conflicting classifications of pathogenicity	Condition: not provided Cerebral cavernous malformation 2	Criteria Provided Conflicting Classifications	CA4247031	rs_200358025	4 SubmittersRCV000721785 RCV002067077
NM_031443.4(CCM2):c.609G>A (p.Lys203=)	SNV Germline	Chr7:45068579	Pathogenic/Likely pathogenic	Condition: not provided Cerebral cavernous malformation 2	Criteria Provided Multiple Submitters No Conflicts	CA454888715	rs_1562912528	3 SubmittersRCV000721787 RCV003479207
NM_031443.4(CCM2):c.610-1G>A	SNV Germline	Chr7:45069825	Pathogenic	Cerebral cavernous malformation 2 Condition: not provided	Criteria Provided Single Submitter	CA367430486	rs_1562913873	2 SubmittersRCV000002801 RCV000721788
NM_194454.3(KRIT1):c.2092C>T (p.Gln698Ter)	SNV Germline	Chr7:92201357	Pathogenic	Condition: not provided Cerebral cavernous malformation	Criteria Provided Multiple Submitters No Conflicts	CA368166698	rs_1563211627	2 SubmittersRCV000721875 RCV001239359
NM_194454.3(KRIT1):c.2026-12A>G	SNV Germline	Chr7:92201435	Pathogenic/Likely pathogenic	Condition: not provided Cerebral cavernous malformation	Criteria Provided Multiple Submitters No Conflicts	CA161930216	rs_1041438637	3 SubmittersRCV000721872 RCV003523019
NM_194454.3(KRIT1):c.2025+2T>C	SNV Germline	Chr7:92213193	Pathogenic/Likely pathogenic	Condition: not provided Cerebral cavernous malformation	Criteria Provided Multiple Submitters No Conflicts	CA368138957	rs_1563239833	2 SubmittersRCV000721871 RCV005092118
NM_194454.3(KRIT1):c.1988A>G (p.Asn663Ser)	SNV Germline	Chr7:92213232	Conflicting classifications of pathogenicity	Condition: not provided not specified Cerebral cavernous malformation	Criteria Provided Conflicting Classifications	CA4338990	rs_202120786	5 SubmittersRCV000721868 RCV004782529 RCV005092117
NM_194454.3(KRIT1):c.1927C>T (p.Gln643Ter)	SNV Germline	Chr7:92213293	Pathogenic/Likely pathogenic	Condition: not provided Cerebral cavernous malformation	Criteria Provided Multiple Submitters No Conflicts	CA368139866	rs_1563240592	3 SubmittersRCV000721867 RCV002067078
NM_194454.3(KRIT1):c.1731-3C>A	SNV Germline	Chr7:92213982	Conflicting classifications of pathogenicity	Condition: not provided Cerebral cavernous malformation	Criteria Provided Conflicting Classifications	CA891862787	rs_1563243075	2 SubmittersRCV000721858 RCV005092115
NM_194454.3(KRIT1):c.1730+5G>A	SNV Germline	Chr7:92214606	Pathogenic	Condition: not provided Cerebral cavernous malformation	Criteria Provided Multiple Submitters No Conflicts	CA891862789	rs_1563244618	2 SubmittersRCV000721857 RCV003523018
NM_194454.3(KRIT1):c.1563+1G>A	SNV Germline	Chr7:92221901	Pathogenic	Condition: not provided Cerebral cavernous malformation	Criteria Provided Multiple Submitters No Conflicts	CA4339088	rs_549591728	3 SubmittersRCV000721848 RCV003523017
NM_194454.3(KRIT1):c.1513C>T (p.Gln505Ter)	SNV Germline	Chr7:92221952	Pathogenic	Condition: not provided Cerebral cavernous malformation	Criteria Provided Multiple Submitters No Conflicts	CA368145820	rs_1563263366	2 SubmittersRCV000721846 RCV001385873
NM_194454.3(KRIT1):c.1412-2A>C	SNV Germline	Chr7:92222055	Pathogenic	Condition: not provided Cerebral cavernous malformation	Criteria Provided Multiple Submitters No Conflicts	CA368146810	rs_1563264113	3 SubmittersRCV000721841 RCV001071022
NM_194454.3(KRIT1):c.1391G>A (p.Trp464Ter)	SNV Germline	Chr7:92222842	Pathogenic	Condition: not provided Cerebral cavernous malformation	Criteria Provided Multiple Submitters No Conflicts	CA368147021	rs_1563265959	2 SubmittersRCV000721837 RCV003523016
NM_194454.3(KRIT1):c.1372C>T (p.Gln458Ter)	SNV Germline	Chr7:92222861	Pathogenic/Likely pathogenic	Condition: not provided Cerebral cavernous malformation	Criteria Provided Multiple Submitters No Conflicts	CA368147158	rs_1563266163	3 SubmittersRCV000721836 RCV001862106
NM_194454.3(KRIT1):c.1255-1G>A	SNV Germline	Chr7:92222979	Pathogenic	Condition: not provided Cerebral cavernous malformation	Criteria Provided Multiple Submitters No Conflicts	CA368148498	rs_1563267100	2 SubmittersRCV000721828 RCV001385874
NM_194454.3(KRIT1):c.1147-13C>G	SNV Germline	Chr7:92225840	Pathogenic	Cerebral cavernous malformation KRIT1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA891862693	rs_779465895	2 SubmittersRCV001038518 RCV004547916
NM_194454.3(KRIT1):c.1114C>T (p.Gln372Ter)	SNV Germline	Chr7:92226558	Pathogenic/Likely pathogenic	Condition: not provided Cerebral cavernous malformation	Criteria Provided Multiple Submitters No Conflicts	CA368152502	rs_780114710	2 SubmittersRCV000721820 RCV003523015
NM_194454.3(KRIT1):c.880C>T (p.Arg294Ter)	SNV Germline	Chr7:92234558	Pathogenic	Condition: not provided Cerebral cavernous malformation	Criteria Provided Multiple Submitters No Conflicts	CA4339271	rs_764960797	4 SubmittersRCV000721906 RCV001862108
NM_194454.3(KRIT1):c.845+2T>A	SNV Germline	Chr7:92234806	Pathogenic/Likely pathogenic	Condition: not provided Cerebral cavernous malformation	Criteria Provided Multiple Submitters No Conflicts	CA368158210	rs_1563302930	2 SubmittersRCV000721903 RCV001241794
NM_194454.3(KRIT1):c.845+1G>A	SNV Germline	Chr7:92234807	Pathogenic	Condition: not provided Cerebral cavernous malformation	Criteria Provided Multiple Submitters No Conflicts	CA368158223	rs_1563302941	2 SubmittersRCV000721902 RCV001868916
NM_194454.3(KRIT1):c.730-1G>A	SNV Germline	Chr7:92234924	Pathogenic	Condition: not provided Cerebral cavernous malformation	Criteria Provided Multiple Submitters No Conflicts	CA368159110	rs_1554527922	2 SubmittersRCV000721897 RCV001380231
NM_194454.3(KRIT1):c.729+1G>A	SNV Germline	Chr7:92235402	Pathogenic/Likely pathogenic	Condition: not provided Cerebral cavernous malformation	Criteria Provided Multiple Submitters No Conflicts	CA368159257	rs_1563305064	4 SubmittersRCV000721896 RCV001211745
NM_194454.3(KRIT1):c.707C>G (p.Ser236Ter)	SNV Germline	Chr7:92235425	Pathogenic/Likely pathogenic	Condition: not provided Cerebral cavernous malformation	Criteria Provided Multiple Submitters No Conflicts	CA368159449	rs_1563305269	2 SubmittersRCV000721894 RCV006464102
NM_194454.3(KRIT1):c.589A>G (p.Thr197Ala)	SNV Germline	Chr7:92235543	Conflicting classifications of pathogenicity	Condition: not provided Cerebral cavernous malformation Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4339340	rs_140396626	5 SubmittersRCV000721890 RCV001862107 RCV002352236
NM_194454.3(KRIT1):c.418C>T (p.Arg140Ter)	SNV Germline	Chr7:92236480	Pathogenic	Condition: not provided Cerebral cavernous malformation	Criteria Provided Multiple Submitters No Conflicts	CA161911896	rs_866982998	4 SubmittersRCV000721885 RCV005092119
NM_194454.3(KRIT1):c.268C>T (p.Arg90Ter)	SNV Germline	Chr7:92237754	Pathogenic	Condition: not provided Cerebral cavernous malformation	Criteria Provided Multiple Submitters No Conflicts	CA368164802	rs_1563313372	4 SubmittersRCV000721881 RCV000803135
NM_194454.3(KRIT1):c.264A>G (p.Gly88=)	SNV Germline	Chr7:92237758	Conflicting classifications of pathogenicity	Condition: not provided Cerebral cavernous malformation Inborn genetic diseases not specified	Criteria Provided Conflicting Classifications	CA4339424	rs_201877439	4 SubmittersRCV000721880 RCV001425135 RCV003165953 RCV005240507
NM_194454.3(KRIT1):c.489G>A (p.Trp163Ter)	SNV Germline	Chr7:92235643	Pathogenic/Likely pathogenic	Condition: not provided Cerebral cavernous malformation	Criteria Provided Multiple Submitters No Conflicts	CA368161619	rs_1563307239	2 SubmittersRCV000760856 RCV006612487
NM_007217.4(PDCD10):c.394A>T (p.Lys132Ter)	SNV Germline	Chr3:167695597	Pathogenic	Cerebral cavernous malformation 3	Criteria Provided Single Submitter	CA355154393	rs_1577329627	1 SubmittersRCV000804198
NM_031443.4(CCM2):c.30G>A (p.Lys10=)	SNV Germline	Chr7:45000363	Conflicting classifications of pathogenicity	Cerebral cavernous malformation 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA454908051	rs_1583819255	3 SubmittersRCV000820734 RCV001759606
NM_031443.4(CCM2):c.638T>C (p.Leu213Pro)	SNV Germline	Chr7:45069854	Conflicting classifications of pathogenicity	Cerebral cavernous malformation 2 Cerebral cavernous malformation	Criteria Provided Conflicting Classifications	CA367430550	rs_1583983649	2 SubmittersRCV000811720 RCV000991327
NM_194454.3(KRIT1):c.1558A>T (p.Lys520Ter)	SNV Germline	Chr7:92221907	Pathogenic	Cerebral cavernous malformation	Criteria Provided Single Submitter	CA368145297	rs_1584873058	1 SubmittersRCV000809461
NM_031443.4(CCM2):c.745+1G>C	SNV Germline	Chr7:45069962	Pathogenic	Cerebral cavernous malformation 2	Criteria Provided Single Submitter	CA367430783	rs_1583984070	1 SubmittersRCV000806137
NM_031443.4(CCM2):c.1217C>T (p.Thr406Met)	SNV Germline	Chr7:45075939	Conflicting classifications of pathogenicity	Cerebral cavernous malformation 2 Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA4247287	rs_150734280	4 SubmittersRCV001001634 RCV002352529 RCV006440201
NM_031443.4(CCM2):c.1238C>T (p.Ser413Leu)	SNV Germline	Chr7:45075960	Conflicting classifications of pathogenicity	Cerebral cavernous malformation 2 Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA4247294	rs_143962510	3 SubmittersRCV001463024 RCV002540020 RCV006435132
NM_194454.3(KRIT1):c.2044A>C (p.Lys682Gln)	SNV Germline	Chr7:92201405	Conflicting classifications of pathogenicity	Cerebral cavernous malformation Condition: not provided Inborn genetic diseases KRIT1-related disorder Uterine corpus endometrial carcinoma Sarcoma Ovarian serous cystadenocarcinoma	Criteria Provided Conflicting Classifications	CA4338964	rs_138763545	6 SubmittersRCV000872046 RCV002281141 RCV002416054 RCV004549965 RCV005907111 RCV005907109 RCV005907110
NM_194454.3(KRIT1):c.2068T>C (p.Leu690=)	SNV Germline	Chr7:92201381	Conflicting classifications of pathogenicity	Condition: not provided Angiokeratoma corporis diffusum with arteriovenous fistulas Cerebral cavernous malformation KRIT1-related disorder	Criteria Provided Conflicting Classifications	CA4338961	rs_370766145	4 SubmittersRCV000893072 RCV001163712 RCV001163713 RCV004551669
NM_194454.3(KRIT1):c.1938A>G (p.Thr646=)	SNV Germline	Chr7:92213282	Conflicting classifications of pathogenicity	Condition: not provided Angiokeratoma corporis diffusum with arteriovenous fistulas Cerebral cavernous malformation KRIT1-related disorder	Criteria Provided Conflicting Classifications	CA4338998	rs_369915828	3 SubmittersRCV000939484 RCV001158794 RCV001158795 RCV004756119
NM_194454.3(KRIT1):c.1400C>T (p.Ser467Leu)	SNV Germline	Chr7:92222833	Likely pathogenic	Cerebral cavernous malformation	No Assertion Criteria Provided	CA368146965	rs_1554513911	1 SubmittersRCV000985202
NM_007217.4(PDCD10):c.178C>T (p.Gln60Ter)	SNV Germline	Chr3:167697099	Pathogenic	Cerebral cavernous malformation 3	Criteria Provided Single Submitter	CA355154901	rs_1720895403	1 SubmittersRCV001055829
NM_031443.4(CCM2):c.354C>A (p.Tyr118Ter)	SNV Germline	Chr7:45064528	Pathogenic	Cerebral cavernous malformation 2	Criteria Provided Single Submitter	CA367429937	rs_765548101	1 SubmittersRCV001063501
NM_031443.4(CCM2):c.839C>G (p.Ser280Ter)	SNV Germline	Chr7:45073495	Pathogenic	Cerebral cavernous malformation 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA367431013	rs_1437280900	2 SubmittersRCV001039626 RCV002511020
NM_031443.4(CCM2):c.970G>T (p.Glu324Ter)	SNV Germline	Chr7:45074324	Pathogenic	Cerebral cavernous malformation 2	Criteria Provided Single Submitter	CA367431309	rs_756276859	1 SubmittersRCV001069823
NM_031443.4(CCM2):c.1078A>T (p.Lys360Ter)	SNV Germline	Chr7:45075800	Pathogenic/Likely pathogenic	Cerebral cavernous malformation 2 CCM2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA367431555	rs_767248510	2 SubmittersRCV001053267 RCV003396677
NM_194454.3(KRIT1):c.2065C>T (p.Gln689Ter)	SNV Germline	Chr7:92201384	Pathogenic	Cerebral cavernous malformation	Criteria Provided Single Submitter	CA368166862	rs_1790098079	1 SubmittersRCV001049339
NM_194454.3(KRIT1):c.1392G>A (p.Trp464Ter)	SNV Germline	Chr7:92222841	Pathogenic	Cerebral cavernous malformation	Criteria Provided Single Submitter	CA368147016	rs_997111087	1 SubmittersRCV001049427
NM_194454.3(KRIT1):c.535C>T (p.Arg179Ter)	SNV Germline	Chr7:92235597	Pathogenic	Cerebral cavernous malformation Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA4339349	rs_777198867	5 SubmittersRCV001062410 RCV004720059
NM_194454.3(KRIT1):c.729+1G>T	SNV Germline	Chr7:92235402	Pathogenic	Cerebral cavernous malformation	Criteria Provided Single Submitter	CA368159251	rs_1563305064	1 SubmittersRCV001061102
NM_194454.3(KRIT1):c.2142+1G>C	SNV Germline	Chr7:92201306	Pathogenic	Cerebral cavernous malformation	Criteria Provided Single Submitter	CA368166348	rs_1790081665	1 SubmittersRCV001050074
NM_194454.3(KRIT1):c.1255-2A>G	SNV Germline	Chr7:92222980	Pathogenic	Cerebral cavernous malformation Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA368148520	rs_1795437460	3 SubmittersRCV001065715 RCV001289360
NM_031443.4(CCM2):c.7G>T (p.Glu3Ter)	SNV Germline	Chr7:45000340	Likely pathogenic	Cerebral cavernous malformation 2	Criteria Provided Single Submitter	CA367423646	rs_1795541254	1 SubmittersRCV001095648
NM_194454.3(KRIT1):c.*46G>A	SNV Germline	Chr7:92200690	Conflicting classifications of pathogenicity	Angiokeratoma corporis diffusum with arteriovenous fistulas Cerebral cavernous malformation	Criteria Provided Conflicting Classifications	CA4338915	rs_369227523	1 SubmittersRCV001163709 RCV001163708
NM_194454.3(KRIT1):c.46C>T (p.Arg16Cys)	SNV Germline	Chr7:92242090	Conflicting classifications of pathogenicity	Angiokeratoma corporis diffusum with arteriovenous fistulas Cerebral cavernous malformation Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4339491	rs_370360812	2 SubmittersRCV001160244 RCV001160245 RCV002558516
