| - GRCh37:
- Chr19:55663224
- GRCh38:
- Chr19:55151856
| TNNI3 | R204L | Cardiomyopathy | Likely pathogenic (Jun 19, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr11:47358988-47358989
- GRCh38:
- Chr11:47337437-47337438
| MYBPC3 | G853fs | Cardiomyopathy | Pathogenic (May 18, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128488734
- GRCh38:
- Chr7:128848680
| FLNC | D1568fs | Cardiomyopathy | Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr14:23901031
- GRCh38:
- Chr14:23431822
| MYH7 | Q193R | Cardiomyopathy | Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr14:104027180-104027181
- GRCh38:
- Chr14:103560843-103560844
| BAG5 | K108fs | Cardiomyopathy | Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr11:47356592
- GRCh38:
- Chr11:47335041
| MYBPC3 | | Cardiomyopathy | Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr2:179431049-179431050
- GRCh38:
- Chr2:178566322-178566323
| TTN-AS1, TTN | V17539fs, V17664fs, V17731fs, V24036fs, V24963fs, V26604fs | Cardiomyopathy | Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr14:23884343
- GRCh38:
- Chr14:23415134
| MYH7 | G1807fs | Cardiomyopathy | Uncertain significance (Nov 26, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:78408164
- GRCh38:
- Chr1:77942479
| NEXN | E496Q, E560Q | Cardiomyopathy | Uncertain significance (Aug 13, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:78407761
- GRCh38:
- Chr1:77942076
| NEXN | | Cardiomyopathy | Likely benign (Sep 21, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:78401527
- GRCh38:
- Chr1:77935842
| NEXN | T360N, T424N | Cardiomyopathy | Uncertain significance (Jun 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:75877872
- GRCh38:
- Chr10:74118114
| VCL | R1049Q, R1117Q | Cardiomyopathy | Uncertain significance (Aug 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:63354799
- GRCh38:
- Chr15:63062600
| TPM1 | E207K, E243K, E285K | Cardiomyopathy | Uncertain significance (Oct 18, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:47372960
- GRCh38:
- Chr11:47351409
| MYBPC3 | R41L | Cardiomyopathy | Uncertain significance (Oct 8, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:47364180
- GRCh38:
- Chr11:47342629
| MYBPC3 | Y525fs | Cardiomyopathy | Likely pathogenic (Sep 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:47356732
- GRCh38:
- Chr11:47335181
| MYBPC3 | | Cardiomyopathy | Likely benign (Aug 10, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:47356599-47356600
- GRCh38:
- Chr11:47335048-47335049
| MYBPC3 | | Cardiomyopathy | Uncertain significance (Sep 13, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:47354806-47354810
- GRCh38:
- Chr11:47333255-47333259
| MYBPC3 | P1089fs | Cardiomyopathy | Likely pathogenic (Aug 7, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:47354450
- GRCh38:
- Chr11:47332899
| MYBPC3 | | Cardiomyopathy | Likely benign (Jun 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:47354383-47354384
- GRCh38:
- Chr11:47332832-47332833
| MYBPC3 | V1158fs | Cardiomyopathy | Likely pathogenic (Jun 23, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:47353810-47356592
- GRCh38:
- Chr11:47332259-47335041
| MYBPC3 | | Cardiomyopathy | Pathogenic (Nov 18, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:47353420
- GRCh38:
- Chr11:47331869
| MYBPC3 | | Cardiomyopathy | Uncertain significance (Oct 26, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38645331
- GRCh38:
- Chr3:38603840
| SCN5A | H588Y | Cardiomyopathy | Uncertain significance (Oct 22, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:35084457-35084468
- GRCh38:
- Chr15:34792256-34792267
| GJD2-DT, ACTC1 | | Cardiomyopathy | Uncertain significance (Nov 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr12:33049443
- GRCh38:
- Chr12:32896509
| PKP2 | G75* | Cardiomyopathy | Likely pathogenic (Oct 12, 2021) | criteria provided, single submitter |
| - GRCh38:
- Chr12:32843315-32868927
| PKP2 | | Cardiomyopathy | Likely pathogenic (Jul 16, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr12:32955419-32955420
- GRCh38:
- Chr12:32802485-32802486
| PKP2 | H695fs, H739fs | Cardiomyopathy | Likely pathogenic (Aug 11, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:30907998-30907999
- GRCh38:
- Chr16:30896677-30896678
| CTF1 | | Cardiomyopathy | Likely benign (Jun 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr18:29115333
- GRCh38:
- Chr18:31535370
