| - GRCh37:
- Chr20:42788829
- GRCh38:
- Chr20:44160189
| JPH2 | F200V | Primary dilated cardiomyopathy | Uncertain significance (Jun 1, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr11:47370005
- GRCh38:
- Chr11:47348454
| MYBPC3 | D248Y | Primary dilated cardiomyopathy | Uncertain significance (Jun 1, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:10720540
- GRCh38:
- Chr1:10660483
| CASZ1 | G187S | Primary dilated cardiomyopathy | Uncertain significance (Jun 1, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr2:179641264
- GRCh38:
- Chr2:178776537
| TTN | T1730N, T1776N | Primary dilated cardiomyopathy | Uncertain significance (Jun 1, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr14:23869994
- GRCh38:
- Chr14:23400785
| MYH6 | N445S | Primary dilated cardiomyopathy | Uncertain significance (Jun 1, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr14:23857492
- GRCh38:
- Chr14:23388283
| MYH6 | A1411T | Primary dilated cardiomyopathy | Uncertain significance (Jun 1, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr18:28671017
- GRCh38:
- Chr18:31091054
| DSC2 | G150S, G7S | Primary dilated cardiomyopathy | Uncertain significance (Jun 1, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38647480
- GRCh38:
- Chr3:38605989
| SCN5A | F434I | Primary dilated cardiomyopathy | Uncertain significance (Jun 1, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr18:32418720
- GRCh38:
- Chr18:34838756
| DTNA | S104fs, S392fs, S395fs, S422fs | Primary dilated cardiomyopathy | Likely pathogenic (Jun 1, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr19:49671243
- GRCh38:
- Chr19:49167986
| TRPM4 | R113C | Primary dilated cardiomyopathy | Uncertain significance (Jun 1, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr17:48262919
- GRCh38:
- Chr17:50185558
| COL1A1 | V1447F | Primary dilated cardiomyopathy | Uncertain significance (Jun 1, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr18:25565705
- GRCh38:
- Chr18:27985741
| CDH2 | T557A, T588A | Primary dilated cardiomyopathy | Uncertain significance (Jun 1, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr3:119585439
- GRCh38:
- Chr3:119866592
| GSK3B | R316W | Primary dilated cardiomyopathy | Uncertain significance (Jun 1, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr2:234343502
- GRCh38:
- Chr2:233434856
| DGKD | R137C, R181C, R48C | Primary dilated cardiomyopathy | Uncertain significance (Jun 1, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr2:179643673
- GRCh38:
- Chr2:178778946
| LOC101927055, TTN | L1333S, L1379S | Primary dilated cardiomyopathy | Uncertain significance (Jun 1, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:74808579
- GRCh38:
- Chr1:74342895
| FPGT-TNNI3K, TNNI3K | G246R, G347R | Primary dilated cardiomyopathy | Uncertain significance (Jun 1, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr10:121431912
- GRCh38:
- Chr10:119672400
| BAG3 | R218L | Primary dilated cardiomyopathy | Uncertain significance (Jun 1, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr2:179485032
- GRCh38:
- Chr2:178620305
| TTN | D12838N, D13765N, D15406N, D6341N, D6466N, D6533N | Primary dilated cardiomyopathy | Uncertain significance (Jun 1, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr18:19751805
- GRCh38:
- Chr18:22171844
| GATA6 | P234fs | Primary dilated cardiomyopathy | Likely pathogenic (Jun 1, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr15:48829887
- GRCh38:
- Chr15:48537690
| FBN1 | H219Q | Primary dilated cardiomyopathy | Likely pathogenic (Jun 1, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr2:179410540-179410543
- GRCh38:
- Chr2:178545813-178545816
| TTN, TTN-AS1 | | Primary dilated cardiomyopathy | Likely pathogenic (Jul 21, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr2:179407147
- GRCh38:
- Chr2:178542420
| TTN, TTN-AS1 | G23381*, G23506*, G23573*, G29878*, G30805*, G32446* | Primary dilated cardiomyopathy | Likely pathogenic (Jul 21, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr2:179400903-179400919