NM_194454.3(KRIT1):c.846-15C>T	SNV Germline	Chr7:92234607	Conflicting classifications of pathogenicity	Angiokeratoma corporis diffusum with arteriovenous fistulas Cerebral cavernous malformation	Criteria Provided Conflicting Classifications	CA4339278	rs_527439925	1 SubmittersRCV001163816 RCV001163817
NM_194454.3(KRIT1):c.845+10C>G	SNV Germline	Chr7:92234798	Conflicting classifications of pathogenicity	Angiokeratoma corporis diffusum with arteriovenous fistulas Cerebral cavernous malformation	Criteria Provided Conflicting Classifications	CA4339299	rs_372125478	2 SubmittersRCV001163820 RCV001163821
NM_007217.4(PDCD10):c.418G>T (p.Glu140Ter)	SNV Germline	Chr3:167687671	Pathogenic	Cerebral cavernous malformation 3 Cerebral cavernous malformation	Criteria Provided Multiple Submitters No Conflicts	CA355154324	rs_1719762092	5 SubmittersRCV001197013 RCV004783908
NM_031443.4(CCM2):c.745+2T>C	SNV Germline	Chr7:45069963	Pathogenic	Cerebral cavernous malformation 2	Criteria Provided Single Submitter	CA367430786	rs_1798979994	1 SubmittersRCV001237427
NM_194454.3(KRIT1):c.1819-1G>A	SNV Germline	Chr7:92213402	Pathogenic	Cerebral cavernous malformation	Criteria Provided Single Submitter	CA368140744	rs_1793304372	1 SubmittersRCV001246709
NM_031443.4(CCM2):c.472+1G>C	SNV Germline	Chr7:45064647	Pathogenic/Likely pathogenic	Cerebral cavernous malformation 2	Criteria Provided Multiple Submitters No Conflicts	CA4246987	rs_745710633	2 SubmittersRCV001251154
NM_031443.4(CCM2):c.1061G>A (p.Arg354Lys)	SNV Germline	Chr7:45075783	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Cerebral cavernous malformation 2	Criteria Provided Conflicting Classifications	CA4247253	rs_145579135	4 SubmittersRCV001289362 RCV003166623 RCV006557317
NM_194454.3(KRIT1):c.1868G>A (p.Arg623His)	SNV Germline	Chr7:92213352	Conflicting classifications of pathogenicity	Condition: not provided Cerebral cavernous malformation Inborn genetic diseases not specified	Criteria Provided Conflicting Classifications	CA4339005	rs_143644029	5 SubmittersRCV001289361 RCV003633583 RCV004035570 RCV006269363
NM_031443.4(CCM2):c.643C>T (p.Gln215Ter)	SNV Germline	Chr7:45069859	Pathogenic	Cerebral cavernous malformation 2	Criteria Provided Multiple Submitters No Conflicts	CA367430559	rs_1798970889	2 SubmittersRCV001332643
NM_031443.4(CCM2):c.160G>A (p.Glu54Lys)	SNV Germline	Chr7:45038382	Conflicting classifications of pathogenicity	Cerebral cavernous malformation 2 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4246883	rs_759104121	2 SubmittersRCV001363376 RCV003246944
NM_007217.4(PDCD10):c.558-2A>G	SNV Germline	Chr3:167684391	Pathogenic	Cerebral cavernous malformation 3	Criteria Provided Single Submitter	CA355153968	rs_1553758385	1 SubmittersRCV001389091
NM_031443.4(CCM2):c.151G>T (p.Glu51Ter)	SNV Germline	Chr7:45038373	Pathogenic	Cerebral cavernous malformation 2	Criteria Provided Single Submitter	CA367427184	rs_2128729177	1 SubmittersRCV001389766
NM_194454.3(KRIT1):c.2113A>T (p.Lys705Ter)	SNV Germline	Chr7:92201336	Pathogenic	Cerebral cavernous malformation	Criteria Provided Single Submitter	CA368166565	rs_2131087886	1 SubmittersRCV001387454
NM_194454.3(KRIT1):c.2049T>G (p.Tyr683Ter)	SNV Germline	Chr7:92201400	Pathogenic	Cerebral cavernous malformation	Criteria Provided Single Submitter	CA368166927	rs_2131089190	1 SubmittersRCV001388000
NM_194454.3(KRIT1):c.1616T>G (p.Leu539Ter)	SNV Germline	Chr7:92214725	Pathogenic	Cerebral cavernous malformation	Criteria Provided Single Submitter	CA368142232	rs_1563245596	1 SubmittersRCV001380341
NM_194454.3(KRIT1):c.1333C>T (p.Gln445Ter)	SNV Germline	Chr7:92222900	Pathogenic	Cerebral cavernous malformation Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA368147528	rs_2131454006	2 SubmittersRCV001380312 RCV003120592
NM_194454.3(KRIT1):c.1212G>A (p.Trp404Ter)	SNV Germline	Chr7:92225762	Pathogenic	Cerebral cavernous malformation	Criteria Provided Single Submitter	CA368150695	rs_2131510638	1 SubmittersRCV001389497
NM_194454.3(KRIT1):c.1162C>T (p.Gln388Ter)	SNV Germline	Chr7:92225812	Pathogenic	Cerebral cavernous malformation	Criteria Provided Single Submitter	CA368151191	rs_1796087833	1 SubmittersRCV001385875
NM_194454.3(KRIT1):c.382G>T (p.Gly128Ter)	SNV Germline	Chr7:92236516	Pathogenic	Cerebral cavernous malformation	Criteria Provided Single Submitter	CA368162647	rs_2131676374	1 SubmittersRCV001384337
NM_194454.3(KRIT1):c.250C>T (p.Gln84Ter)	SNV Germline	Chr7:92241005	Pathogenic	Cerebral cavernous malformation	Criteria Provided Single Submitter	CA4339444	rs_751651833	1 SubmittersRCV001387434
NM_194454.3(KRIT1):c.206T>A (p.Leu69Ter)	SNV Germline	Chr7:92241049	Pathogenic	Cerebral cavernous malformation	Criteria Provided Single Submitter	CA368165896	rs_1799516672	1 SubmittersRCV001382706
NM_194454.3(KRIT1):c.1146+1G>T	SNV Germline	Chr7:92226525	Pathogenic	Condition: not provided Cerebral cavernous malformation	Criteria Provided Multiple Submitters No Conflicts	CA368152180	rs_886039401	2 SubmittersRCV001546377 RCV001859366
NM_194454.3(KRIT1):c.992A>G (p.Tyr331Cys)	SNV Germline	Chr7:92226680	Pathogenic	Cerebral cavernous malformation	No Assertion Criteria Provided	CA368153898	rs_1350475816	1 SubmittersRCV001844368
NM_000435.3(NOTCH3):c.2960C>G (p.Thr987Ser)	SNV Germline	Chr19:15180995	Conflicting classifications of pathogenicity	Cerebral cavernous malformation Condition: not provided Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 Lateral meningocele syndrome Myofibromatosis, infantile, 2	Criteria Provided Conflicting Classifications	CA9263227	rs_752995216	3 SubmittersRCV001728074 RCV002032702 RCV002496054
NM_194454.3(KRIT1):c.1664C>T (p.Ala555Val)	SNV Germline	Chr7:92214677	Pathogenic	Cerebral cavernous malformation Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA368141838	rs_2131326892	3 SubmittersRCV001728076 RCV005622122
NM_194454.3(KRIT1):c.1444C>T (p.Gln482Ter)	SNV Germline	Chr7:92222021	Pathogenic	Cerebral cavernous malformation	Criteria Provided Single Submitter	CA368146479	rs_747380313	1 SubmittersRCV001775286
NM_007217.4(PDCD10):c.557+1G>A	SNV Germline	Chr3:167687233	Pathogenic	Condition: not provided Cerebral cavernous malformation 3	Criteria Provided Multiple Submitters No Conflicts	CA2694534	rs_747383685	2 SubmittersRCV001786740 RCV003600420
NM_031443.4(CCM2):c.298C>T (p.Gln100Ter)	SNV Germline	Chr7:45064472	Pathogenic	Cerebral cavernous malformation 2	Criteria Provided Single Submitter	CA367429818	rs_1259805013	1 SubmittersRCV001944784
NM_194454.3(KRIT1):c.1012C>T (p.Arg338Cys)	SNV Germline	Chr7:92226660	Conflicting classifications of pathogenicity	Cerebral cavernous malformation Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4339230	rs_376805857	3 SubmittersRCV001970327 RCV003170238
NM_194454.3(KRIT1):c.1159C>T (p.Gln387Ter)	SNV Germline	Chr7:92225815	Pathogenic	Cerebral cavernous malformation	Criteria Provided Single Submitter	CA368151229	rs_2131511667	1 SubmittersRCV001994524
NM_194454.3(KRIT1):c.102+1G>A	SNV Germline	Chr7:92242033	Pathogenic	Cerebral cavernous malformation	Criteria Provided Single Submitter	CA368166964	rs_2131773689	1 SubmittersRCV002037653
NM_194454.3(KRIT1):c.1791G>A (p.Trp597Ter)	SNV Germline	Chr7:92213919	Pathogenic	Cerebral cavernous malformation	Criteria Provided Single Submitter	CA368141070	rs_2131316175	1 SubmittersRCV002037712
NM_194454.3(KRIT1):c.1705A>T (p.Lys569Ter)	SNV Germline	Chr7:92214636	Pathogenic	Cerebral cavernous malformation	Criteria Provided Single Submitter	CA368141665	rs_2131326255	1 SubmittersRCV001941763
NM_194454.3(KRIT1):c.1400C>G (p.Ser467Ter)	SNV Germline	Chr7:92222833	Pathogenic	Cerebral cavernous malformation Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA368146963	rs_1554513911	2 SubmittersRCV001961923 RCV005603742
NM_031443.4(CCM2):c.665C>T (p.Thr222Met)	SNV Germline	Chr7:45069881	Conflicting classifications of pathogenicity	Cerebral cavernous malformation 2 Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA4247056	rs_370245890	4 SubmittersRCV002017274 RCV002642131 RCV003222377
NM_194454.3(KRIT1):c.707C>A (p.Ser236Ter)	SNV Germline	Chr7:92235425	Pathogenic	Cerebral cavernous malformation	Criteria Provided Single Submitter	CA368159460	rs_1563305269	1 SubmittersRCV001919689
NM_031443.4(CCM2):c.744C>T (p.Ser248=)	SNV Germline	Chr7:45069960	Conflicting classifications of pathogenicity	Cerebral cavernous malformation 2 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA454890359	rs_1240228560	2 SubmittersRCV001926795 RCV003303423
NM_194454.3(KRIT1):c.1818+1G>A	SNV Germline	Chr7:92213891	Likely pathogenic	Cerebral cavernous malformation	Criteria Provided Single Submitter	CA368140838	rs_2131315805	1 SubmittersRCV002004435
NM_194454.3(KRIT1):c.1336C>T (p.Gln446Ter)	SNV Germline	Chr7:92222897	Pathogenic	Cerebral cavernous malformation Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA368147496	rs_2131453888	2 SubmittersRCV002000050 RCV004697173
NM_194454.3(KRIT1):c.2064G>A (p.Trp688Ter)	SNV Germline	Chr7:92201385	Pathogenic	Cerebral cavernous malformation	Criteria Provided Single Submitter	CA368166865	rs_2131088953	1 SubmittersRCV001993373
NM_194454.3(KRIT1):c.596C>G (p.Ser199Ter)	SNV Germline	Chr7:92235536	Pathogenic	Cerebral cavernous malformation	Criteria Provided Single Submitter	CA368160719	rs_2131662647	1 SubmittersRCV002007450
NM_007217.4(PDCD10):c.160G>T (p.Glu54Ter)	SNV Germline	Chr3:167697117	Pathogenic	Cerebral cavernous malformation 3 PDCD10-related disorder	Criteria Provided Single Submitter	CA355154941	rs_2108409609	2 SubmittersRCV001917956 RCV004741133
NM_031443.4(CCM2):c.473-2A>G	SNV Germline	Chr7:45068441	Pathogenic	Cerebral cavernous malformation 2	Criteria Provided Single Submitter	CA367430191	rs_1798890807	1 SubmittersRCV001932653
NM_194454.3(KRIT1):c.1730+1G>A	SNV Germline	Chr7:92214610	Pathogenic	Cerebral cavernous malformation	Criteria Provided Single Submitter	CA368141604	rs_2131325903	1 SubmittersRCV001993487
NM_194454.3(KRIT1):c.1211G>A (p.Trp404Ter)	SNV Germline	Chr7:92225763	Pathogenic	Cerebral cavernous malformation Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA368150697	rs_2131510675	2 SubmittersRCV001953539 RCV005421069
NM_194454.3(KRIT1):c.1027A>T (p.Lys343Ter)	SNV Germline	Chr7:92226645	Pathogenic	Cerebral cavernous malformation	Criteria Provided Single Submitter	CA368153460	rs_2131527403	1 SubmittersRCV001951321
NM_007217.4(PDCD10):c.456T>G (p.Tyr152Ter)	SNV Germline	Chr3:167687633	Pathogenic	Cerebral cavernous malformation 3	Criteria Provided Single Submitter	CA355154235	rs_976585767	1 SubmittersRCV001956517
NM_031443.4(CCM2):c.1091A>G (p.His364Arg)	SNV Germline	Chr7:45075813	Conflicting classifications of pathogenicity	Cerebral cavernous malformation 2 Inborn genetic diseases Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA4247260	rs_201559289	4 SubmittersRCV001955131 RCV002442903 RCV003225207 RCV006453822
NM_194454.3(KRIT1):c.1561C>T (p.Gln521Ter)	SNV Germline	Chr7:92221904	Pathogenic/Likely pathogenic	Cerebral cavernous malformation 1 Cerebral cavernous malformation	Criteria Provided Multiple Submitters No Conflicts	CA368145254	rs_2131435199	2 SubmittersRCV002225242 RCV002471259
NM_194454.3(KRIT1):c.1905T>A (p.Tyr635Ter)	SNV Germline	Chr7:92213315	Pathogenic	Condition: not provided Cerebral cavernous malformation	Criteria Provided Multiple Submitters No Conflicts	CA368139974	rs_140072597	3 SubmittersRCV002244331 RCV004594625
NM_002401.5(MAP3K3):c.1323C>G (p.Ile441Met)	SNV Somatic	Chr17:63691212	Pathogenic/Likely pathogenic	Verrucous hemangioma CEREBRAL CAVERNOUS MALFORMATIONS 5, SOMATIC	Criteria Provided Multiple Submitters No Conflicts	CA400572507	rs_2143631386	3 SubmittersRCV002254484 RCV004799648
NM_194454.3(KRIT1):c.1564-1G>A	SNV Germline	Chr7:92214778	Pathogenic	Condition: not provided Cerebral cavernous malformation	Criteria Provided Multiple Submitters No Conflicts	CA368142680	rs_2535727492	2 SubmittersRCV002283110 RCV003523125
NM_194454.3(KRIT1):c.813G>A (p.Trp271Ter)	SNV Germline	Chr7:92234840	Pathogenic/Likely pathogenic	Cerebral cavernous malformation Condition: not provided KRIT1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA368158487	rs_2536012456	3 SubmittersRCV002289378 RCV004591869 RCV004731259
NM_194454.3(KRIT1):c.981T>G (p.Tyr327Ter)	SNV Germline	Chr7:92234457	Likely pathogenic	Cerebral cavernous malformation	Criteria Provided Single Submitter	CA368156705	rs_2536003312	1 SubmittersRCV002290168
NM_031443.4(CCM2):c.916-1G>T	SNV Germline	Chr7:45074269	Likely pathogenic	Cerebral cavernous malformation 2 Malignant tumor of esophagus	Criteria Provided Single Submitter	CA367431194	rs_2486175038	2 SubmittersRCV002290422 RCV005931689
NM_194454.3(KRIT1):c.1384A>G (p.Thr462Ala)	SNV Germline	Chr7:92222849	Conflicting classifications of pathogenicity	Inborn genetic diseases Cerebral cavernous malformation KRIT1-related disorder not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA4339130	rs_141514714	5 SubmittersRCV002381230 RCV003633653 RCV004548289 RCV004801210 RCV006281002
NM_194454.3(KRIT1):c.2025+1G>A	SNV Germline	Chr7:92213194	Pathogenic	Cerebral cavernous malformation	Criteria Provided Multiple Submitters No Conflicts	CA368138963	rs_2535703262	2 SubmittersRCV002468737
NM_194454.3(KRIT1):c.780C>G (p.Tyr260Ter)	SNV Germline	Chr7:92234873	Pathogenic	Cerebral cavernous malformation	Criteria Provided Single Submitter	CA368158752	rs_1307397097	1 SubmittersRCV002468738
NM_194454.3(KRIT1):c.857G>A (p.Trp286Ter)	SNV Germline	Chr7:92234581	Pathogenic	Cerebral cavernous malformation 1	Criteria Provided Single Submitter	CA368158071	rs_2536005737	1 SubmittersRCV002472008
NM_194454.3(KRIT1):c.406C>T (p.Gln136Ter)	SNV Germline	Chr7:92236492	Pathogenic	Cerebral cavernous malformation	Criteria Provided Single Submitter	CA368162458	rs_2536042735	1 SubmittersRCV003037235
