| - GRCh37:
- Chr5:137222901
- GRCh38:
- Chr5:137887212
| MYOT, PKD2L2-DT | | Myofibrillar myopathy 3 | Uncertain significance (Jan 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137222955
- GRCh38:
- Chr5:137887266
| MYOT, PKD2L2-DT | F276L, F345L, F460L | Myofibrillar myopathy 3, Inborn genetic diseases, not provided
| Uncertain significance (Sep 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:137223031
- GRCh38:
- Chr5:137887342
| MYOT, PKD2L2-DT | R301H, R370H, R485H | Myofibrillar myopathy 3 | Uncertain significance (Jul 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137222943
- GRCh38:
- Chr5:137887254
| MYOT, PKD2L2-DT | V341I, V272I, V456I | Myofibrillar myopathy 3 | Uncertain significance (Jul 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137219239
- GRCh38:
- Chr5:137883550
| MYOT, PKD2L2-DT | R328K, R144K, R213K | Myofibrillar myopathy 3 | Uncertain significance (Jun 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137221753
- GRCh38:
- Chr5:137886064
| MYOT, PKD2L2-DT | | Myofibrillar myopathy 3 | Likely benign (Jan 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137221830
- GRCh38:
- Chr5:137886141
| MYOT, PKD2L2-DT | S189L, S258L, S373L | Myofibrillar myopathy 3 | Uncertain significance (Jul 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137219122
- GRCh38:
- Chr5:137883433
| MYOT, PKD2L2-DT | T105R, T174R, T289R | not provided, Myofibrillar myopathy 3 | Uncertain significance (Sep 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:137206458
- GRCh38:
- Chr5:137870769
| MYOT, PKD2L2-DT | I40V | Myofibrillar myopathy 3 | Uncertain significance (Dec 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137222656
- GRCh38:
- Chr5:137886967
| MYOT, PKD2L2-DT | T317S, T248S, T432S | not provided, not specified, Myofibrillar myopathy 3
| Uncertain significance (Jun 26, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:137211525
- GRCh38:
- Chr5:137875836
| MYOT, PKD2L2-DT | Q7*, Q122* | Myofibrillar myopathy 3 | Uncertain significance (Apr 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137221825
- GRCh38:
- Chr5:137886136
| MYOT, PKD2L2-DT | Q187H, Q256H, Q371H | Myofibrillar myopathy 3 | Uncertain significance (May 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137216562
- GRCh38:
- Chr5:137880873
| MYOT, PKD2L2-DT | | Myofibrillar myopathy 3 | Likely benign (Jun 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137216538
- GRCh38:
- Chr5:137880849
| MYOT, PKD2L2-DT | P108S, P223S, P39S | Myofibrillar myopathy 3 | Uncertain significance (Apr 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137217687
- GRCh38:
- Chr5:137881998
| MYOT, PKD2L2-DT | V237M, V122M, V53M | Myofibrillar myopathy 3 | Uncertain significance (Apr 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137223014-137223016
- GRCh38:
- Chr5:137887325-137887327
| MYOT, PKD2L2-DT | E480del, E365del, E296del | Myofibrillar myopathy 3 | Uncertain significance (Apr 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137222993-137222994
- GRCh38:
- Chr5:137887304-137887305
| MYOT, PKD2L2-DT | V289fs, V473fs, V358fs | Myofibrillar myopathy 3 | Uncertain significance (Jun 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137219140
- GRCh38:
- Chr5:137883451
| MYOT, PKD2L2-DT | L180W, L295W, L111W | Myofibrillar myopathy 3 | Uncertain significance (Mar 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137221887
- GRCh38:
- Chr5:137886198
| PKD2L2-DT, MYOT | N208S, N277S, N392S | Myofibrillar myopathy 3 | Uncertain significance (Mar 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137206393
- GRCh38:
- Chr5:137870704
| MYOT, PKD2L2-DT | G18V | Myofibrillar myopathy 3 | Uncertain significance (Feb 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137206658
- GRCh38:
- Chr5:137870969
| MYOT, PKD2L2-DT | D106E | Myofibrillar myopathy 3 | Uncertain significance (Jun 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137219262
- GRCh38:
- Chr5:137883573
| MYOT, PKD2L2-DT | V152L, V221L, V336L | Myofibrillar myopathy 3 | Uncertain significance (Jul 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137219228
- GRCh38:
- Chr5:137883539
| MYOT, PKD2L2-DT | | Myofibrillar myopathy 3 | Likely benign (Jul 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137206389
- GRCh38:
- Chr5:137870700
| MYOT, PKD2L2-DT | C17S | Myofibrillar myopathy 3 | Uncertain significance (Feb 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137206496
- GRCh38:
- Chr5:137870807
| MYOT, PKD2L2-DT | | Myofibrillar myopathy 3 | Likely benign (Mar 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137221920
- GRCh38:
- Chr5:137886231
| MYOT, PKD2L2-DT | | Myofibrillar myopathy 3 | Likely benign (Apr 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137211630
- GRCh38:
- Chr5:137875941