- GRCh38:
- Chr2:178536176-178536192
| TTN, TTN-AS1 | V24454fs, V24579fs, V24646fs, V30951fs, V31878fs, V33519fs | Primary dilated cardiomyopathy | Likely pathogenic (Jul 21, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr2:179398396
- GRCh38:
- Chr2:178533669
| TTN, TTN-AS1 | Y25251fs, Y25376fs, Y25443fs, Y31748fs, Y32675fs, Y34316fs | Primary dilated cardiomyopathy | Likely pathogenic (Jul 21, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr2:179396885
- GRCh38:
- Chr2:178532158
| TTN, TTN-AS1 | Y25754*, Y25879*, Y25946*, Y32251*, Y33178*, Y34819* | Primary dilated cardiomyopathy | Likely pathogenic (Jul 21, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr10:121436214-121436221
- GRCh38:
- Chr10:119676702-119676709
| BAG3 | S385fs | Primary dilated cardiomyopathy | Pathogenic (Jul 21, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr7:128483603-128483604
- GRCh38:
- Chr7:128843549-128843550
| FLNC | T929fs | Primary dilated cardiomyopathy | Likely pathogenic (Jul 21, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr6:7580038
- GRCh38:
- Chr6:7579805
| DSP | | Primary dilated cardiomyopathy | Likely pathogenic (Jul 21, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr6:7575705
- GRCh38:
- Chr6:7575472
| DSP | K872* | Primary dilated cardiomyopathy | Likely pathogenic (Jul 21, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr3:38662416-38662417
- GRCh38:
- Chr3:38620925-38620926
| SCN5A | L177fs | Primary dilated cardiomyopathy | Likely pathogenic (Jul 21, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr17:39919440-39919441
- GRCh38:
- Chr17:41763188-41763189
| JUP | Q431fs | Primary dilated cardiomyopathy | Likely pathogenic (Jul 21, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr3:38595805
- GRCh38:
- Chr3:38554314
| SCN5A | I1539T, I1574T, I1575T, I1592T, I1593T | Primary dilated cardiomyopathy | Likely pathogenic (Jul 21, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr2:179644139
- GRCh38:
- Chr2:178779412
| LOC101927055, TTN | Y1214*, Y1260* | Primary dilated cardiomyopathy | Likely pathogenic (Jul 21, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr2:179636031
- GRCh38:
- Chr2:178771304
| TTN | R2629*, R2675* | Primary dilated cardiomyopathy | Likely pathogenic (Jul 21, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr2:179602846
- GRCh38:
- Chr2:178738119
| TTN | Y3534*, Y4415*, Y4461*, Y4540*, Y4607*, Y4778* | Primary dilated cardiomyopathy | Likely pathogenic (Jul 21, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr2:179495832
- GRCh38:
- Chr2:178631105
| TTN | L12080*, L13007*, L14648*, L5583*, L5708*, L5775* | Primary dilated cardiomyopathy | Likely pathogenic (Jul 21, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr2:179484414
- GRCh38:
- Chr2:178619687
| TTN, TTN-AS1 | R12976fs, R13903fs, R15544fs, R6479fs, R6604fs, R6671fs | Primary dilated cardiomyopathy | Likely pathogenic (Jul 21, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr2:179483518
- GRCh38:
- Chr2:178618791
| TTN, TTN-AS1 | M13019fs, M13946fs, M15587fs, M6522fs, M6647fs, M6714fs | Primary dilated cardiomyopathy | Likely pathogenic (Jul 21, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr2:179481938
- GRCh38:
- Chr2:178617211
| TTN, TTN-AS1 | N13360fs, N14287fs, N15928fs, N6863fs, N6988fs, N7055fs | Primary dilated cardiomyopathy | Likely pathogenic (Jul 21, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr2:179475726-179475727
- GRCh38:
- Chr2:178610999-178611000
| TTN, TTN-AS1 | V14476fs, V15403fs, V17044fs, V7979fs, V8104fs, V8171fs | Primary dilated cardiomyopathy | Likely pathogenic (Jul 21, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr2:179474951
- GRCh38:
- Chr2:178610224
| TTN, TTN-AS1 | E14533fs, E15460fs, E17101fs, E8036fs, E8161fs, E8228fs | Primary dilated cardiomyopathy | Likely pathogenic (Jul 21, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr14:23886714