NM_194454.3(KRIT1):c.2025+1G>T	SNV Germline	Chr7:92213194	Pathogenic	Cerebral cavernous malformation	Criteria Provided Single Submitter	CA368138961	rs_2535703262	1 SubmittersRCV002819546
NM_194454.3(KRIT1):c.2143-2A>T	SNV Germline	Chr7:92200806	Pathogenic	Cerebral cavernous malformation	Criteria Provided Single Submitter	CA368166253	rs_2535507304	1 SubmittersRCV002820354
NM_194454.3(KRIT1):c.1249A>T (p.Lys417Ter)	SNV Germline	Chr7:92225725	Pathogenic	Cerebral cavernous malformation	Criteria Provided Single Submitter	CA368150320	rs_2535871507	1 SubmittersRCV002881566
NM_194454.3(KRIT1):c.508C>T (p.Gln170Ter)	SNV Germline	Chr7:92235624	Pathogenic	Cerebral cavernous malformation	Criteria Provided Single Submitter	CA368161493	rs_1418677221	1 SubmittersRCV002847419
NM_031443.4(CCM2):c.915+2T>C	SNV Germline	Chr7:45073573	Likely pathogenic	Cerebral cavernous malformation 2	Criteria Provided Single Submitter	CA367431186	rs_2486170351	1 SubmittersRCV002847141
NM_194454.3(KRIT1):c.1790G>A (p.Trp597Ter)	SNV Germline	Chr7:92213920	Pathogenic	Cerebral cavernous malformation	Criteria Provided Single Submitter	CA368141089	rs_2535715547	1 SubmittersRCV002858372
NM_194454.3(KRIT1):c.404T>A (p.Leu135Ter)	SNV Germline	Chr7:92236494	Pathogenic	Cerebral cavernous malformation	Criteria Provided Single Submitter	CA368162470	rs_2536042810	1 SubmittersRCV002866991
NM_194454.3(KRIT1):c.1377A>G (p.Gln459=)	SNV Germline	Chr7:92222856	Conflicting classifications of pathogenicity	Cerebral cavernous malformation	Criteria Provided Conflicting Classifications	CA4339132	rs_775375977	2 SubmittersRCV002998966
NM_007217.4(PDCD10):c.97-1G>A	SNV Germline	Chr3:167704896	Pathogenic	Cerebral cavernous malformation 3	Criteria Provided Single Submitter	CA355155091	rs_1314521430	1 SubmittersRCV003024334
NM_007217.4(PDCD10):c.557+1G>T	SNV Germline	Chr3:167687233	Pathogenic	Cerebral cavernous malformation 3	Criteria Provided Single Submitter	CA355153979	rs_747383685	1 SubmittersRCV003035801
NM_007217.4(PDCD10):c.208A>T (p.Lys70Ter)	SNV Germline	Chr3:167697069	Pathogenic	Cerebral cavernous malformation 3	Criteria Provided Multiple Submitters No Conflicts	CA355154826	rs_2475731521	2 SubmittersRCV003120126
NM_194454.3(KRIT1):c.646A>T (p.Lys216Ter)	SNV Germline	Chr7:92235486	Pathogenic	Cerebral cavernous malformation	Criteria Provided Single Submitter	CA368160184	rs_1563305909	1 SubmittersRCV003224698
NM_194454.3(KRIT1):c.1688A>G (p.Tyr563Cys)	SNV Germline	Chr7:92214653	Conflicting classifications of pathogenicity	Inborn genetic diseases Cerebral cavernous malformation	Criteria Provided Conflicting Classifications	CA4339059	rs_756158170	2 SubmittersRCV003253673 RCV003456314
NM_031443.4(CCM2):c.338T>C (p.Leu113Pro)	SNV Germline	Chr7:45064512	Pathogenic	Cerebral cavernous malformation 2 Condition: not provided	Criteria Provided Single Submitter	CA367429905	rs_2486112288	2 SubmittersRCV003319556 RCV004593261
NM_031443.4(CCM2):c.593T>C (p.Leu198Pro)	SNV Germline	Chr7:45068563	Pathogenic	Cerebral cavernous malformation 2	No Assertion Criteria Provided	CA367430442	rs_137852843	1 SubmittersRCV003319557
NM_031443.4(CCM2):c.365T>G (p.Leu122Arg)	SNV Germline	Chr7:45064539	Pathogenic	Cerebral cavernous malformation 2	No Assertion Criteria Provided	CA367429960	rs_2486112668	1 SubmittersRCV003319558
NM_031443.4(CCM2):c.367G>C (p.Ala123Pro)	SNV Germline	Chr7:45064541	Pathogenic	Cerebral cavernous malformation 2	No Assertion Criteria Provided	CA367429965	rs_2486112694	1 SubmittersRCV003319559
NM_031443.4(CCM2):c.204+8G>A	SNV Germline	Chr7:45038434	Conflicting classifications of pathogenicity	Condition: not provided Cerebral cavernous malformation 2	Criteria Provided Conflicting Classifications	CA4246889	rs_376855404	2 SubmittersRCV003322098 RCV005102899
NM_007217.4(PDCD10):c.396-2A>G	SNV Germline	Chr3:167687695	Pathogenic	Condition: not provided Cerebral cavernous malformation 3	Criteria Provided Multiple Submitters No Conflicts	CA355154382	rs_1559945126	2 SubmittersRCV003328847 RCV005871133
NM_194454.3(KRIT1):c.292C>T (p.Pro98Ser)	SNV Germline	Chr7:92237730	Conflicting classifications of pathogenicity	Inborn genetic diseases Cerebral cavernous malformation	Criteria Provided Conflicting Classifications	CA4339421	rs_199905288	2 SubmittersRCV003356305 RCV005104071
NM_194454.3(KRIT1):c.1564-2A>T	SNV Germline	Chr7:92214779	Likely pathogenic	Cerebral cavernous malformation	Criteria Provided Single Submitter	CA368142687	rs_2535727506	1 SubmittersRCV003387583
NM_031443.4(CCM2):c.803+1G>A	SNV Germline	Chr7:45072784	Likely pathogenic	Cerebral cavernous malformation 2	Criteria Provided Single Submitter	CA367430926	rs_1350848319	1 SubmittersRCV003388501
NM_031443.4(CCM2):c.1193C>A (p.Ser398Tyr)	SNV Germline	Chr7:45075915	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Cerebral cavernous malformation 2	Criteria Provided Conflicting Classifications	CA4247280	rs_750632206	3 SubmittersRCV003443284 RCV005310987 RCV005100090
NM_194454.3(KRIT1):c.891T>A (p.Cys297Ter)	SNV Germline	Chr7:92234547	Pathogenic	Cerebral cavernous malformation	Criteria Provided Single Submitter	CA368157927	rs_2536004935	1 SubmittersRCV003523949
NM_194454.3(KRIT1):c.486-1G>T	SNV Germline	Chr7:92235647	Pathogenic	Cerebral cavernous malformation	Criteria Provided Single Submitter	CA368161646	rs_1554529341	1 SubmittersRCV003524026
NM_031443.4(CCM2):c.31-1G>C	SNV Germline	Chr7:45038252	Likely pathogenic	Cerebral cavernous malformation 2	Criteria Provided Single Submitter	CA367426507	rs_2485984699	1 SubmittersRCV003498787
NM_194454.3(KRIT1):c.847G>T (p.Glu283Ter)	SNV Germline	Chr7:92234591	Pathogenic	Cerebral cavernous malformation	Criteria Provided Single Submitter	CA368158126	rs_2536005944	1 SubmittersRCV003524200
NM_007217.4(PDCD10):c.396-2A>C	SNV Germline	Chr3:167687695	Pathogenic	Cerebral cavernous malformation 3	Criteria Provided Single Submitter	CA355154383	rs_1559945126	1 SubmittersRCV003499784
NM_194454.3(KRIT1):c.1261A>T (p.Lys421Ter)	SNV Germline	Chr7:92222972	Pathogenic	Cerebral cavernous malformation	Criteria Provided Single Submitter	CA368148417	rs_2535833397	1 SubmittersRCV003523653
NM_031443.4(CCM2):c.652C>T (p.Gln218Ter)	SNV Germline	Chr7:45069868	Pathogenic	Cerebral cavernous malformation 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA367430580	rs_2486144500	2 SubmittersRCV003499941 RCV004719349
NM_194454.3(KRIT1):c.2025G>C (p.Lys675Asn)	SNV Germline	Chr7:92213195	Likely pathogenic	Cerebral cavernous malformation	Criteria Provided Single Submitter	CA368138965	rs_2535703286	1 SubmittersRCV003525294
NM_194454.3(KRIT1):c.1905T>G (p.Tyr635Ter)	SNV Germline	Chr7:92213315	Pathogenic	Cerebral cavernous malformation Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA368139972	rs_140072597	2 SubmittersRCV003525296 RCV004719351
NM_194454.3(KRIT1):c.1877T>A (p.Leu626Ter)	SNV Germline	Chr7:92213343	Pathogenic	Cerebral cavernous malformation	Criteria Provided Single Submitter	CA368140204	rs_2535706411	1 SubmittersRCV003525297
NM_194454.3(KRIT1):c.1498C>T (p.Gln500Ter)	SNV Germline	Chr7:92221967	Pathogenic	Cerebral cavernous malformation	Criteria Provided Single Submitter	CA4339094	rs_569733779	1 SubmittersRCV003525298
NM_194454.3(KRIT1):c.601C>T (p.Gln201Ter)	SNV Germline	Chr7:92235531	Pathogenic	Cerebral cavernous malformation	Criteria Provided Single Submitter	CA368160660	rs_137853140	1 SubmittersRCV003525301
NM_194454.3(KRIT1):c.2030T>A (p.Leu677Ter)	SNV Germline	Chr7:92201419	Pathogenic	Cerebral cavernous malformation	Criteria Provided Single Submitter	CA368167024	rs_2535518733	1 SubmittersRCV003524788
NM_031443.4(CCM2):c.30+5G>T	SNV Germline	Chr7:45000368	Likely pathogenic	Cerebral cavernous malformation 2	Criteria Provided Single Submitter	CA4246819	rs_773187380	1 SubmittersRCV003498580
NM_194454.3(KRIT1):c.1732G>T (p.Glu578Ter)	SNV Germline	Chr7:92213978	Pathogenic	Cerebral cavernous malformation	Criteria Provided Single Submitter	CA368141527	rs_2535716674	1 SubmittersRCV003634822
NM_194454.3(KRIT1):c.1423A>T (p.Lys475Ter)	SNV Germline	Chr7:92222042	Pathogenic	Cerebral cavernous malformation	Criteria Provided Single Submitter	CA368146690	rs_2535820956	1 SubmittersRCV003634928
NM_194454.3(KRIT1):c.729+2T>G	SNV Germline	Chr7:92235401	Pathogenic	Cerebral cavernous malformation	Criteria Provided Single Submitter	CA368159244	rs_1554528541	1 SubmittersRCV003635123
NM_031443.4(CCM2):c.499C>T (p.Gln167Ter)	SNV Germline	Chr7:45068469	Pathogenic	Cerebral cavernous malformation 2	Criteria Provided Single Submitter	CA367430253	rs_2486135403	1 SubmittersRCV003605337
NM_194454.3(KRIT1):c.1549G>T (p.Glu517Ter)	SNV Germline	Chr7:92221916	Pathogenic	Cerebral cavernous malformation	Criteria Provided Single Submitter	CA368145433	rs_2535818867	1 SubmittersRCV003635347
NM_194454.3(KRIT1):c.916C>T (p.Arg306Cys)	SNV Germline	Chr7:92234522	Conflicting classifications of pathogenicity	Inborn genetic diseases Cerebral cavernous malformation	Criteria Provided Conflicting Classifications	CA4339267	rs_146328341	2 SubmittersRCV004412154 RCV005104509
NM_194454.3(KRIT1):c.2044A>T (p.Lys682Ter)	SNV Germline	Chr7:92201405	Pathogenic	Cerebral cavernous malformation	Criteria Provided Single Submitter			1 SubmittersRCV004720205
NM_031443.4(CCM2):c.289-2A>G	SNV Germline	Chr7:45064461	Pathogenic	Cerebral cavernous malformation 2	Criteria Provided Single Submitter			1 SubmittersRCV004720551
NM_194454.3(KRIT1):c.479T>A (p.Leu160Ter)	SNV Unknown	Chr7:92236419	Likely pathogenic	Cerebral cavernous malformation	Criteria Provided Single Submitter			1 SubmittersRCV004759488
NM_031443.4(CCM2):c.475C>T (p.Gln159Ter)	SNV Germline	Chr7:45068445	Pathogenic	Condition: not provided Cerebral cavernous malformation 2	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV005001544 RCV005112517
NM_031443.4(CCM2):c.204+1G>A	SNV Germline	Chr7:45038427	Pathogenic	Cerebral cavernous malformation 2	Criteria Provided Single Submitter			1 SubmittersRCV005069250
NM_194454.3(KRIT1):c.2026-1G>C	SNV Germline	Chr7:92201424	Pathogenic	Cerebral cavernous malformation	Criteria Provided Single Submitter			1 SubmittersRCV005126800
NM_194454.3(KRIT1):c.142A>T (p.Lys48Ter)	SNV Germline	Chr7:92241113	Pathogenic	Cerebral cavernous malformation	Criteria Provided Single Submitter			1 SubmittersRCV005125781
NM_007217.4(PDCD10):c.558-1G>A	SNV Germline	Chr3:167684390	Pathogenic	Cerebral cavernous malformation 3	Criteria Provided Single Submitter			1 SubmittersRCV005139137
NM_194454.3(KRIT1):c.1810G>T (p.Glu604Ter)	SNV Germline	Chr7:92213900	Pathogenic	Cerebral cavernous malformation	Criteria Provided Single Submitter			1 SubmittersRCV005135957
NM_007217.4(PDCD10):c.456T>A (p.Tyr152Ter)	SNV Germline	Chr3:167687633	Pathogenic	Cerebral cavernous malformation 3	Criteria Provided Single Submitter			1 SubmittersRCV005201660
NM_194454.3(KRIT1):c.1611T>A (p.Tyr537Ter)	SNV Germline	Chr7:92214730	Pathogenic	Cerebral cavernous malformation	Criteria Provided Single Submitter			1 SubmittersRCV005200629
NM_194454.3(KRIT1):c.1289C>G (p.Ser430Ter)	SNV Germline	Chr7:92222944	Pathogenic	Cerebral cavernous malformation	Criteria Provided Single Submitter			1 SubmittersRCV005200630
NM_031443.4(CCM2):c.745+1G>T	SNV Germline	Chr7:45069962	Pathogenic	Cerebral cavernous malformation 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV005199054 RCV005255817
NM_194454.3(KRIT1):c.1135G>T (p.Glu379Ter)	SNV Germline	Chr7:92226537	Pathogenic	Cerebral cavernous malformation	Criteria Provided Single Submitter			1 SubmittersRCV005199055
NM_031443.4(CCM2):c.609+2T>C	SNV Germline	Chr7:45068581	Likely pathogenic	Cerebral cavernous malformation 2	Criteria Provided Single Submitter			1 SubmittersRCV005195793
NM_194454.3(KRIT1):c.1648A>T (p.Lys550Ter)	SNV Germline	Chr7:92214693	Likely pathogenic	Cerebral cavernous malformation	Criteria Provided Single Submitter			1 SubmittersRCV005252266
NM_031443.4(CCM2):c.473-1G>T	SNV Germline	Chr7:45068442	Pathogenic	Condition: not provided Cerebral cavernous malformation 2	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV005256177 RCV006489487
NM_194454.3(KRIT1):c.1411+1G>A	SNV Unknown	Chr7:92222821	Likely pathogenic	Cerebral cavernous malformation	Criteria Provided Single Submitter			1 SubmittersRCV005257938
NM_194454.3(KRIT1):c.1446A>G (p.Gln482=)	SNV Germline	Chr7:92222019	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Cerebral cavernous malformation	Criteria Provided Conflicting Classifications			3 SubmittersRCV006280134 RCV006363523 RCV006613772
NM_194454.3(KRIT1):c.486-2A>T	SNV Germline	Chr7:92235648	Pathogenic	Cerebral cavernous malformation	Criteria Provided Single Submitter			1 SubmittersRCV006512880
NM_194454.3(KRIT1):c.1237G>T (p.Glu413Ter)	SNV Germline	Chr7:92225737	Pathogenic	Cerebral cavernous malformation	Criteria Provided Single Submitter			1 SubmittersRCV006496746
NM_194454.3(KRIT1):c.1889G>A (p.Trp630Ter)	SNV Germline	Chr7:92213331	Pathogenic	Cerebral cavernous malformation	Criteria Provided Single Submitter			1 SubmittersRCV006500889
NM_194454.3(KRIT1):c.1600G>T (p.Glu534Ter)	SNV Germline	Chr7:92214741	Pathogenic	Cerebral cavernous malformation	Criteria Provided Single Submitter			1 SubmittersRCV006511195
NM_194454.3(KRIT1):c.2023A>T (p.Lys675Ter)	SNV Germline	Chr7:92213197	Pathogenic	Cerebral cavernous malformation	Criteria Provided Single Submitter			1 SubmittersRCV006520996
NM_194454.3(KRIT1):c.1052T>G (p.Leu351Ter)	SNV Germline	Chr7:92226620	Pathogenic	Cerebral cavernous malformation	Criteria Provided Single Submitter			1 SubmittersRCV006516490
NM_194454.3(KRIT1):c.703G>A (p.Gly235Arg)	SNV Germline	Chr7:92235429	Likely pathogenic	Cerebral cavernous malformation	Criteria Provided Single Submitter			1 SubmittersRCV006522274