| DSG2 | Q461E | Cardiomyopathy | Uncertain significance (Jun 9, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr14:23898460
- GRCh38:
- Chr14:23429251
| MYH7 | T412N | Cardiomyopathy | Uncertain significance (Jun 18, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr14:23896978
- GRCh38:
- Chr14:23427769
| MYH7 | N568K | Cardiomyopathy | Uncertain significance (Nov 10, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr14:23891504
- GRCh38:
- Chr14:23422295
| MYH7 | V1044M | Cardiomyopathy | Uncertain significance (Oct 5, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:236902646
- GRCh38:
- Chr1:236739346
| ACTN2 | | Cardiomyopathy | Likely benign (Jun 4, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:220286242
- GRCh38:
- Chr2:219421520
| DES | I258F, I312F, I379F, I395F, I401F, I402F | Cardiomyopathy | Uncertain significance (Oct 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:220283410-220283412
- GRCh38:
- Chr2:219418688-219418690
| DES | T77del | Cardiomyopathy | Uncertain significance (Oct 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr12:21995408
- GRCh38:
- Chr12:21842474
| ABCC9 | | Cardiomyopathy | Uncertain significance (Jul 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:19209860
- GRCh38:
- Chr11:19188313
| CSRP3 | | Cardiomyopathy | Uncertain significance (Jun 3, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr18:29116254
- GRCh38:
- Chr18:31536291
| DSG2 | T505A | Cardiomyopathy | Uncertain significance (Dec 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:179643752
- GRCh38:
- Chr2:178779025
| LOC101927055, TTN | V1307L, V1353L | Cardiomyopathy | Uncertain significance (Oct 13, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:179635300
- GRCh38:
- Chr2:178770573
| TTN | W2694*, W2740* | Cardiomyopathy | Likely pathogenic (Nov 15, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:179606027
- GRCh38:
- Chr2:178741300
| TTN | L3615R, L3661R, L3740R, L3807R, L3978R | Cardiomyopathy | Uncertain significance (Sep 8, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:179599199
- GRCh38:
- Chr2:178734472
| TTN | S3874R, S4801R, S5118R | Cardiomyopathy | Uncertain significance (Oct 25, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:179594867
- GRCh38:
- Chr2:178730140
| LOC126806430, TTN | S4843N, S5770N, S6087N | Cardiomyopathy | Uncertain significance (Jun 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:179593838
- GRCh38:
- Chr2:178729111
| LOC126806430, TTN | | Cardiomyopathy | Likely benign (Jul 21, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:179591944
- GRCh38:
- Chr2:178727217
| LOC126806429, TTN | M5472I, M6399I, M6716I | Cardiomyopathy | Uncertain significance (Aug 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:179583108
- GRCh38:
- Chr2:178718381
| TTN | S6998N, S7925N, S8242N | Cardiomyopathy | Uncertain significance (Aug 9, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:179579783
- GRCh38:
- Chr2:178715056
| TTN | | Cardiomyopathy | Likely benign (Oct 25, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:179560921
- GRCh38:
- Chr2:178696194
| TTN | Q10293R, Q9049R, Q9976R | Cardiomyopathy | Likely benign (Aug 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:179557268-179557269
- GRCh38:
- Chr2:178692541-178692542
| TTN | A10228fs, A10545fs, A9301fs | Cardiomyopathy | Uncertain significance (Sep 3, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:179544685-179544687
- GRCh38:
- Chr2:178679958-178679960
| TTN | E10855del, E11172del, E9928del | Cardiomyopathy | Uncertain significance (Nov 29, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:179527750
- GRCh38:
- Chr2:178663023
| TTN | P10506A, P11433A, P12245A | Cardiomyopathy | Uncertain significance (Jun 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:179517225
- GRCh38:
- Chr2:178652498
| TTN | | Cardiomyopathy | Likely benign (Sep 13, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:179517071
- GRCh38:
- Chr2:178652344
| TTN | P10610H, P11537H, P13044H | Cardiomyopathy | Uncertain significance (Sep 13, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:179517030
- GRCh38:
- Chr2:178652303
| TTN | V10624M, V11551M, V13058M | Cardiomyopathy | Uncertain significance (Oct 22, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:179497991
- GRCh38:
- Chr2:178633264