- GRCh38:
- Chr14:23417505
| MHRT, MYH7 | K1451E | Primary dilated cardiomyopathy | Likely pathogenic (Jul 21, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr2:179470416
- GRCh38:
- Chr2:178605689
| TTN, TTN-AS1 | L15301fs, L16228fs, L17869fs, L8804fs, L8929fs, L8996fs | Primary dilated cardiomyopathy | Likely pathogenic (Jul 21, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr2:179463544-179463545
- GRCh38:
- Chr2:178598817-178598818
| TTN, TTN-AS1 | A10025fs, A10092fs, A16397fs, A17324fs, A18965fs, A9900fs | Primary dilated cardiomyopathy | Likely pathogenic (Jul 21, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr2:179457658-179457660
- GRCh38:
- Chr2:178592931-178592933
| TTN, TTN-AS1 | R10664fs, R10789fs, R10856fs, R17161fs, R18088fs, R19729fs | Primary dilated cardiomyopathy | Likely pathogenic (Jul 21, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr2:179451368-179451369
- GRCh38:
- Chr2:178586641-178586642
| TTN, TTN-AS1 | V12356fs, V12481fs, V12548fs, V18853fs, V19780fs, V21421fs | Primary dilated cardiomyopathy | Likely pathogenic (Jul 21, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr2:179447710-179447711
- GRCh38:
- Chr2:178582983-178582984
| TTN, TTN-AS1 | N12875fs, N13000fs, N13067fs, N19372fs, N20299fs, N21940fs | Primary dilated cardiomyopathy | Likely pathogenic (Jul 21, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr2:179443880-179443881
- GRCh38:
- Chr2:178579153-178579154
| LOC126806423, TTN, TTN-AS1 | K13561fs, K13686fs, K13753fs, K20058fs, K20985fs, K22626fs | Primary dilated cardiomyopathy | Likely pathogenic (Jul 21, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr2:179440814
- GRCh38:
- Chr2:178576087
| LOC126806422, TTN, TTN-AS1 | E14284*, E14409*, E14476*, E20781*, E21708*, E23349* | Primary dilated cardiomyopathy | Likely pathogenic (Jul 21, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr2:179438428
- GRCh38:
- Chr2:178573701
| TTN, TTN-AS1 | W15079*, W15204*, W15271*, W21576*, W22503*, W24144* | Primary dilated cardiomyopathy | Likely pathogenic (Jul 21, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr2:179436617
- GRCh38:
- Chr2:178571890
| TTN, TTN-AS1 | T15683fs, T15808fs, T15875fs, T22180fs, T23107fs, T24748fs | Primary dilated cardiomyopathy | Likely pathogenic (Jul 21, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr2:179436485-179436486
- GRCh38:
- Chr2:178571758-178571759
| TTN, TTN-AS1 | | Primary dilated cardiomyopathy | Likely pathogenic (Jul 21, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr1:201331130
- GRCh38:
- Chr1:201362002
| TNNT2 | K167N, K194N, K195N, K197N, K199N, K200N, K207N, K210N | Primary dilated cardiomyopathy | Likely pathogenic (Jul 21, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr2:179436299
- GRCh38:
- Chr2:178571572
| TTN, TTN-AS1 | T15789fs, T15914fs, T15981fs, T22286fs, T23213fs, T24854fs | Primary dilated cardiomyopathy | Likely pathogenic (Jul 21, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr2:179431788-179431789
- GRCh38:
- Chr2:178567061-178567062
| TTN, TTN-AS1 | Y17292fs, Y17417fs, Y17484fs, Y23789fs, Y24716fs, Y26357fs | Primary dilated cardiomyopathy | Likely pathogenic (Jul 21, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr2:179430460-179430461
- GRCh38:
- Chr2:178565733-178565734
| TTN, TTN-AS1 | M17735fs, M17860fs, M17927fs, M24232fs, M25159fs, M26800fs | Primary dilated cardiomyopathy | Likely pathogenic (Jul 21, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr2:179430446
- GRCh38:
- Chr2:178565719
| TTN, TTN-AS1 | E17740fs, E17865fs, E17932fs, E24237fs, E25164fs, E26805fs | Primary dilated cardiomyopathy | Likely pathogenic (Jul 21, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr2:179427518-179427519
- GRCh38:
- Chr2:178562791-178562792
| TTN, TTN-AS1 | K18715fs, K18840fs, K18907fs, K25212fs, K26139fs, K27780fs | Primary dilated cardiomyopathy | Likely pathogenic (Jul 21, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr2:179426102