| MYOT, PKD2L2-DT | | Myofibrillar myopathy 3 | Likely benign (Feb 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137221879
- GRCh38:
- Chr5:137886190
| MYOT, PKD2L2-DT | | Myofibrillar myopathy 3 | Likely benign (Feb 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137217668
- GRCh38:
- Chr5:137881979
| MYOT, PKD2L2-DT | | Myofibrillar myopathy 3 | Likely benign (Jul 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137217658-137217663
- GRCh38:
- Chr5:137881969-137881974
| MYOT, PKD2L2-DT | | Myofibrillar myopathy 3 | Uncertain significance (Oct 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137219191
- GRCh38:
- Chr5:137883502
| MYOT, PKD2L2-DT | V197A, V312A, V128A | Myofibrillar myopathy 3 | Uncertain significance (Jun 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137206356
- GRCh38:
- Chr5:137870667
| MYOT, PKD2L2-DT | R6C | Myofibrillar myopathy 3 | Uncertain significance (May 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137217651
- GRCh38:
- Chr5:137881962
| MYOT, PKD2L2-DT | | Myofibrillar myopathy 3 | Likely benign (Aug 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137211685
- GRCh38:
- Chr5:137875996
| MYOT, PKD2L2-DT | G60V, G175V | Myofibrillar myopathy 3 | Uncertain significance (Jun 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137222685
- GRCh38:
- Chr5:137886996
| MYOT, PKD2L2-DT | | Myofibrillar myopathy 3 | Uncertain significance (Sep 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137213209
- GRCh38:
- Chr5:137877520
| MYOT, PKD2L2-DT | R178C, R63C | Inborn genetic diseases, Myofibrillar myopathy 3 | Uncertain significance (Apr 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:137217810
- GRCh38:
- Chr5:137882121
| MYOT, PKD2L2-DT | | Myofibrillar myopathy 3 | Likely benign (Aug 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137213291
- GRCh38:
- Chr5:137877602
| MYOT, PKD2L2-DT | S205T, S21T, S90T | Myofibrillar myopathy 3 | Uncertain significance (Jul 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137222593
- GRCh38:
- Chr5:137886904
| MYOT, PKD2L2-DT | K296Q, K411Q, K227Q | Myofibrillar myopathy 3 | Uncertain significance (Jun 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137217659
- GRCh38:
- Chr5:137881970
| MYOT, PKD2L2-DT | | Myofibrillar myopathy 3 | Uncertain significance (Aug 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137206474
- GRCh38:
- Chr5:137870785
| MYOT, PKD2L2-DT | R45H | Myofibrillar myopathy 3 | Uncertain significance (May 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137217692
- GRCh38:
- Chr5:137882003
| MYOT, PKD2L2-DT | | Myofibrillar myopathy 3 | Likely benign (Jul 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137222684
- GRCh38:
- Chr5:137886995
| PKD2L2-DT, MYOT | T441M, T257M, T326M | Myofibrillar myopathy 3 | Uncertain significance (Feb 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137222680
- GRCh38:
- Chr5:137886991
| MYOT, PKD2L2-DT | V256I, V325I, V440I | Myofibrillar myopathy 3 | Uncertain significance (Jun 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137206579
- GRCh38:
- Chr5:137870890
| MYOT, PKD2L2-DT | N80S | Myofibrillar myopathy 3 | Uncertain significance (Aug 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137219285
- GRCh38:
- Chr5:137883596
| MYOT, PKD2L2-DT | | Myofibrillar myopathy 3 | Uncertain significance (Aug 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137217669
- GRCh38:
- Chr5:137881980
| MYOT, PKD2L2-DT | S116P, S231P, S47P | Myofibrillar myopathy 3 | Uncertain significance (Jun 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137222904
- GRCh38:
- Chr5:137887215
| MYOT, PKD2L2-DT | R328G, R443G, R259G | Myofibrillar myopathy 3 | Uncertain significance (Apr 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137206477
- GRCh38:
- Chr5:137870788
| MYOT, PKD2L2-DT | Q46R | Myofibrillar myopathy 3 | Uncertain significance (Aug 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137211499
- GRCh38:
- Chr5:137875810
| MYOT, PKD2L2-DT | | Myofibrillar myopathy 3 | Likely benign (Oct 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137222905
- GRCh38:
- Chr5:137887216
| MYOT, PKD2L2-DT | R443H, R259H, R328H | Myofibrillar myopathy 3 | Uncertain significance (Aug 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137221880
- GRCh38:
- Chr5:137886191
| MYOT, PKD2L2-DT | Q275*, Q390*, Q206* | Myofibrillar myopathy 3 | Uncertain significance (Aug 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137213210
- GRCh38:
- Chr5:137877521
| MYOT, PKD2L2-DT | R63L, R178L | Myofibrillar myopathy 3 | Uncertain significance (Aug 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137217793
- GRCh38:
- Chr5:137882104
| MYOT, PKD2L2-DT | K157T, K272T, K88T | Myofibrillar myopathy 3 | Uncertain significance (Sep 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137217703