| TTN | H11769fs, H12696fs, H14337fs, H5272fs, H5397fs, H5464fs | Cardiomyopathy | Uncertain significance (Nov 9, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:179481306
- GRCh38:
- Chr2:178616579
| TTN, TTN-AS1 | S13503*, S14430*, S16071*, S7006*, S7131*, S7198* | Cardiomyopathy | Likely pathogenic (Nov 4, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:179479649
- GRCh38:
- Chr2:178614922
| LOC126806426, TTN, TTN-AS1 | V13661M, V14588M, V16229M, V7164M, V7289M, V7356M | Cardiomyopathy | Uncertain significance (Nov 16, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:179474978
- GRCh38:
- Chr2:178610251
| TTN-AS1, TTN | R14524K, R15451K, R17092K, R8027K, R8152K, R8219K | Cardiomyopathy | Likely benign (Oct 13, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:179464473
- GRCh38:
- Chr2:178599746
| TTN, TTN-AS1 | F16151L, F17078L, F18719L, F9654L, F9779L, F9846L | Cardiomyopathy | Likely benign (Oct 13, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:179462731
- GRCh38:
- Chr2:178598004
| TTN, TTN-AS1 | G10116*, G10183*, G16488*, G17415*, G19056*, G9991* | Cardiomyopathy | Likely pathogenic (Oct 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:179457903
- GRCh38:
- Chr2:178593176
| TTN-AS1, TTN | I10613V, I10738V, I10805V, I17110V, I18037V, I19678V | Cardiomyopathy | Uncertain significance (Sep 17, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:179455997
- GRCh38:
- Chr2:178591270
| TTN, TTN-AS1 | T11087I, T11212I, T11279I, T17584I, T18511I, T20152I | Cardiomyopathy | Uncertain significance (Sep 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:179455499
- GRCh38:
- Chr2:178590772
| TTN, TTN-AS1 | V11253A, V11378A, V11445A, V17750A, V18677A, V20318A | Cardiomyopathy | Uncertain significance (Aug 16, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:179455280
- GRCh38:
- Chr2:178590553
| TTN, TTN-AS1 | V11326E, V11451E, V11518E, V17823E, V18750E, V20391E | Cardiomyopathy | Uncertain significance (Aug 26, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:179451927
- GRCh38:
- Chr2:178587200
| TTN, TTN-AS1 | | Cardiomyopathy | Likely benign (Oct 13, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:179451388
- GRCh38:
- Chr2:178586661
| TTN, TTN-AS1 | R12349C, R12474C, R12541C, R18846C, R19773C, R21414C | Cardiomyopathy | Uncertain significance (Jun 23, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:179449807
- GRCh38:
- Chr2:178585080
| TTN, TTN-AS1 | V12490A, V12615A, V12682A, V18987A, V19914A, V21555A | Cardiomyopathy | Uncertain significance (Jun 3, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:179447733-179447734
- GRCh38:
- Chr2:178583006-178583007
| TTN, TTN-AS1 | D12868fs, D12993fs, D13060fs, D19365fs, D20292fs, D21933fs | Cardiomyopathy | Likely pathogenic (Nov 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:179446466-179446467
- GRCh38:
- Chr2:178581739-178581740
| TTN, TTN-AS1 | W13112fs, W13237fs, W13304fs, W19609fs, W20536fs, W22177fs | Cardiomyopathy | Likely pathogenic (Jun 18, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:179443706
- GRCh38:
- Chr2:178578979
| LOC126806423, TTN, TTN-AS1 | R13619K, R13744K, R13811K, R20116K, R21043K, R22684K | Cardiomyopathy | Uncertain significance (Aug 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:179440883
- GRCh38:
- Chr2:178576156
| LOC126806422, TTN, TTN-AS1 | E14261K, E14386K, E14453K, E20758K, E21685K, E23326K | Cardiomyopathy | Uncertain significance (Sep 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:179436118
- GRCh38:
- Chr2:178571391
| TTN, TTN-AS1 | T15849I, T15974I, T16041I, T22346I, T23273I, T24914I | Cardiomyopathy | Uncertain significance (Sep 9, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:179435716
- GRCh38:
- Chr2:178570989
| TTN, TTN-AS1 | L15983S, L16108S, L16175S, L22480S, L23407S, L25048S | Cardiomyopathy | Uncertain significance (Jun 8, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:179434823
- GRCh38:
- Chr2:178570096
| TTN, TTN-AS1 | K16281*, K16406*, K16473*, K22778*, K23705*, K25346* | Cardiomyopathy | Uncertain significance (Aug 10, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:179434083
- GRCh38:
- Chr2:178569356
| TTN, TTN-AS1 | | Cardiomyopathy | Likely benign (Nov 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:179431135
- GRCh38:
- Chr2:178566408
| TTN, TTN-AS1 | T17510I, T17635I, T17702I, T24007I, T24934I, T26575I | Cardiomyopathy | Likely benign (Sep 22, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:179430111