- GRCh38:
- Chr2:178561375
| TTN, TTN-AS1 | C19188fs, C19313fs, C19380fs, C25685fs, C26612fs, C28253fs | Primary dilated cardiomyopathy | Likely pathogenic (Jul 21, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr2:179424691
- GRCh38:
- Chr2:178559964
| TTN, TTN-AS1 | F19658fs, F19783fs, F19850fs, F26155fs, F27082fs, F28723fs | Primary dilated cardiomyopathy | Likely pathogenic (Jul 21, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr2:179424037
- GRCh38:
- Chr2:178559310
| TTN, TTN-AS1 | | Primary dilated cardiomyopathy | Likely pathogenic (Jul 21, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr2:179422374
- GRCh38:
- Chr2:178557647
| TTN, TTN-AS1 | | Primary dilated cardiomyopathy | Likely pathogenic (Jul 21, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr2:179414945-179414952
- GRCh38:
- Chr2:178550218-178550225
| TTN, TTN-AS1 | I21473fs, I21598fs, I21665fs, I27970fs, I28897fs, I30538fs | Primary dilated cardiomyopathy | Likely pathogenic (Jul 21, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr1:201331108
- GRCh38:
- Chr1:201361980
| TNNT2 | K175E, K202E, K203E, K205E, K207E, K208E, K215E, K218E | Primary dilated cardiomyopathy | Likely pathogenic (Jul 21, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr10:115366042
- GRCh38:
- Chr10:113606283
| NRAP | | Primary dilated cardiomyopathy | Uncertain significance (Oct 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:132228794
- GRCh38:
- Chr5:132893102
| AFF4 | R775P | Primary dilated cardiomyopathy, Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome | Uncertain significance (Jun 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:105977828
- GRCh38:
- Chr2:105361371
| C2orf49, FHL2 | C137S, C143S, C251S | Primary dilated cardiomyopathy | Uncertain significance (Nov 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:186444496-186456588
| PDLIM3 | | Primary dilated cardiomyopathy, Hypertrophic cardiomyopathy | Uncertain significance (Aug 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19864628-19883124
| TXNRD2 | | Primary dilated cardiomyopathy | Uncertain significance (Dec 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:21120120
- GRCh38:
- Chr10:20831191
| NEBL | | Primary dilated cardiomyopathy | Uncertain significance (Mar 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:21147285
- GRCh38:
- Chr10:20858356
| NEBL | | Primary dilated cardiomyopathy | Likely benign (Jan 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:186425729
- GRCh38:
- Chr4:185504575
| PDLIM3 | A181fs, A102fs, A269fs, A221fs | Primary dilated cardiomyopathy, Hypertrophic cardiomyopathy | Uncertain significance (May 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:21102962
- GRCh38:
- Chr10:20814033
| NEBL | T751I | Primary dilated cardiomyopathy | Uncertain significance (Oct 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:21129782
- GRCh38:
- Chr10:20840853
| NEBL | | Primary dilated cardiomyopathy | Likely benign (May 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:186435412
- GRCh38:
- Chr4:185514258
| LOC126807246, PDLIM3 | | Primary dilated cardiomyopathy, Hypertrophic cardiomyopathy | Likely benign (May 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:21074831
- GRCh38:
- Chr10:20785902
| NEBL | D201N, D184N, D204N, D220N, D964N, R219Q, D198N, D251N | Primary dilated cardiomyopathy | Uncertain significance (May 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:21115365
- GRCh38:
- Chr10:20826436
| NEBL | | Primary dilated cardiomyopathy | Likely benign (Oct 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:186425683
- GRCh38:
- Chr4:185504529
| PDLIM3 | G196D, G236D, G117D, G284D | Inborn genetic diseases, Primary dilated cardiomyopathy, Hypertrophic cardiomyopathy
| Uncertain significance (Jun 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:21106510
- GRCh38:
- Chr10:20817581