NM_007217.4(PDCD10):c.385C>T (p.Gln129Ter)

SNV
Germline

Chr3:167695606

Pathogenic

Cerebral cavernous malformation 3

No Assertion Criteria Provided

CA355154415

rs_1577329665

1 SubmittersRCV000001942

NM_007217.4(PDCD10):c.475-1G>A

SNV
Germline

Chr3:167687317

Pathogenic

Cerebral cavernous malformation 3

Criteria Provided
Single Submitter

CA355154181

rs_1577317859

2 SubmittersRCV000001946

NM_031443.4(CCM2):c.319C>T (p.Gln107Ter)

SNV
Germline

Chr7:45064493

Pathogenic

Cerebral cavernous malformation 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA252392

rs_137852841

3 SubmittersRCV000002800 RCV000289897

NM_031443.4(CCM2):c.1A>G (p.Met1Val)

SNV
Germline

Chr7:45000334

Pathogenic

Cerebral cavernous malformation 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA252397

rs_137852842

3 SubmittersRCV000002803 RCV000517211

NM_031443.4(CCM2):c.288+1G>A

SNV
Germline

Chr7:45064002

Pathogenic

Cerebral cavernous malformation 2

No Assertion Criteria Provided

CA367429785

rs_1562906981

1 SubmittersRCV000002804

NM_031443.4(CCM2):c.593T>G (p.Leu198Arg)

SNV
Germline

Chr7:45068563

Pathogenic

Cerebral cavernous malformation 2

No Assertion Criteria Provided

CA252400

rs_137852843

1 SubmittersRCV000002805

NM_194454.3(KRIT1):c.1879C>T (p.Gln627Ter)

SNV
Germline

Chr7:92213341

Pathogenic

Cerebral cavernous malformation 1
Cerebral cavernous malformation

Criteria Provided
Single Submitter

CA368140184

rs_2131309013

2 SubmittersRCV000006072 RCV002512817

NM_194454.3(KRIT1):c.1363C>T (p.Gln455Ter)

SNV
Germline

Chr7:92222870

Pathogenic

Cerebral cavernous malformation 1
Cerebral cavernous malformation
Condition: not provided
KRIT1-related disorder
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA253579

rs_267607203

13 SubmittersRCV000006075 RCV000239441 RCV000256079 RCV004547460 RCV006362015

NM_194454.3(KRIT1):c.845+2T>C

SNV
Germline

Chr7:92234806

Pathogenic

Cerebral cavernous malformation 1
Cerebral cavernous malformation

No Assertion Criteria Provided

CA368158208

rs_1563302930

2 SubmittersRCV000006077 RCV003444193

NM_194454.3(KRIT1):c.410A>G (p.Asp137Gly)

SNV
Germline

Chr7:92236488

Likely pathogenic

Cerebral cavernous malformation 1
Cerebral cavernous malformation

Criteria Provided
Multiple Submitters
No Conflicts

CA253586

rs_137853139

3 SubmittersRCV000006079 RCV001822994

NM_194454.3(KRIT1):c.601C>G (p.Gln201Glu)

SNV
Germline

Chr7:92235531

Pathogenic

Cerebral cavernous malformation 1
Condition: not provided
Cerebral cavernous malformation

Criteria Provided
Multiple Submitters
No Conflicts

CA253589

rs_137853140

3 SubmittersRCV000006080 RCV000522732 RCV003522917

NM_194454.3(KRIT1):c.987C>A (p.Cys329Ter)

SNV
Germline

Chr7:92234451

Pathogenic

Cerebral cavernous malformation 1
Cerebral cavernous malformation

No Assertion Criteria Provided

CA253592

rs_267607204

2 SubmittersRCV000006082 RCV000239438

NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg)

SNV
Germline/somatic

Chr3:179234297

Pathogenic

Carcinoma of colon
Hepatocellular carcinoma
Non-small cell lung carcinoma
Seborrheic keratosis
Breast adenocarcinoma
OVARIAN CANCER, EPITHELIAL, SOMATIC
CLOVES syndrome
Ovarian neoplasm
PIK3CA related overgrowth syndrome
Neoplasm
Rosette-forming glioneuronal tumor
MACRODACTYLY, SOMATIC
Condition: not provided
Lip and oral cavity carcinoma
Abnormal cardiovascular system morphology
CEREBRAL CAVERNOUS MALFORMATIONS 4, SOMATIC
CLAPO syndrome
Cerebrofacial Vascular Metameric Syndrome (CVMS)
Megalencephaly-capillary malformation-polymicrogyria syndrome
Congenital macrodactylia
Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
Segmental undergrowth associated with mainly venous malformation with capillary component
Segmental undergrowth associated with lymphatic malformation
Gastric cancer
Breast carcinoma
Klippel-Trenaunay-like-Syndrome
Rare venous malformation
PIK3CA-related disorder
Rare combined vascular malformation
PIK3CA-Related Overgrowth Spectrum Disorders
Nasopharyngeal carcinoma
Diffuse midline glioma, H3 K27M-mutant
Cervical squamous cell carcinoma
Diffuse glioma, H3 G34 mutant
Glioma
Neuroblastoma
Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype
Colorectal cancer
Adenoid cystic carcinoma
Cavernous lymphangioma
Embryonal rhabdomyosarcoma

Reviewed By Expert Panel

CA123326

rs_121913279

33 SubmittersRCV000014624 RCV000014626 RCV000014627 RCV000014628 RCV000014622 RCV000014623 RCV000024621 RCV000154516 RCV000201231 RCV000438435 RCV000487449 RCV000709691 RCV001092442 RCV001255686 RCV001327968 RCV001728091 RCV001729349 RCV001730472 RCV001807727 RCV001526648 RCV001836707 RCV001705589 RCV001705590 RCV002508124 RCV003128082 RCV003325939 RCV004527290 RCV004737153 RCV004527291 RCV005051734 RCV006253556 RCV006253562 RCV006456613 RCV006253564 RCV006253557 RCV006253555 RCV006253561 RCV006253558 RCV006253559 RCV006253563 RCV006253560

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_006218.4(PIK3CA):c.1633G>A (p.Glu545Lys)

SNV
Germline/somatic

Chr3:179218303

Pathogenic/Likely pathogenic

Carcinoma of colon
Seborrheic keratosis
Breast adenocarcinoma
OVARIAN CANCER, EPITHELIAL, SOMATIC
Non-small cell lung carcinoma
Megalencephaly-capillary malformation-polymicrogyria syndrome
Sarcoma
Ovarian neoplasm
Condition: not provided
Abnormal cardiovascular system morphology
CLOVES syndrome
Cerebrofacial Vascular Metameric Syndrome (CVMS)
PIK3CA related overgrowth syndrome
Segmental undergrowth associated with lymphatic malformation
Gallbladder cancer
Eccrine angiomatous hamartoma
Gastric cancer
HEMIFACIAL MYOHYPERPLASIA, SOMATIC
Angioosteohypertrophic syndrome
Rare venous malformation
Rare combined vascular malformation
Neoplasm
PIK3CA overgrowth syndrome
PIK3CA-related disorder
Medulloblastoma WNT activated
IDH-wildtype glioblastoma
Rosette-forming glioneuronal tumor
Cervical squamous cell carcinoma
Adenocarcinoma of the large intestine
Embryonal rhabdomyosarcoma
Lymphatic malformation
Congenital fibrosarcoma
Cerebral cavernous malformation

Criteria Provided
Multiple Submitters
No Conflicts

CA123334

rs_104886003

22 SubmittersRCV000014633 RCV000014636 RCV000014631 RCV000014632 RCV000038671 RCV000055930 RCV000119356 RCV000422210 RCV001092440 RCV001327963 RCV001262721 RCV001730473 RCV001290591 RCV001705591 RCV001374447 RCV001786329 RCV002508125 RCV003764575 RCV004527293 RCV004527294 RCV004527295 RCV004668729 RCV004698419 RCV005867755 RCV006253573 RCV006253575 RCV006253570 RCV006456614 RCV006253574 RCV006253571 RCV006253569 RCV006253572 RCV006253568

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_194454.3(KRIT1):c.1326C>G (p.Thr442=)

SNV
Germline

Chr7:92222907

Conflicting classifications of pathogenicity

not specified
Cerebral cavernous malformation
Angiokeratoma corporis diffusum with arteriovenous fistulas
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4339137

rs_150912644

4 SubmittersRCV000248450 RCV000318995 RCV000378263 RCV002379094

NM_194454.3(KRIT1):c.1731-2A>G

SNV
Germline

Chr7:92213981

Pathogenic

Condition: not provided
Cerebral cavernous malformation

Criteria Provided
Multiple Submitters
No Conflicts

CA10588437

rs_886039571

2 SubmittersRCV000255059 RCV001808723

NM_194454.3(KRIT1):c.1267C>T (p.Arg423Ter)

SNV
Germline

Chr7:92222966

Pathogenic

Condition: not provided
Cerebral cavernous malformation
KRIT1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA10588438

rs_886039402

9 SubmittersRCV000255480 RCV000552103 RCV004547646

NM_194454.3(KRIT1):c.1146+1G>A

SNV
Germline

Chr7:92226525

Pathogenic

Condition: not provided
Cerebral cavernous malformation

Criteria Provided
Multiple Submitters
No Conflicts

CA10588439

rs_886039401

3 SubmittersRCV000254945 RCV002518752

NM_194454.3(KRIT1):c.802C>T (p.Gln268Ter)

SNV
Germline

Chr7:92234851

Pathogenic/Likely pathogenic

Condition: not provided
Cerebral cavernous malformation

Criteria Provided
Multiple Submitters
No Conflicts

CA10588440

rs_886039659

2 SubmittersRCV000255382 RCV003144183

NM_031443.4(CCM2):c.214C>T (p.Gln72Ter)

SNV
Germline

Chr7:45063927

Pathogenic

Condition: not provided
Cerebral cavernous malformation 2

Criteria Provided
Multiple Submitters
No Conflicts

CA10602956

rs_886041157

2 SubmittersRCV000399152 RCV001855050

NM_194454.3(KRIT1):c.715C>T (p.Gln239Ter)

SNV
Germline

Chr7:92235417

Pathogenic/Likely pathogenic

Cerebral cavernous malformation
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10605352

rs_886043300

4 SubmittersRCV000392041 RCV000517670

NM_007217.4(PDCD10):c.574G>A (p.Val192Ile)

SNV
Germline

Chr3:167684373

Conflicting classifications of pathogenicity

Cerebral cavernous malformation 3
PDCD10-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2694506

rs_151267430

5 SubmittersRCV001406380 RCV003957779 RCV006445943

NM_194454.3(KRIT1):c.1139C>T (p.Thr380Met)

SNV
Germline

Chr7:92226533

Conflicting classifications of pathogenicity

Cerebral cavernous malformation
Angiokeratoma corporis diffusum with arteriovenous fistulas

Criteria Provided
Conflicting Classifications

CA4339207

rs_533696377

1 SubmittersRCV000309247 RCV000368618

NM_194454.3(KRIT1):c.1063C>T (p.Leu355Phe)

SNV
Germline

Chr7:92226609

Conflicting classifications of pathogenicity

Cerebral cavernous malformation
Angiokeratoma corporis diffusum with arteriovenous fistulas
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4339222

rs_182763805

4 SubmittersRCV000261141 RCV000369873 RCV005652368 RCV006277816

NM_194454.3(KRIT1):c.*132T>G

SNV
Germline

Chr7:92200604

Conflicting classifications of pathogenicity

Angiokeratoma corporis diffusum with arteriovenous fistulas
Cerebral cavernous malformation
Condition: not provided
KRIT1-related disorder

Criteria Provided
Conflicting Classifications

CA10629615

rs_572414111

6 SubmittersRCV000304668 RCV000364001 RCV002275015 RCV004549821

NM_194454.3(KRIT1):c.302G>T (p.Gly101Val)

SNV
Germline

Chr7:92237720

Conflicting classifications of pathogenicity

Angiokeratoma corporis diffusum with arteriovenous fistulas
Cerebral cavernous malformation
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4339419

rs_147568834

6 SubmittersRCV000265398 RCV000320476 RCV005434875 RCV006250285

NM_007217.4(PDCD10):c.103C>T (p.Arg35Ter)