- GRCh38:
- Chr2:178565384
| TTN, TTN-AS1 | | Cardiomyopathy | Likely benign (Aug 16, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:179428736
- GRCh38:
- Chr2:178564009
| TTN, TTN-AS1 | G18310R, G18435R, G18502R, G24807R, G25734R, G27375R | Cardiomyopathy | Uncertain significance (Oct 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:179428322
- GRCh38:
- Chr2:178563595
| TTN, TTN-AS1 | G18448R, G18573R, G18640R, G24945R, G25872R, G27513R | Cardiomyopathy | Uncertain significance (Jun 4, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:179427947
- GRCh38:
- Chr2:178563220
| TTN, TTN-AS1 | E18573fs, E18698fs, E18765fs, E25070fs, E25997fs, E27638fs | Cardiomyopathy | Likely pathogenic (Sep 21, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr18:29175111
- GRCh38:
- Chr18:31595148
| TTR | L78fs | Cardiomyopathy | Uncertain significance (Dec 6, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:179415858
- GRCh38:
- Chr2:178551131
| TTN, TTN-AS1 | R21402P, R21527P, R21594P, R27899P, R28826P, R30467P | Cardiomyopathy | Uncertain significance (Sep 24, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:179414051
- GRCh38:
- Chr2:178549324
| TTN, TTN-AS1 | K21703E, K21828E, K21895E, K28200E, K29127E, K30768E | Cardiomyopathy | Uncertain significance (Jun 23, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:179410243-179410244
- GRCh38:
- Chr2:178545516-178545517
| TTN, TTN-AS1 | D22800fs, D22925fs, D22992fs, D29297fs, D30224fs, D31865fs | Cardiomyopathy | Likely pathogenic (Sep 24, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:179404842
- GRCh38:
- Chr2:178540115
| TTN, TTN-AS1 | G23619D, G23744D, G23811D, G30116D, G31043D, G32684D | Cardiomyopathy | Uncertain significance (Jun 16, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:179399662
- GRCh38:
- Chr2:178534935
| TTN, TTN-AS1 | F24829L, F24954L, F25021L, F31326L, F32253L, F33894L | Cardiomyopathy | Uncertain significance (Nov 19, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:179398570
- GRCh38:
- Chr2:178533843
| TTN, TTN-AS1 | P25193T, P25318T, P25385T, P31690T, P32617T, P34258T | Cardiomyopathy | Uncertain significance (Jul 22, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:179398432
- GRCh38:
- Chr2:178533705
| TTN, TTN-AS1 | D25239N, D25364N, D25431N, D31736N, D32663N, D34304N | Cardiomyopathy | Uncertain significance (Aug 16, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:179397940
- GRCh38:
- Chr2:178533213
| TTN, TTN-AS1 | E25403K, E25528K, E25595K, E31900K, E32827K, E34468K | Cardiomyopathy | Uncertain significance (Nov 8, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:179393616
- GRCh38:
- Chr2:178528889
| TTN, TTN-AS1 | G26556A, G26681A, G26748A, G33053A, G33980A, G35621A | Cardiomyopathy | Uncertain significance (Jun 29, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:47369455-47369456
- GRCh38:
- Chr11:47347904-47347905
| MYBPC3 | | Cardiomyopathy | Likely pathogenic (Dec 29, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:78383848
- GRCh38:
- Chr1:77918163
| LOC126805765, NEXN | R113G, R49G | Cardiomyopathy | Uncertain significance (Feb 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:75867092
- GRCh38:
- Chr10:74107334
| VCL | P847A | Cardiomyopathy | Uncertain significance (May 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:7581027
- GRCh38:
- Chr6:7580794
| DSP | L1535P | Cardiomyopathy | Uncertain significance (May 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:7565612-7565613
- GRCh38:
- Chr6:7565379-7565380
| DSP | N274fs | Cardiomyopathy | Likely pathogenic (Apr 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:47371600
- GRCh38:
- Chr11:47350049
| MYBPC3 | F157Y | Cardiomyopathy | Uncertain significance (Feb 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:47367831
- GRCh38:
- Chr11:47346280
| MYBPC3 | | Cardiomyopathy | Uncertain significance (May 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:47364847
- GRCh38:
- Chr11:47343296
| MYBPC3 | | Cardiomyopathy | Likely benign (Feb 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:47363654
- GRCh38:
- Chr11:47342103
| MYBPC3 | D560H | Cardiomyopathy | Uncertain significance (Feb 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:47363566
- GRCh38:
- Chr11:47342015
| MYBPC3 | R589L | Cardiomyopathy | Uncertain significance (Feb 22, 2022) | criteria provided, single submitter |