| LOC126860875, NEBL | | Primary dilated cardiomyopathy | Likely benign (Sep 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:21076158-21076166
- GRCh38:
- Chr10:20787229-20787237
| NEBL | | Primary dilated cardiomyopathy | Uncertain significance (Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:105990129
- GRCh38:
- Chr2:105373672
| C2orf49, FHL2 | N73S | Primary dilated cardiomyopathy | Uncertain significance (Mar 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19868220
- GRCh38:
- Chr22:19880697
| TXNRD2 | | Primary dilated cardiomyopathy, Cardiovascular phenotype | Likely benign (Feb 12, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:105984011
- GRCh38:
- Chr2:105367554
| C2orf49, FHL2 | | Primary dilated cardiomyopathy | Likely benign (Dec 13, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19918560
- GRCh38:
- Chr22:19931037
| TXNRD2 | | Primary dilated cardiomyopathy | Likely benign (Sep 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:186425635
- GRCh38:
- Chr4:185504481
| PDLIM3 | G212D, G300D, G133D, G252D | Primary dilated cardiomyopathy, Hypertrophic cardiomyopathy | Uncertain significance (Oct 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:21108357
- GRCh38:
- Chr10:20819428
| NEBL | S684N | Primary dilated cardiomyopathy | Uncertain significance (Aug 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:186444577
- GRCh38:
- Chr4:185523423
| PDLIM3 | P90L | Primary dilated cardiomyopathy, Hypertrophic cardiomyopathy, Inborn genetic diseases
| Uncertain significance (Mar 16, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:21120505
- GRCh38:
- Chr10:20831576
| NEBL | Y486C | Primary dilated cardiomyopathy, Inborn genetic diseases | Uncertain significance (May 11, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:19885644
- GRCh38:
- Chr22:19898121
| TXNRD2 | L231P, L199P, L201P, L135P, L230P | Primary dilated cardiomyopathy | Uncertain significance (Jul 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:21124462
- GRCh38:
- Chr10:20835533
| NEBL | A477T | Primary dilated cardiomyopathy | Uncertain significance (Aug 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:21178871
- GRCh38:
- Chr10:20889942
| NEBL | Y54C | Primary dilated cardiomyopathy | Uncertain significance (Oct 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:105990139
- GRCh38:
- Chr2:105373682
| C2orf49, FHL2 | Q70E | Primary dilated cardiomyopathy | Uncertain significance (Dec 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:21097474
- GRCh38:
- Chr10:20808545
| NEBL | C909Y | Primary dilated cardiomyopathy | Uncertain significance (Oct 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:21124477
- GRCh38:
- Chr10:20835548
| NEBL | Q472* | Primary dilated cardiomyopathy | Uncertain significance (Jul 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19864703-19864704
- GRCh38:
- Chr22:19877180-19877181
| TXNRD2 | C499*, C404*, C470*, C500* | Primary dilated cardiomyopathy | Uncertain significance (Feb 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:186425659
- GRCh38:
- Chr4:185504505
| PDLIM3 | P292L, P125L, P204L, P244L | Primary dilated cardiomyopathy, Hypertrophic cardiomyopathy, Inborn genetic diseases
| Uncertain significance (Oct 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:19870832
- GRCh38:
- Chr22:19883309
| TXNRD2 | | Primary dilated cardiomyopathy | Likely benign (May 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:21112151
- GRCh38:
- Chr10:20823222
| NEBL | K650E | Primary dilated cardiomyopathy | Uncertain significance (Aug 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:186435412
- GRCh38:
- Chr4:185514258
| LOC126807246, PDLIM3 | | Primary dilated cardiomyopathy, Hypertrophic cardiomyopathy | Likely benign (Feb 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:21074756
- GRCh38:
- Chr10:20785827
| NEBL | D223N, D276N, D226N, D229N, D209N, D245N, D989N | Primary dilated cardiomyopathy | Uncertain significance (Mar 23, 2022) | criteria provided, single submitter |