SNV
Germline

Chr3:167704889

Pathogenic

Condition: not provided
Cerebral cavernous malformation 3
Cerebral cavernous malformation

Criteria Provided
Multiple Submitters
No Conflicts

CA16042486

rs_1057517786

7 SubmittersRCV000414133 RCV000813410 RCV001727711

NM_194454.3(KRIT1):c.486-2A>G

SNV
Germline

Chr7:92235648

Pathogenic

Condition: not provided
Cerebral cavernous malformation

Criteria Provided
Multiple Submitters
No Conflicts

CA16605155

rs_965713946

2 SubmittersRCV000422186 RCV002524828

NM_194454.3(KRIT1):c.301G>A (p.Gly101Arg)

SNV
Germline

Chr7:92237721

Conflicting classifications of pathogenicity

Condition: not provided
Cerebral cavernous malformation
KRIT1-related disorder

Criteria Provided
Conflicting Classifications

CA16605918

rs_1057521140

3 SubmittersRCV000427958 RCV002519528 RCV004551445

NM_194454.3(KRIT1):c.729+2T>C

SNV
Germline

Chr7:92235401

Pathogenic

Cerebral cavernous malformation

Criteria Provided
Single Submitter

CA368159247

rs_1554528541

1 SubmittersRCV000593246

NM_194454.3(KRIT1):c.1890G>A (p.Trp630Ter)

SNV
Germline

Chr7:92213330

Pathogenic

not specified
Cerebral cavernous malformation
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA368140091

rs_1554503009

3 SubmittersRCV000506594 RCV000547853 RCV005367359

NM_031443.4(CCM2):c.55C>T (p.Arg19Ter)

SNV
Germline

Chr7:45038277

Pathogenic

Condition: not provided
Cerebral cavernous malformation 2
CCM2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA4246869

rs_755800734

9 SubmittersRCV000517288 RCV000644584 RCV003389649

NM_194454.3(KRIT1):c.486-1G>A

SNV
Germline

Chr7:92235647

Pathogenic

Condition: not provided
Cerebral cavernous malformation

Criteria Provided
Multiple Submitters
No Conflicts

CA368161652

rs_1554529341

2 SubmittersRCV000518796 RCV005235372

NM_194454.3(KRIT1):c.1765A>T (p.Lys589Ter)

SNV
Germline

Chr7:92213945

Pathogenic

Condition: not provided
Cerebral cavernous malformation

Criteria Provided
Multiple Submitters
No Conflicts

CA368141307

rs_1554503702

2 SubmittersRCV000520371 RCV001857981

NM_007217.4(PDCD10):c.558-2A>C

SNV
Germline

Chr3:167684391

Pathogenic

Cerebral cavernous malformation 3

Criteria Provided
Single Submitter

CA355153966

rs_1553758385

1 SubmittersRCV000549105

NM_007217.4(PDCD10):c.474+5G>A

SNV
Germline

Chr3:167687610

Pathogenic/Likely pathogenic

Cerebral cavernous malformation 3
Hemiparesis
Cerebral arteriovenous malformation
Seizure
Cavernous hemangioma
Condition: not provided
Hereditary cavernous hemangioma of brain
PDCD10-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA658657344

rs_1553759139

7 SubmittersRCV000560557 RCV000626904 RCV000721806 RCV003380616 RCV005429025

NM_007217.4(PDCD10):c.322C>T (p.Arg108Ter)

SNV
Germline

Chr3:167695669

Pathogenic

Cerebral cavernous malformation 3
Condition: not provided
PDCD10-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA355154555

rs_1553760900

3 SubmittersRCV000544337 RCV000578740 RCV003419967

NM_007217.4(PDCD10):c.301C>T (p.Gln101Ter)

SNV
Germline

Chr3:167695690

Pathogenic

Cerebral cavernous malformation 3

Criteria Provided
Single Submitter

CA355154601

rs_1303470125

1 SubmittersRCV000531663

NM_194454.3(KRIT1):c.1417C>T (p.Gln473Ter)

SNV
Germline

Chr7:92222048

Pathogenic

Cerebral cavernous malformation

Criteria Provided
Single Submitter

CA368146745

rs_1554513061

1 SubmittersRCV000558177

NM_031443.4(CCM2):c.31-2A>G

SNV
Germline

Chr7:45038251

Likely pathogenic

Cerebral cavernous malformation 2

Criteria Provided
Single Submitter

CA367426497

rs_1554365507

1 SubmittersRCV000550716

NM_194454.3(KRIT1):c.2143-1G>A

SNV
Germline

Chr7:92200805

Pathogenic

Cerebral cavernous malformation

Criteria Provided
Single Submitter

CA368166250

rs_1554489785

1 SubmittersRCV000559834

NM_194454.3(KRIT1):c.990G>A (p.Trp330Ter)

SNV
Germline

Chr7:92226682

Pathogenic

Cerebral cavernous malformation

Criteria Provided
Single Submitter

CA368153913

rs_1554518783

1 SubmittersRCV000526370

NM_194454.3(KRIT1):c.812G>A (p.Trp271Ter)

SNV
Germline

Chr7:92234841

Pathogenic

Cerebral cavernous malformation

Criteria Provided
Single Submitter

CA368158496

rs_1554527779

1 SubmittersRCV000542725

NM_194454.3(KRIT1):c.1A>G (p.Met1Val)

SNV
Germline

Chr7:92242135

Pathogenic/Likely pathogenic

Cerebral cavernous malformation
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA368167328

rs_1554539120

5 SubmittersRCV000536000 RCV000578776

NM_194454.3(KRIT1):c.1201C>T (p.Gln401Ter)

SNV
Germline

Chr7:92225773

Pathogenic

Cerebral cavernous malformation
KRIT1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA368150819

rs_1331502949

2 SubmittersRCV000539490 RCV004553228

NM_194454.3(KRIT1):c.782C>G (p.Ser261Ter)

SNV
Germline

Chr7:92234871

Pathogenic

Cerebral cavernous malformation

Criteria Provided
Single Submitter

CA368158729

rs_1554527817

1 SubmittersRCV000525590

NM_194454.3(KRIT1):c.730-2A>G

SNV
Germline

Chr7:92234925

Pathogenic

Cerebral cavernous malformation

Criteria Provided
Single Submitter

CA368159113

rs_1554527925

1 SubmittersRCV000549458

NM_031443.4(CCM2):c.635T>C (p.Leu212Pro)

SNV
Germline

Chr7:45069851

Likely pathogenic

Cerebral cavernous malformation 2

Criteria Provided
Single Submitter

CA367430545

rs_1554377652

1 SubmittersRCV000550896

NM_194454.3(KRIT1):c.1412-1G>T

SNV
Germline

Chr7:92222054

Pathogenic

Cerebral cavernous malformation

Criteria Provided
Single Submitter

CA368146801

rs_1554513070

1 SubmittersRCV000545634

NM_194454.3(KRIT1):c.1400C>A (p.Ser467Ter)

SNV
Germline

Chr7:92222833

Pathogenic/Likely pathogenic

Condition: not provided
Cerebral cavernous malformation

Criteria Provided
Multiple Submitters
No Conflicts

CA368146961

rs_1554513911

3 SubmittersRCV000578785 RCV000798671

NM_194454.3(KRIT1):c.196C>T (p.Gln66Ter)

SNV
Germline

Chr7:92241059

Pathogenic

Cerebral cavernous malformation
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA4339454

rs_771656368

5 SubmittersRCV000624959 RCV005601047

NM_194454.3(KRIT1):c.902C>G (p.Ser301Ter)

SNV
Germline

Chr7:92234536

Pathogenic

Cavernous hemangioma
Condition: not provided
Cerebral cavernous malformation

Criteria Provided
Multiple Submitters
No Conflicts

CA368157899

rs_1554527169

4 SubmittersRCV000626868 RCV000721907 RCV001007911

NM_007217.4(PDCD10):c.510C>G (p.Tyr170Ter)

SNV
Germline

Chr3:167687281

Pathogenic/Likely pathogenic

Cerebral cavernous malformation 3
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA355154090

rs_1553759059

2 SubmittersRCV000644583 RCV000721809

NM_194454.3(KRIT1):c.730-1G>C

SNV
Germline

Chr7:92234924

Pathogenic/Likely pathogenic

Cerebral cavernous malformation
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA368159107

rs_1554527922

2 SubmittersRCV000644430 RCV000721898

NM_031443.4(CCM2):c.584T>G (p.Leu195Arg)

SNV
Unknown

Chr7:45068554

Likely pathogenic

Cerebral cavernous malformation 2

No Assertion Criteria Provided

CA367430423

rs_1562912426

1 SubmittersRCV000681486

NM_194454.3(KRIT1):c.729+5G>C

SNV
Germline

Chr7:92235398

Likely pathogenic

Cerebral cavernous malformation

Criteria Provided
Single Submitter

CA891842819

rs_1468613071

1 SubmittersRCV000686360

NM_194454.3(KRIT1):c.2152G>A (p.Val718Met)

SNV
Germline

Chr7:92200795

Conflicting classifications of pathogenicity

Cerebral cavernous malformation
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4338932

rs_140952803

2 SubmittersRCV000701994 RCV004026575

NM_194454.3(KRIT1):c.1730+3A>C

SNV
Germline

Chr7:92214608

Pathogenic/Likely pathogenic

Cerebral cavernous malformation
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA891843212

rs_1563244629

5 SubmittersRCV000693414 RCV000721855

NM_007217.4(PDCD10):c.586C>T (p.Arg196Ter)

SNV
Germline

Chr3:167684361

Pathogenic

Condition: not provided
Cerebral cavernous malformation 3

Criteria Provided
Multiple Submitters
No Conflicts

CA355153900

rs_1404676956

4 SubmittersRCV000721812 RCV001236134

NM_007217.4(PDCD10):c.283C>T (p.Arg95Ter)

SNV
Germline

Chr3:167695708

Pathogenic

Condition: not provided
Cerebral cavernous malformation 3
PDCD10-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA355154642

rs_1357917630

5 SubmittersRCV000721801 RCV003141726 RCV004740429

NM_007217.4(PDCD10):c.269-1G>C

SNV
Germline

Chr3:167695723

Likely pathogenic

Condition: not provided
Cerebral cavernous malformation 3

Criteria Provided
Single Submitter

CA355154680

rs_1559952467

2 SubmittersRCV000721799 RCV003227843

NM_031443.4(CCM2):c.30+1G>A

SNV
Germline

Chr7:45000364

Pathogenic

Condition: not provided
Cerebral cavernous malformation 2

Criteria Provided
Multiple Submitters
No Conflicts

CA367423703

rs_1562848479

5 SubmittersRCV000721780 RCV000791931

NM_031443.4(CCM2):c.169A>T (p.Arg57Ter)

SNV
Germline

Chr7:45038391

Pathogenic/Likely pathogenic

Condition: not provided
Cerebral cavernous malformation 2

Criteria Provided
Multiple Submitters
No Conflicts

CA367427221

rs_1562882049

3 SubmittersRCV000721773 RCV001049222

NM_031443.4(CCM2):c.289-1G>A

SNV
Germline

Chr7:45064462

Pathogenic/Likely pathogenic

Condition: not provided
Cerebral cavernous malformation 2

Criteria Provided
Multiple Submitters
No Conflicts

CA367429794

rs_1562907365

2 SubmittersRCV000721777 RCV001868914

NM_031443.4(CCM2):c.568G>A (p.Val190Met)

SNV
Germline

Chr7:45068538

Conflicting classifications of pathogenicity

Condition: not provided
Cerebral cavernous malformation 2

Criteria Provided
Conflicting Classifications

CA4247031

rs_200358025

4 SubmittersRCV000721785 RCV002067077

NM_031443.4(CCM2):c.609G>A (p.Lys203=)

SNV
Germline

Chr7:45068579

Pathogenic/Likely pathogenic

Condition: not provided
Cerebral cavernous malformation 2

Criteria Provided
Multiple Submitters
No Conflicts

CA454888715

rs_1562912528

3 SubmittersRCV000721787 RCV003479207

NM_031443.4(CCM2):c.610-1G>A

SNV
Germline

Chr7:45069825

Pathogenic

Cerebral cavernous malformation 2
Condition: not provided

Criteria Provided
Single Submitter

CA367430486

rs_1562913873

2 SubmittersRCV000002801 RCV000721788

NM_194454.3(KRIT1):c.2092C>T (p.Gln698Ter)

SNV
Germline

Chr7:92201357

Pathogenic

Condition: not provided
Cerebral cavernous malformation

Criteria Provided
Multiple Submitters
No Conflicts

CA368166698

rs_1563211627

2 SubmittersRCV000721875 RCV001239359

NM_194454.3(KRIT1):c.2026-12A>G

SNV
Germline

Chr7:92201435

Pathogenic/Likely pathogenic

Condition: not provided
Cerebral cavernous malformation

Criteria Provided
Multiple Submitters
No Conflicts

CA161930216

rs_1041438637

3 SubmittersRCV000721872 RCV003523019

NM_194454.3(KRIT1):c.2025+2T>C

SNV
Germline

Chr7:92213193

Pathogenic/Likely pathogenic

Condition: not provided
Cerebral cavernous malformation

Criteria Provided
Multiple Submitters
No Conflicts

CA368138957

rs_1563239833

2 SubmittersRCV000721871 RCV005092118

NM_194454.3(KRIT1):c.1988A>G (p.Asn663Ser)

SNV
Germline

Chr7:92213232

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Cerebral cavernous malformation

Criteria Provided
Conflicting Classifications

CA4338990

rs_202120786

5 SubmittersRCV000721868 RCV004782529 RCV005092117

NM_194454.3(KRIT1):c.1927C>T (p.Gln643Ter)

SNV
Germline

Chr7:92213293

Pathogenic/Likely pathogenic

Condition: not provided
Cerebral cavernous malformation

Criteria Provided
Multiple Submitters
No Conflicts

CA368139866

rs_1563240592

3 SubmittersRCV000721867 RCV002067078

NM_194454.3(KRIT1):c.1731-3C>A

SNV
Germline

Chr7:92213982

Conflicting classifications of pathogenicity

Condition: not provided
Cerebral cavernous malformation

Criteria Provided
Conflicting Classifications

CA891862787

rs_1563243075

2 SubmittersRCV000721858 RCV005092115

NM_194454.3(KRIT1):c.1730+5G>A

SNV
Germline

Chr7:92214606

Pathogenic

Condition: not provided
Cerebral cavernous malformation

Criteria Provided
Multiple Submitters
No Conflicts

CA891862789

rs_1563244618

2 SubmittersRCV000721857 RCV003523018

NM_194454.3(KRIT1):c.1563+1G>A

SNV
Germline

Chr7:92221901

Pathogenic

Condition: not provided
Cerebral cavernous malformation

Criteria Provided
Multiple Submitters
No Conflicts

CA4339088

rs_549591728

3 SubmittersRCV000721848 RCV003523017

NM_194454.3(KRIT1):c.1513C>T (p.Gln505Ter)

SNV
Germline

Chr7:92221952

Pathogenic

Condition: not provided
Cerebral cavernous malformation

Criteria Provided
Multiple Submitters
No Conflicts

CA368145820

rs_1563263366

2 SubmittersRCV000721846 RCV001385873

NM_194454.3(KRIT1):c.1412-2A>C

SNV
Germline

Chr7:92222055

Pathogenic

Condition: not provided
Cerebral cavernous malformation

Criteria Provided
Multiple Submitters
No Conflicts

CA368146810

rs_1563264113

3 SubmittersRCV000721841 RCV001071022

NM_194454.3(KRIT1):c.1391G>A (p.Trp464Ter)

SNV
Germline

Chr7:92222842

Pathogenic

Condition: not provided
Cerebral cavernous malformation

Criteria Provided
Multiple Submitters
No Conflicts

CA368147021

rs_1563265959

2 SubmittersRCV000721837 RCV003523016

NM_194454.3(KRIT1):c.1372C>T (p.Gln458Ter)

SNV
Germline

Chr7:92222861

Pathogenic/Likely pathogenic

Condition: not provided
Cerebral cavernous malformation

Criteria Provided
Multiple Submitters
No Conflicts

CA368147158

rs_1563266163

3 SubmittersRCV000721836 RCV001862106

NM_194454.3(KRIT1):c.1255-1G>A

SNV
Germline

Chr7:92222979

Pathogenic

Condition: not provided
Cerebral cavernous malformation

Criteria Provided
Multiple Submitters
No Conflicts

CA368148498

rs_1563267100

2 SubmittersRCV000721828 RCV001385874

NM_194454.3(KRIT1):c.1147-13C>G

SNV
Germline

Chr7:92225840

Pathogenic

Cerebral cavernous malformation
KRIT1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA891862693

rs_779465895

2 SubmittersRCV001038518 RCV004547916

NM_194454.3(KRIT1):c.1114C>T (p.Gln372Ter)

SNV
Germline

Chr7:92226558

Pathogenic/Likely pathogenic

Condition: not provided
Cerebral cavernous malformation

Criteria Provided
Multiple Submitters
No Conflicts

CA368152502

rs_780114710

2 SubmittersRCV000721820 RCV003523015

NM_194454.3(KRIT1):c.880C>T (p.Arg294Ter)

SNV
Germline

Chr7:92234558

Pathogenic

Condition: not provided
Cerebral cavernous malformation

Criteria Provided
Multiple Submitters
No Conflicts

CA4339271

rs_764960797

4 SubmittersRCV000721906 RCV001862108

NM_194454.3(KRIT1):c.845+2T>A

SNV
Germline

Chr7:92234806

Pathogenic/Likely pathogenic

Condition: not provided
Cerebral cavernous malformation

Criteria Provided
Multiple Submitters
No Conflicts

CA368158210

rs_1563302930

2 SubmittersRCV000721903 RCV001241794

NM_194454.3(KRIT1):c.845+1G>A

SNV
Germline

Chr7:92234807

Pathogenic

Condition: not provided
Cerebral cavernous malformation

Criteria Provided
Multiple Submitters
No Conflicts

CA368158223

rs_1563302941

2 SubmittersRCV000721902 RCV001868916

NM_194454.3(KRIT1):c.730-1G>A

SNV
Germline

Chr7:92234924

Pathogenic

Condition: not provided
Cerebral cavernous malformation

Criteria Provided
Multiple Submitters
No Conflicts

CA368159110

rs_1554527922

2 SubmittersRCV000721897 RCV001380231

NM_194454.3(KRIT1):c.729+1G>A

SNV
Germline

Chr7:92235402

Pathogenic/Likely pathogenic

Condition: not provided
Cerebral cavernous malformation

Criteria Provided
Multiple Submitters
No Conflicts

CA368159257

rs_1563305064

4 SubmittersRCV000721896 RCV001211745

NM_194454.3(KRIT1):c.707C>G (p.Ser236Ter)

SNV
Germline

Chr7:92235425

Pathogenic/Likely pathogenic

Condition: not provided
Cerebral cavernous malformation

Criteria Provided
Multiple Submitters
No Conflicts

CA368159449

rs_1563305269

2 SubmittersRCV000721894 RCV006464102

NM_194454.3(KRIT1):c.589A>G (p.Thr197Ala)

SNV
Germline

Chr7:92235543

Conflicting classifications of pathogenicity

Condition: not provided
Cerebral cavernous malformation
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4339340

rs_140396626

5 SubmittersRCV000721890 RCV001862107 RCV002352236

NM_194454.3(KRIT1):c.418C>T (p.Arg140Ter)

SNV
Germline

Chr7:92236480

Pathogenic

Condition: not provided
Cerebral cavernous malformation

Criteria Provided
Multiple Submitters
No Conflicts

CA161911896

rs_866982998

4 SubmittersRCV000721885 RCV005092119

NM_194454.3(KRIT1):c.268C>T (p.Arg90Ter)

SNV
Germline

Chr7:92237754

Pathogenic

Condition: not provided
Cerebral cavernous malformation

Criteria Provided
Multiple Submitters
No Conflicts

CA368164802

rs_1563313372

4 SubmittersRCV000721881 RCV000803135

NM_194454.3(KRIT1):c.264A>G (p.Gly88=)

SNV
Germline

Chr7:92237758

Conflicting classifications of pathogenicity

Condition: not provided
Cerebral cavernous malformation
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA4339424

rs_201877439

4 SubmittersRCV000721880 RCV001425135 RCV003165953 RCV005240507

NM_194454.3(KRIT1):c.489G>A (p.Trp163Ter)

SNV
Germline

Chr7:92235643

Pathogenic/Likely pathogenic

Condition: not provided
Cerebral cavernous malformation

Criteria Provided
Multiple Submitters
No Conflicts

CA368161619

rs_1563307239

2 SubmittersRCV000760856 RCV006612487

NM_007217.4(PDCD10):c.394A>T (p.Lys132Ter)

SNV
Germline

Chr3:167695597

Pathogenic

Cerebral cavernous malformation 3

Criteria Provided
Single Submitter

CA355154393

rs_1577329627

1 SubmittersRCV000804198

NM_031443.4(CCM2):c.30G>A (p.Lys10=)

SNV
Germline

Chr7:45000363

Conflicting classifications of pathogenicity

Cerebral cavernous malformation 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA454908051

rs_1583819255

3 SubmittersRCV000820734 RCV001759606

NM_031443.4(CCM2):c.638T>C (p.Leu213Pro)

SNV
Germline

Chr7:45069854

Conflicting classifications of pathogenicity

Cerebral cavernous malformation 2
Cerebral cavernous malformation

Criteria Provided
Conflicting Classifications

CA367430550

rs_1583983649

2 SubmittersRCV000811720 RCV000991327

NM_194454.3(KRIT1):c.1558A>T (p.Lys520Ter)

SNV
Germline

Chr7:92221907

Pathogenic

Cerebral cavernous malformation

Criteria Provided
Single Submitter

CA368145297

rs_1584873058

1 SubmittersRCV000809461

NM_031443.4(CCM2):c.745+1G>C

SNV
Germline

Chr7:45069962

Pathogenic

Cerebral cavernous malformation 2

Criteria Provided
Single Submitter

CA367430783

rs_1583984070

1 SubmittersRCV000806137

NM_031443.4(CCM2):c.1217C>T (p.Thr406Met)

SNV
Germline

Chr7:45075939

Conflicting classifications of pathogenicity

Cerebral cavernous malformation 2
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4247287

rs_150734280

4 SubmittersRCV001001634 RCV002352529 RCV006440201

NM_031443.4(CCM2):c.1238C>T (p.Ser413Leu)

SNV
Germline

Chr7:45075960

Conflicting classifications of pathogenicity

Cerebral cavernous malformation 2
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4247294

rs_143962510

3 SubmittersRCV001463024 RCV002540020 RCV006435132

NM_194454.3(KRIT1):c.2044A>C (p.Lys682Gln)

SNV
Germline

Chr7:92201405

Conflicting classifications of pathogenicity

Cerebral cavernous malformation
Condition: not provided
Inborn genetic diseases
KRIT1-related disorder
Uterine corpus endometrial carcinoma
Sarcoma
Ovarian serous cystadenocarcinoma

Criteria Provided
Conflicting Classifications

CA4338964

rs_138763545

6 SubmittersRCV000872046 RCV002281141 RCV002416054 RCV004549965 RCV005907111 RCV005907109 RCV005907110

NM_194454.3(KRIT1):c.2068T>C (p.Leu690=)

SNV
Germline

Chr7:92201381

Conflicting classifications of pathogenicity

Condition: not provided
Angiokeratoma corporis diffusum with arteriovenous fistulas
Cerebral cavernous malformation
KRIT1-related disorder

Criteria Provided
Conflicting Classifications

CA4338961

rs_370766145

4 SubmittersRCV000893072 RCV001163712 RCV001163713 RCV004551669

NM_194454.3(KRIT1):c.1938A>G (p.Thr646=)

SNV
Germline

Chr7:92213282

Conflicting classifications of pathogenicity

Condition: not provided
Angiokeratoma corporis diffusum with arteriovenous fistulas
Cerebral cavernous malformation
KRIT1-related disorder

Criteria Provided
Conflicting Classifications

CA4338998

rs_369915828

3 SubmittersRCV000939484 RCV001158794 RCV001158795 RCV004756119

NM_194454.3(KRIT1):c.1400C>T (p.Ser467Leu)

SNV
Germline

Chr7:92222833

Likely pathogenic

Cerebral cavernous malformation

No Assertion Criteria Provided

CA368146965

rs_1554513911

1 SubmittersRCV000985202

NM_007217.4(PDCD10):c.178C>T (p.Gln60Ter)

SNV
Germline

Chr3:167697099

Pathogenic

Cerebral cavernous malformation 3

Criteria Provided
Single Submitter

CA355154901

rs_1720895403

1 SubmittersRCV001055829

NM_031443.4(CCM2):c.354C>A (p.Tyr118Ter)

SNV
Germline

Chr7:45064528

Pathogenic

Cerebral cavernous malformation 2

Criteria Provided
Single Submitter

CA367429937

rs_765548101

1 SubmittersRCV001063501

NM_031443.4(CCM2):c.839C>G (p.Ser280Ter)

SNV
Germline

Chr7:45073495

Pathogenic

Cerebral cavernous malformation 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA367431013

rs_1437280900

2 SubmittersRCV001039626 RCV002511020

NM_031443.4(CCM2):c.970G>T (p.Glu324Ter)

SNV
Germline

Chr7:45074324

Pathogenic

Cerebral cavernous malformation 2

Criteria Provided
Single Submitter

CA367431309

rs_756276859

1 SubmittersRCV001069823

NM_031443.4(CCM2):c.1078A>T (p.Lys360Ter)

SNV
Germline

Chr7:45075800

Pathogenic/Likely pathogenic

Cerebral cavernous malformation 2
CCM2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA367431555

rs_767248510

2 SubmittersRCV001053267 RCV003396677

NM_194454.3(KRIT1):c.2065C>T (p.Gln689Ter)

SNV
Germline

Chr7:92201384

Pathogenic

Cerebral cavernous malformation

Criteria Provided
Single Submitter

CA368166862

rs_1790098079

1 SubmittersRCV001049339

NM_194454.3(KRIT1):c.1392G>A (p.Trp464Ter)

SNV
Germline

Chr7:92222841

Pathogenic

Cerebral cavernous malformation

Criteria Provided
Single Submitter

CA368147016

rs_997111087

1 SubmittersRCV001049427

NM_194454.3(KRIT1):c.535C>T (p.Arg179Ter)

SNV
Germline

Chr7:92235597

Pathogenic

Cerebral cavernous malformation
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA4339349

rs_777198867

5 SubmittersRCV001062410 RCV004720059

NM_194454.3(KRIT1):c.729+1G>T

SNV
Germline

Chr7:92235402

Pathogenic

Cerebral cavernous malformation

Criteria Provided
Single Submitter

CA368159251

rs_1563305064

1 SubmittersRCV001061102

NM_194454.3(KRIT1):c.2142+1G>C

SNV
Germline

Chr7:92201306

Pathogenic

Cerebral cavernous malformation

Criteria Provided
Single Submitter

CA368166348

rs_1790081665

1 SubmittersRCV001050074

NM_194454.3(KRIT1):c.1255-2A>G

SNV
Germline

Chr7:92222980

Pathogenic

Cerebral cavernous malformation
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA368148520

rs_1795437460

3 SubmittersRCV001065715 RCV001289360

NM_031443.4(CCM2):c.7G>T (p.Glu3Ter)

SNV
Germline

Chr7:45000340

Likely pathogenic

Cerebral cavernous malformation 2

Criteria Provided
Single Submitter

CA367423646

rs_1795541254

1 SubmittersRCV001095648

NM_194454.3(KRIT1):c.*46G>A

SNV
Germline

Chr7:92200690

Conflicting classifications of pathogenicity

Angiokeratoma corporis diffusum with arteriovenous fistulas
Cerebral cavernous malformation

Criteria Provided
Conflicting Classifications

CA4338915

rs_369227523

1 SubmittersRCV001163709 RCV001163708

NM_194454.3(KRIT1):c.46C>T (p.Arg16Cys)

SNV
Germline

Chr7:92242090

Conflicting classifications of pathogenicity

Angiokeratoma corporis diffusum with arteriovenous fistulas
Cerebral cavernous malformation
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4339491

rs_370360812

2 SubmittersRCV001160244 RCV001160245 RCV002558516

NM_194454.3(KRIT1):c.846-15C>T

SNV
Germline

Chr7:92234607

Conflicting classifications of pathogenicity

Angiokeratoma corporis diffusum with arteriovenous fistulas
Cerebral cavernous malformation

Criteria Provided
Conflicting Classifications

CA4339278

rs_527439925

1 SubmittersRCV001163816 RCV001163817

NM_194454.3(KRIT1):c.845+10C>G

SNV
Germline

Chr7:92234798

Conflicting classifications of pathogenicity

Angiokeratoma corporis diffusum with arteriovenous fistulas
Cerebral cavernous malformation

Criteria Provided
Conflicting Classifications

CA4339299

rs_372125478

2 SubmittersRCV001163820 RCV001163821

NM_007217.4(PDCD10):c.418G>T (p.Glu140Ter)

SNV
Germline

Chr3:167687671

Pathogenic

Cerebral cavernous malformation 3
Cerebral cavernous malformation

Criteria Provided
Multiple Submitters
No Conflicts

CA355154324

rs_1719762092

5 SubmittersRCV001197013 RCV004783908

NM_031443.4(CCM2):c.745+2T>C

SNV
Germline

Chr7:45069963

Pathogenic

Cerebral cavernous malformation 2

Criteria Provided
Single Submitter

CA367430786

rs_1798979994

1 SubmittersRCV001237427

NM_194454.3(KRIT1):c.1819-1G>A

SNV
Germline

Chr7:92213402

Pathogenic

Cerebral cavernous malformation

Criteria Provided
Single Submitter

CA368140744

rs_1793304372

1 SubmittersRCV001246709

NM_031443.4(CCM2):c.472+1G>C

SNV
Germline

Chr7:45064647

Pathogenic/Likely pathogenic

Cerebral cavernous malformation 2

Criteria Provided
Multiple Submitters
No Conflicts

CA4246987

rs_745710633

2 SubmittersRCV001251154

NM_031443.4(CCM2):c.1061G>A (p.Arg354Lys)

SNV
Germline

Chr7:45075783

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Cerebral cavernous malformation 2

Criteria Provided
Conflicting Classifications

CA4247253

rs_145579135

4 SubmittersRCV001289362 RCV003166623 RCV006557317

NM_194454.3(KRIT1):c.1868G>A (p.Arg623His)

SNV
Germline

Chr7:92213352

Conflicting classifications of pathogenicity

Condition: not provided
Cerebral cavernous malformation
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA4339005

rs_143644029

5 SubmittersRCV001289361 RCV003633583 RCV004035570 RCV006269363

NM_031443.4(CCM2):c.643C>T (p.Gln215Ter)

SNV
Germline

Chr7:45069859

Pathogenic

Cerebral cavernous malformation 2

Criteria Provided
Multiple Submitters
No Conflicts

CA367430559

rs_1798970889

2 SubmittersRCV001332643

NM_031443.4(CCM2):c.160G>A (p.Glu54Lys)

SNV
Germline

Chr7:45038382

Conflicting classifications of pathogenicity

Cerebral cavernous malformation 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4246883

rs_759104121

2 SubmittersRCV001363376 RCV003246944

NM_007217.4(PDCD10):c.558-2A>G

SNV
Germline

Chr3:167684391

Pathogenic

Cerebral cavernous malformation 3

Criteria Provided
Single Submitter

CA355153968

rs_1553758385

1 SubmittersRCV001389091

NM_031443.4(CCM2):c.151G>T (p.Glu51Ter)

SNV
Germline

Chr7:45038373

Pathogenic

Cerebral cavernous malformation 2

Criteria Provided
Single Submitter

CA367427184

rs_2128729177

1 SubmittersRCV001389766

NM_194454.3(KRIT1):c.2113A>T (p.Lys705Ter)

SNV
Germline

Chr7:92201336

Pathogenic

Cerebral cavernous malformation

Criteria Provided
Single Submitter

CA368166565

rs_2131087886

1 SubmittersRCV001387454

NM_194454.3(KRIT1):c.2049T>G (p.Tyr683Ter)

SNV
Germline

Chr7:92201400

Pathogenic

Cerebral cavernous malformation

Criteria Provided
Single Submitter

CA368166927

rs_2131089190

1 SubmittersRCV001388000

NM_194454.3(KRIT1):c.1616T>G (p.Leu539Ter)

SNV
Germline

Chr7:92214725

Pathogenic

Cerebral cavernous malformation

Criteria Provided
Single Submitter

CA368142232

rs_1563245596

1 SubmittersRCV001380341

NM_194454.3(KRIT1):c.1333C>T (p.Gln445Ter)

SNV
Germline

Chr7:92222900

Pathogenic

Cerebral cavernous malformation
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA368147528

rs_2131454006

2 SubmittersRCV001380312 RCV003120592

NM_194454.3(KRIT1):c.1212G>A (p.Trp404Ter)

SNV
Germline

Chr7:92225762

Pathogenic

Cerebral cavernous malformation

Criteria Provided
Single Submitter

CA368150695

rs_2131510638

1 SubmittersRCV001389497

NM_194454.3(KRIT1):c.1162C>T (p.Gln388Ter)

SNV
Germline

Chr7:92225812

Pathogenic

Cerebral cavernous malformation

Criteria Provided
Single Submitter

CA368151191

rs_1796087833

1 SubmittersRCV001385875

NM_194454.3(KRIT1):c.382G>T (p.Gly128Ter)

SNV
Germline

Chr7:92236516

Pathogenic

Cerebral cavernous malformation

Criteria Provided
Single Submitter

CA368162647

rs_2131676374

1 SubmittersRCV001384337

NM_194454.3(KRIT1):c.250C>T (p.Gln84Ter)

SNV
Germline

Chr7:92241005

Pathogenic

Cerebral cavernous malformation

Criteria Provided
Single Submitter

CA4339444

rs_751651833

1 SubmittersRCV001387434

NM_194454.3(KRIT1):c.206T>A (p.Leu69Ter)

SNV
Germline

Chr7:92241049

Pathogenic

Cerebral cavernous malformation

Criteria Provided
Single Submitter

CA368165896

rs_1799516672

1 SubmittersRCV001382706

NM_194454.3(KRIT1):c.1146+1G>T

SNV
Germline

Chr7:92226525

Pathogenic

Condition: not provided
Cerebral cavernous malformation

Criteria Provided
Multiple Submitters
No Conflicts

CA368152180

rs_886039401

2 SubmittersRCV001546377 RCV001859366

NM_194454.3(KRIT1):c.992A>G (p.Tyr331Cys)

SNV
Germline

Chr7:92226680

Pathogenic

Cerebral cavernous malformation

No Assertion Criteria Provided

CA368153898

rs_1350475816

1 SubmittersRCV001844368

NM_000435.3(NOTCH3):c.2960C>G (p.Thr987Ser)

SNV
Germline

Chr19:15180995

Conflicting classifications of pathogenicity

Cerebral cavernous malformation
Condition: not provided
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
Lateral meningocele syndrome
Myofibromatosis, infantile, 2

Criteria Provided
Conflicting Classifications

CA9263227

rs_752995216

3 SubmittersRCV001728074 RCV002032702 RCV002496054

NM_194454.3(KRIT1):c.1664C>T (p.Ala555Val)

SNV
Germline

Chr7:92214677

Pathogenic

Cerebral cavernous malformation
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA368141838

rs_2131326892

3 SubmittersRCV001728076 RCV005622122

NM_194454.3(KRIT1):c.1444C>T (p.Gln482Ter)

SNV
Germline

Chr7:92222021

Pathogenic

Cerebral cavernous malformation

Criteria Provided
Single Submitter

CA368146479

rs_747380313

1 SubmittersRCV001775286

NM_007217.4(PDCD10):c.557+1G>A

SNV
Germline

Chr3:167687233

Pathogenic

Condition: not provided
Cerebral cavernous malformation 3

Criteria Provided
Multiple Submitters
No Conflicts

CA2694534

rs_747383685

2 SubmittersRCV001786740 RCV003600420

NM_031443.4(CCM2):c.298C>T (p.Gln100Ter)

SNV
Germline

Chr7:45064472

Pathogenic

Cerebral cavernous malformation 2

Criteria Provided
Single Submitter

CA367429818

rs_1259805013

1 SubmittersRCV001944784

NM_194454.3(KRIT1):c.1012C>T (p.Arg338Cys)

SNV
Germline

Chr7:92226660

Conflicting classifications of pathogenicity

Cerebral cavernous malformation
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4339230

rs_376805857

3 SubmittersRCV001970327 RCV003170238

NM_194454.3(KRIT1):c.1159C>T (p.Gln387Ter)

SNV
Germline

Chr7:92225815

Pathogenic

Cerebral cavernous malformation

Criteria Provided
Single Submitter

CA368151229

rs_2131511667

1 SubmittersRCV001994524

NM_194454.3(KRIT1):c.102+1G>A

SNV
Germline

Chr7:92242033

Pathogenic

Cerebral cavernous malformation

Criteria Provided
Single Submitter

CA368166964

rs_2131773689

1 SubmittersRCV002037653

NM_194454.3(KRIT1):c.1791G>A (p.Trp597Ter)

SNV
Germline

Chr7:92213919

Pathogenic

Cerebral cavernous malformation

Criteria Provided
Single Submitter

CA368141070

rs_2131316175

1 SubmittersRCV002037712

NM_194454.3(KRIT1):c.1705A>T (p.Lys569Ter)

SNV
Germline

Chr7:92214636

Pathogenic

Cerebral cavernous malformation

Criteria Provided
Single Submitter

CA368141665

rs_2131326255

1 SubmittersRCV001941763

NM_194454.3(KRIT1):c.1400C>G (p.Ser467Ter)

SNV
Germline

Chr7:92222833

Pathogenic

Cerebral cavernous malformation
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA368146963

rs_1554513911

2 SubmittersRCV001961923 RCV005603742

NM_031443.4(CCM2):c.665C>T (p.Thr222Met)

SNV
Germline

Chr7:45069881

Conflicting classifications of pathogenicity

Cerebral cavernous malformation 2
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4247056

rs_370245890

4 SubmittersRCV002017274 RCV002642131 RCV003222377

NM_194454.3(KRIT1):c.707C>A (p.Ser236Ter)

SNV
Germline

Chr7:92235425

Pathogenic

Cerebral cavernous malformation

Criteria Provided
Single Submitter

CA368159460

rs_1563305269

1 SubmittersRCV001919689

NM_031443.4(CCM2):c.744C>T (p.Ser248=)

SNV
Germline

Chr7:45069960

Conflicting classifications of pathogenicity

Cerebral cavernous malformation 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA454890359

rs_1240228560

2 SubmittersRCV001926795 RCV003303423

NM_194454.3(KRIT1):c.1818+1G>A

SNV
Germline

Chr7:92213891

Likely pathogenic

Cerebral cavernous malformation

Criteria Provided
Single Submitter

CA368140838

rs_2131315805

1 SubmittersRCV002004435

NM_194454.3(KRIT1):c.1336C>T (p.Gln446Ter)

SNV
Germline

Chr7:92222897

Pathogenic

Cerebral cavernous malformation
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA368147496

rs_2131453888

2 SubmittersRCV002000050 RCV004697173

NM_194454.3(KRIT1):c.2064G>A (p.Trp688Ter)

SNV
Germline

Chr7:92201385

Pathogenic

Cerebral cavernous malformation

Criteria Provided
Single Submitter

CA368166865

rs_2131088953

1 SubmittersRCV001993373

NM_194454.3(KRIT1):c.596C>G (p.Ser199Ter)

SNV
Germline

Chr7:92235536

Pathogenic

Cerebral cavernous malformation

Criteria Provided
Single Submitter

CA368160719

rs_2131662647

1 SubmittersRCV002007450

NM_007217.4(PDCD10):c.160G>T (p.Glu54Ter)

SNV
Germline

Chr3:167697117

Pathogenic

Cerebral cavernous malformation 3
PDCD10-related disorder

Criteria Provided
Single Submitter

CA355154941

rs_2108409609

2 SubmittersRCV001917956 RCV004741133

NM_031443.4(CCM2):c.473-2A>G

SNV
Germline

Chr7:45068441

Pathogenic

Cerebral cavernous malformation 2

Criteria Provided
Single Submitter

CA367430191

rs_1798890807

1 SubmittersRCV001932653

NM_194454.3(KRIT1):c.1730+1G>A

SNV
Germline

Chr7:92214610

Pathogenic

Cerebral cavernous malformation

Criteria Provided
Single Submitter

CA368141604

rs_2131325903

1 SubmittersRCV001993487

NM_194454.3(KRIT1):c.1211G>A (p.Trp404Ter)

SNV
Germline

Chr7:92225763

Pathogenic

Cerebral cavernous malformation
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA368150697

rs_2131510675

2 SubmittersRCV001953539 RCV005421069

NM_194454.3(KRIT1):c.1027A>T (p.Lys343Ter)

SNV
Germline

Chr7:92226645

Pathogenic

Cerebral cavernous malformation

Criteria Provided
Single Submitter

CA368153460

rs_2131527403

1 SubmittersRCV001951321

NM_007217.4(PDCD10):c.456T>G (p.Tyr152Ter)

SNV
Germline

Chr3:167687633

Pathogenic

Cerebral cavernous malformation 3

Criteria Provided
Single Submitter

CA355154235

rs_976585767

1 SubmittersRCV001956517

NM_031443.4(CCM2):c.1091A>G (p.His364Arg)

SNV
Germline

Chr7:45075813

Conflicting classifications of pathogenicity

Cerebral cavernous malformation 2
Inborn genetic diseases
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA4247260

rs_201559289

4 SubmittersRCV001955131 RCV002442903 RCV003225207 RCV006453822

NM_194454.3(KRIT1):c.1561C>T (p.Gln521Ter)

SNV
Germline

Chr7:92221904

Pathogenic/Likely pathogenic

Cerebral cavernous malformation 1
Cerebral cavernous malformation

Criteria Provided
Multiple Submitters
No Conflicts

CA368145254

rs_2131435199

2 SubmittersRCV002225242 RCV002471259

NM_194454.3(KRIT1):c.1905T>A (p.Tyr635Ter)

SNV
Germline

Chr7:92213315

Pathogenic

Condition: not provided
Cerebral cavernous malformation

Criteria Provided
Multiple Submitters
No Conflicts

CA368139974

rs_140072597

3 SubmittersRCV002244331 RCV004594625

NM_002401.5(MAP3K3):c.1323C>G (p.Ile441Met)

SNV
Somatic

Chr17:63691212

Pathogenic/Likely pathogenic

Verrucous hemangioma
CEREBRAL CAVERNOUS MALFORMATIONS 5, SOMATIC

Criteria Provided
Multiple Submitters
No Conflicts

CA400572507

rs_2143631386

3 SubmittersRCV002254484 RCV004799648

NM_194454.3(KRIT1):c.1564-1G>A

SNV
Germline

Chr7:92214778

Pathogenic

Condition: not provided
Cerebral cavernous malformation

Criteria Provided
Multiple Submitters
No Conflicts

CA368142680

rs_2535727492

2 SubmittersRCV002283110 RCV003523125

NM_194454.3(KRIT1):c.813G>A (p.Trp271Ter)

SNV
Germline

Chr7:92234840

Pathogenic/Likely pathogenic

Cerebral cavernous malformation
Condition: not provided
KRIT1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA368158487

rs_2536012456

3 SubmittersRCV002289378 RCV004591869 RCV004731259

NM_194454.3(KRIT1):c.981T>G (p.Tyr327Ter)

SNV
Germline

Chr7:92234457

Likely pathogenic

Cerebral cavernous malformation

Criteria Provided
Single Submitter

CA368156705

rs_2536003312

1 SubmittersRCV002290168

NM_031443.4(CCM2):c.916-1G>T

SNV
Germline

Chr7:45074269

Likely pathogenic

Cerebral cavernous malformation 2
Malignant tumor of esophagus

Criteria Provided
Single Submitter

CA367431194

rs_2486175038

2 SubmittersRCV002290422 RCV005931689

NM_194454.3(KRIT1):c.1384A>G (p.Thr462Ala)

SNV
Germline

Chr7:92222849

Conflicting classifications of pathogenicity

Inborn genetic diseases
Cerebral cavernous malformation
KRIT1-related disorder
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4339130

rs_141514714

5 SubmittersRCV002381230 RCV003633653 RCV004548289 RCV004801210 RCV006281002

NM_194454.3(KRIT1):c.2025+1G>A

SNV
Germline

Chr7:92213194

Pathogenic

Cerebral cavernous malformation

Criteria Provided
Multiple Submitters
No Conflicts

CA368138963

rs_2535703262

2 SubmittersRCV002468737

NM_194454.3(KRIT1):c.780C>G (p.Tyr260Ter)

SNV
Germline

Chr7:92234873

Pathogenic

Cerebral cavernous malformation

Criteria Provided
Single Submitter

CA368158752

rs_1307397097

1 SubmittersRCV002468738

NM_194454.3(KRIT1):c.857G>A (p.Trp286Ter)

SNV
Germline

Chr7:92234581

Pathogenic

Cerebral cavernous malformation 1

Criteria Provided
Single Submitter

CA368158071

rs_2536005737

1 SubmittersRCV002472008

NM_194454.3(KRIT1):c.406C>T (p.Gln136Ter)

SNV
Germline

Chr7:92236492

Pathogenic

Cerebral cavernous malformation

Criteria Provided
Single Submitter

CA368162458

rs_2536042735

1 SubmittersRCV003037235

NM_194454.3(KRIT1):c.2025+1G>T

SNV
Germline

Chr7:92213194

Pathogenic

Cerebral cavernous malformation

Criteria Provided
Single Submitter

CA368138961

rs_2535703262

1 SubmittersRCV002819546

NM_194454.3(KRIT1):c.2143-2A>T

SNV
Germline

Chr7:92200806

Pathogenic

Cerebral cavernous malformation

Criteria Provided
Single Submitter

CA368166253

rs_2535507304

1 SubmittersRCV002820354

NM_194454.3(KRIT1):c.1249A>T (p.Lys417Ter)

SNV
Germline

Chr7:92225725

Pathogenic

Cerebral cavernous malformation

Criteria Provided
Single Submitter

CA368150320

rs_2535871507

1 SubmittersRCV002881566

NM_194454.3(KRIT1):c.508C>T (p.Gln170Ter)

SNV
Germline

Chr7:92235624

Pathogenic

Cerebral cavernous malformation

Criteria Provided
Single Submitter

CA368161493

rs_1418677221

1 SubmittersRCV002847419

NM_031443.4(CCM2):c.915+2T>C

SNV
Germline

Chr7:45073573

Likely pathogenic

Cerebral cavernous malformation 2

Criteria Provided
Single Submitter

CA367431186

rs_2486170351

1 SubmittersRCV002847141

NM_194454.3(KRIT1):c.1790G>A (p.Trp597Ter)

SNV
Germline

Chr7:92213920

Pathogenic

Cerebral cavernous malformation

Criteria Provided
Single Submitter

CA368141089

rs_2535715547

1 SubmittersRCV002858372

NM_194454.3(KRIT1):c.404T>A (p.Leu135Ter)

SNV
Germline

Chr7:92236494

Pathogenic

Cerebral cavernous malformation

Criteria Provided
Single Submitter

CA368162470

rs_2536042810

1 SubmittersRCV002866991

NM_194454.3(KRIT1):c.1377A>G (p.Gln459=)

SNV
Germline

Chr7:92222856

Conflicting classifications of pathogenicity

Cerebral cavernous malformation

Criteria Provided
Conflicting Classifications

CA4339132

rs_775375977

2 SubmittersRCV002998966

NM_007217.4(PDCD10):c.97-1G>A

SNV
Germline

Chr3:167704896

Pathogenic

Cerebral cavernous malformation 3

Criteria Provided
Single Submitter

CA355155091

rs_1314521430

1 SubmittersRCV003024334

NM_007217.4(PDCD10):c.557+1G>T

SNV
Germline

Chr3:167687233

Pathogenic

Cerebral cavernous malformation 3

Criteria Provided
Single Submitter

CA355153979

rs_747383685

1 SubmittersRCV003035801

NM_007217.4(PDCD10):c.208A>T (p.Lys70Ter)

SNV
Germline

Chr3:167697069

Pathogenic

Cerebral cavernous malformation 3

Criteria Provided
Multiple Submitters
No Conflicts

CA355154826

rs_2475731521

2 SubmittersRCV003120126

NM_194454.3(KRIT1):c.646A>T (p.Lys216Ter)

SNV
Germline

Chr7:92235486

Pathogenic

Cerebral cavernous malformation

Criteria Provided
Single Submitter

CA368160184

rs_1563305909

1 SubmittersRCV003224698

NM_194454.3(KRIT1):c.1688A>G (p.Tyr563Cys)

SNV
Germline

Chr7:92214653

Conflicting classifications of pathogenicity

Inborn genetic diseases
Cerebral cavernous malformation

Criteria Provided
Conflicting Classifications

CA4339059

rs_756158170

2 SubmittersRCV003253673 RCV003456314

NM_031443.4(CCM2):c.338T>C (p.Leu113Pro)

SNV
Germline

Chr7:45064512

Pathogenic

Cerebral cavernous malformation 2
Condition: not provided

Criteria Provided
Single Submitter

CA367429905

rs_2486112288

2 SubmittersRCV003319556 RCV004593261

NM_031443.4(CCM2):c.593T>C (p.Leu198Pro)

SNV
Germline

Chr7:45068563

Pathogenic

Cerebral cavernous malformation 2

No Assertion Criteria Provided

CA367430442

rs_137852843

1 SubmittersRCV003319557

NM_031443.4(CCM2):c.365T>G (p.Leu122Arg)

SNV
Germline

Chr7:45064539

Pathogenic

Cerebral cavernous malformation 2

No Assertion Criteria Provided

CA367429960

rs_2486112668

1 SubmittersRCV003319558

NM_031443.4(CCM2):c.367G>C (p.Ala123Pro)

SNV
Germline

Chr7:45064541

Pathogenic

Cerebral cavernous malformation 2

No Assertion Criteria Provided

CA367429965

rs_2486112694

1 SubmittersRCV003319559

NM_031443.4(CCM2):c.204+8G>A

SNV
Germline

Chr7:45038434

Conflicting classifications of pathogenicity

Condition: not provided
Cerebral cavernous malformation 2

Criteria Provided
Conflicting Classifications

CA4246889

rs_376855404

2 SubmittersRCV003322098 RCV005102899

NM_007217.4(PDCD10):c.396-2A>G

SNV
Germline

Chr3:167687695

Pathogenic

Condition: not provided
Cerebral cavernous malformation 3

Criteria Provided
Multiple Submitters
No Conflicts

CA355154382

rs_1559945126

2 SubmittersRCV003328847 RCV005871133

NM_194454.3(KRIT1):c.292C>T (p.Pro98Ser)

SNV
Germline

Chr7:92237730

Conflicting classifications of pathogenicity

Inborn genetic diseases
Cerebral cavernous malformation

Criteria Provided
Conflicting Classifications

CA4339421

rs_199905288

2 SubmittersRCV003356305 RCV005104071

NM_194454.3(KRIT1):c.1564-2A>T

SNV
Germline

Chr7:92214779

Likely pathogenic

Cerebral cavernous malformation

Criteria Provided
Single Submitter

CA368142687

rs_2535727506

1 SubmittersRCV003387583

NM_031443.4(CCM2):c.803+1G>A

SNV
Germline

Chr7:45072784

Likely pathogenic

Cerebral cavernous malformation 2

Criteria Provided
Single Submitter

CA367430926

rs_1350848319

1 SubmittersRCV003388501

NM_031443.4(CCM2):c.1193C>A (p.Ser398Tyr)

SNV
Germline

Chr7:45075915

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Cerebral cavernous malformation 2

Criteria Provided
Conflicting Classifications

CA4247280

rs_750632206

3 SubmittersRCV003443284 RCV005310987 RCV005100090

NM_194454.3(KRIT1):c.891T>A (p.Cys297Ter)

SNV
Germline

Chr7:92234547

Pathogenic

Cerebral cavernous malformation

Criteria Provided
Single Submitter

CA368157927

rs_2536004935

1 SubmittersRCV003523949

NM_194454.3(KRIT1):c.486-1G>T

SNV
Germline

Chr7:92235647

Pathogenic

Cerebral cavernous malformation

Criteria Provided
Single Submitter

CA368161646

rs_1554529341

1 SubmittersRCV003524026

NM_031443.4(CCM2):c.31-1G>C

SNV
Germline

Chr7:45038252

Likely pathogenic

Cerebral cavernous malformation 2

Criteria Provided
Single Submitter

CA367426507

rs_2485984699

1 SubmittersRCV003498787

NM_194454.3(KRIT1):c.847G>T (p.Glu283Ter)

SNV
Germline

Chr7:92234591

Pathogenic

Cerebral cavernous malformation

Criteria Provided
Single Submitter

CA368158126

rs_2536005944

1 SubmittersRCV003524200

NM_007217.4(PDCD10):c.396-2A>C

SNV
Germline

Chr3:167687695

Pathogenic

Cerebral cavernous malformation 3

Criteria Provided
Single Submitter

CA355154383

rs_1559945126

1 SubmittersRCV003499784

NM_194454.3(KRIT1):c.1261A>T (p.Lys421Ter)

SNV
Germline

Chr7:92222972

Pathogenic

Cerebral cavernous malformation

Criteria Provided
Single Submitter

CA368148417

rs_2535833397

1 SubmittersRCV003523653

NM_031443.4(CCM2):c.652C>T (p.Gln218Ter)

SNV
Germline

Chr7:45069868

Pathogenic

Cerebral cavernous malformation 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA367430580

rs_2486144500

2 SubmittersRCV003499941 RCV004719349

NM_194454.3(KRIT1):c.2025G>C (p.Lys675Asn)

SNV
Germline

Chr7:92213195

Likely pathogenic

Cerebral cavernous malformation

Criteria Provided
Single Submitter

CA368138965

rs_2535703286

1 SubmittersRCV003525294

NM_194454.3(KRIT1):c.1905T>G (p.Tyr635Ter)

SNV
Germline

Chr7:92213315

Pathogenic

Cerebral cavernous malformation
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA368139972

rs_140072597

2 SubmittersRCV003525296 RCV004719351

NM_194454.3(KRIT1):c.1877T>A (p.Leu626Ter)

SNV
Germline

Chr7:92213343

Pathogenic

Cerebral cavernous malformation

Criteria Provided
Single Submitter

CA368140204

rs_2535706411

1 SubmittersRCV003525297

NM_194454.3(KRIT1):c.1498C>T (p.Gln500Ter)

SNV
Germline

Chr7:92221967

Pathogenic

Cerebral cavernous malformation

Criteria Provided
Single Submitter

CA4339094

rs_569733779

1 SubmittersRCV003525298

NM_194454.3(KRIT1):c.601C>T (p.Gln201Ter)

SNV
Germline

Chr7:92235531

Pathogenic

Cerebral cavernous malformation

Criteria Provided
Single Submitter

CA368160660

rs_137853140

1 SubmittersRCV003525301

NM_194454.3(KRIT1):c.2030T>A (p.Leu677Ter)

SNV
Germline

Chr7:92201419

Pathogenic

Cerebral cavernous malformation

Criteria Provided
Single Submitter

CA368167024

rs_2535518733

1 SubmittersRCV003524788

NM_031443.4(CCM2):c.30+5G>T

SNV
Germline

Chr7:45000368

Likely pathogenic

Cerebral cavernous malformation 2

Criteria Provided
Single Submitter

CA4246819

rs_773187380

1 SubmittersRCV003498580

NM_194454.3(KRIT1):c.1732G>T (p.Glu578Ter)

SNV
Germline

Chr7:92213978

Pathogenic

Cerebral cavernous malformation

Criteria Provided
Single Submitter

CA368141527

rs_2535716674

1 SubmittersRCV003634822

NM_194454.3(KRIT1):c.1423A>T (p.Lys475Ter)

SNV
Germline

Chr7:92222042

Pathogenic

Cerebral cavernous malformation

Criteria Provided
Single Submitter

CA368146690

rs_2535820956

1 SubmittersRCV003634928

NM_194454.3(KRIT1):c.729+2T>G

SNV
Germline

Chr7:92235401

Pathogenic

Cerebral cavernous malformation

Criteria Provided
Single Submitter

CA368159244

rs_1554528541

1 SubmittersRCV003635123

NM_031443.4(CCM2):c.499C>T (p.Gln167Ter)

SNV
Germline

Chr7:45068469

Pathogenic

Cerebral cavernous malformation 2

Criteria Provided
Single Submitter

CA367430253

rs_2486135403

1 SubmittersRCV003605337

NM_194454.3(KRIT1):c.1549G>T (p.Glu517Ter)

SNV
Germline

Chr7:92221916

Pathogenic

Cerebral cavernous malformation

Criteria Provided
Single Submitter

CA368145433

rs_2535818867

1 SubmittersRCV003635347

NM_194454.3(KRIT1):c.916C>T (p.Arg306Cys)

SNV
Germline

Chr7:92234522

Conflicting classifications of pathogenicity

Inborn genetic diseases
Cerebral cavernous malformation

Criteria Provided
Conflicting Classifications

CA4339267

rs_146328341

2 SubmittersRCV004412154 RCV005104509

NM_194454.3(KRIT1):c.2044A>T (p.Lys682Ter)

SNV
Germline

Chr7:92201405

Pathogenic

Cerebral cavernous malformation

Criteria Provided
Single Submitter

1 SubmittersRCV004720205

NM_031443.4(CCM2):c.289-2A>G

SNV
Germline

Chr7:45064461

Pathogenic

Cerebral cavernous malformation 2

Criteria Provided
Single Submitter

1 SubmittersRCV004720551

NM_194454.3(KRIT1):c.479T>A (p.Leu160Ter)

SNV
Unknown

Chr7:92236419

Likely pathogenic

Cerebral cavernous malformation

Criteria Provided
Single Submitter

1 SubmittersRCV004759488

NM_031443.4(CCM2):c.475C>T (p.Gln159Ter)

SNV
Germline

Chr7:45068445

Pathogenic

Condition: not provided
Cerebral cavernous malformation 2

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005001544 RCV005112517

NM_031443.4(CCM2):c.204+1G>A

SNV
Germline

Chr7:45038427

Pathogenic

Cerebral cavernous malformation 2

Criteria Provided
Single Submitter

1 SubmittersRCV005069250

NM_194454.3(KRIT1):c.2026-1G>C

SNV
Germline

Chr7:92201424

Pathogenic

Cerebral cavernous malformation

Criteria Provided
Single Submitter

1 SubmittersRCV005126800

NM_194454.3(KRIT1):c.142A>T (p.Lys48Ter)

SNV
Germline

Chr7:92241113

Pathogenic

Cerebral cavernous malformation

Criteria Provided
Single Submitter

1 SubmittersRCV005125781

NM_007217.4(PDCD10):c.558-1G>A

SNV
Germline

Chr3:167684390

Pathogenic

Cerebral cavernous malformation 3

Criteria Provided
Single Submitter

1 SubmittersRCV005139137

NM_194454.3(KRIT1):c.1810G>T (p.Glu604Ter)

SNV
Germline

Chr7:92213900

Pathogenic

Cerebral cavernous malformation

Criteria Provided
Single Submitter

1 SubmittersRCV005135957

NM_007217.4(PDCD10):c.456T>A (p.Tyr152Ter)

SNV
Germline

Chr3:167687633

Pathogenic

Cerebral cavernous malformation 3

Criteria Provided
Single Submitter

1 SubmittersRCV005201660

NM_194454.3(KRIT1):c.1611T>A (p.Tyr537Ter)

SNV
Germline

Chr7:92214730

Pathogenic

Cerebral cavernous malformation

Criteria Provided
Single Submitter

1 SubmittersRCV005200629

NM_194454.3(KRIT1):c.1289C>G (p.Ser430Ter)

SNV
Germline

Chr7:92222944

Pathogenic

Cerebral cavernous malformation

Criteria Provided
Single Submitter

1 SubmittersRCV005200630

NM_031443.4(CCM2):c.745+1G>T

SNV
Germline

Chr7:45069962

Pathogenic

Cerebral cavernous malformation 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005199054 RCV005255817

NM_194454.3(KRIT1):c.1135G>T (p.Glu379Ter)

SNV
Germline

Chr7:92226537

Pathogenic

Cerebral cavernous malformation

Criteria Provided
Single Submitter

1 SubmittersRCV005199055

NM_031443.4(CCM2):c.609+2T>C

SNV
Germline

Chr7:45068581

Likely pathogenic

Cerebral cavernous malformation 2

Criteria Provided
Single Submitter

1 SubmittersRCV005195793

NM_194454.3(KRIT1):c.1648A>T (p.Lys550Ter)

SNV
Germline

Chr7:92214693

Likely pathogenic

Cerebral cavernous malformation

Criteria Provided
Single Submitter

1 SubmittersRCV005252266

NM_031443.4(CCM2):c.473-1G>T

SNV
Germline

Chr7:45068442

Pathogenic

Condition: not provided
Cerebral cavernous malformation 2

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005256177 RCV006489487

NM_194454.3(KRIT1):c.1411+1G>A

SNV
Unknown

Chr7:92222821

Likely pathogenic

Cerebral cavernous malformation

Criteria Provided
Single Submitter

1 SubmittersRCV005257938

NM_194454.3(KRIT1):c.1446A>G (p.Gln482=)

SNV
Germline

Chr7:92222019

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Cerebral cavernous malformation

Criteria Provided
Conflicting Classifications

3 SubmittersRCV006280134 RCV006363523 RCV006613772

NM_194454.3(KRIT1):c.486-2A>T

SNV
Germline

Chr7:92235648

Pathogenic

Cerebral cavernous malformation

Criteria Provided
Single Submitter

1 SubmittersRCV006512880

NM_194454.3(KRIT1):c.1237G>T (p.Glu413Ter)

SNV
Germline

Chr7:92225737

Pathogenic

Cerebral cavernous malformation

Criteria Provided
Single Submitter

1 SubmittersRCV006496746

NM_194454.3(KRIT1):c.1889G>A (p.Trp630Ter)

SNV
Germline

Chr7:92213331

Pathogenic

Cerebral cavernous malformation

Criteria Provided
Single Submitter

1 SubmittersRCV006500889

NM_194454.3(KRIT1):c.1600G>T (p.Glu534Ter)

SNV
Germline

Chr7:92214741

Pathogenic

Cerebral cavernous malformation

Criteria Provided
Single Submitter

1 SubmittersRCV006511195

NM_194454.3(KRIT1):c.2023A>T (p.Lys675Ter)

SNV
Germline

Chr7:92213197

Pathogenic

Cerebral cavernous malformation

Criteria Provided
Single Submitter

1 SubmittersRCV006520996

NM_194454.3(KRIT1):c.1052T>G (p.Leu351Ter)

SNV
Germline

Chr7:92226620

Pathogenic

Cerebral cavernous malformation

Criteria Provided
Single Submitter

1 SubmittersRCV006516490

NM_194454.3(KRIT1):c.703G>A (p.Gly235Arg)

SNV
Germline

Chr7:92235429

Likely pathogenic

Cerebral cavernous malformation

Criteria Provided
Single Submitter

1 SubmittersRCV006522274