- GRCh38:
- Chr5:137882014
| PKD2L2-DT, MYOT | A127V, A242V, A58V | Myofibrillar myopathy 3 | Uncertain significance (Sep 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137223031
- GRCh38:
- Chr5:137887342
| MYOT, PKD2L2-DT | R301L, R370L, R485L | Myofibrillar myopathy 3 | Uncertain significance (Sep 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137213295
- GRCh38:
- Chr5:137877606
| MYOT, PKD2L2-DT | | Myofibrillar myopathy 3 | Likely benign (Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137222546
- GRCh38:
- Chr5:137886857
| MYOT, PKD2L2-DT | | Myofibrillar myopathy 3 | Likely benign (Aug 23, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137211683
- GRCh38:
- Chr5:137875994
| MYOT, PKD2L2-DT | | Myofibrillar myopathy 3 | Likely benign (Jan 11, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137206388
- GRCh38:
- Chr5:137870699
| MYOT, PKD2L2-DT | | Myofibrillar myopathy 3 | Likely benign (Jul 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137217811
- GRCh38:
- Chr5:137882122
| MYOT, PKD2L2-DT | | Myofibrillar myopathy 3 | Likely benign (Nov 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137211680
- GRCh38:
- Chr5:137875991
| MYOT, PKD2L2-DT | | Myofibrillar myopathy 3 | Likely benign (Aug 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137206658
- GRCh38:
- Chr5:137870969
| PKD2L2-DT, MYOT | | Myofibrillar myopathy 3 | Likely benign (Mar 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137221718
- GRCh38:
- Chr5:137886029
| MYOT, PKD2L2-DT | | Myofibrillar myopathy 3 | Benign (Oct 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137222698
- GRCh38:
- Chr5:137887009
| MYOT, PKD2L2-DT | | Myofibrillar myopathy 3 | Likely benign (Mar 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137211620
- GRCh38:
- Chr5:137875931
| MYOT, PKD2L2-DT | | Myofibrillar myopathy 3 | Likely benign (Apr 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137217771
- GRCh38:
- Chr5:137882082
| MYOT, PKD2L2-DT | | Myofibrillar myopathy 3 | Likely benign (Oct 7, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137217646
- GRCh38:
- Chr5:137881957
| MYOT, PKD2L2-DT | | Myofibrillar myopathy 3 | Likely benign (Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137211503
- GRCh38:
- Chr5:137875814
| MYOT, PKD2L2-DT | | Myofibrillar myopathy 3 | Likely benign (Jun 17, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137206589
- GRCh38:
- Chr5:137870900
| MYOT, PKD2L2-DT | | Myofibrillar myopathy 3 | Likely benign (Jun 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137222704
- GRCh38:
- Chr5:137887015
| MYOT, PKD2L2-DT | | Myofibrillar myopathy 3 | Likely benign (Feb 21, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137217722
- GRCh38:
- Chr5:137882033
| MYOT, PKD2L2-DT | | Myofibrillar myopathy 3 | Likely benign (Jul 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137221801
- GRCh38:
- Chr5:137886112
| MYOT, PKD2L2-DT | | Myofibrillar myopathy 3 | Likely benign (Jul 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137219159
- GRCh38:
- Chr5:137883470
| MYOT, PKD2L2-DT | | Myofibrillar myopathy 3 | Likely benign (Jul 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137213197
- GRCh38:
- Chr5:137877508
| MYOT, PKD2L2-DT | | Myofibrillar myopathy 3 | Likely benign (Sep 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137216563
- GRCh38:
- Chr5:137880874
| MYOT, PKD2L2-DT | | Myofibrillar myopathy 3 | Likely benign (Sep 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137222697
- GRCh38:
- Chr5:137887008
| MYOT, PKD2L2-DT | | Myofibrillar myopathy 3 | Likely benign (Oct 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137216522
- GRCh38:
- Chr5:137880833
| MYOT, PKD2L2-DT | | Myofibrillar myopathy 3 | Likely benign (Nov 25, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137222563
- GRCh38:
- Chr5:137886874
| MYOT, PKD2L2-DT | D286Y, D401Y, D217Y | Myofibrillar myopathy 3 | Uncertain significance (Aug 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137216555
- GRCh38:
- Chr5:137880866
| MYOT, PKD2L2-DT | | Myofibrillar myopathy 3 | Uncertain significance (Aug 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137222553
- GRCh38:
- Chr5:137886864
| MYOT, PKD2L2-DT | | Myofibrillar myopathy 3 | Uncertain significance (Aug 18, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137222615
- GRCh38:
- Chr5:137886926
| MYOT, PKD2L2-DT | A234V, A418V, A303V | Myofibrillar myopathy 3 | Uncertain significance (Oct 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137221844
- GRCh38:
- Chr5:137886155
| MYOT, PKD2L2-DT | P263A, P378A, P194A | Myofibrillar myopathy 3 | Uncertain significance (Nov 18, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137217740
- GRCh38:
- Chr5:137882051
| MYOT, PKD2L2-DT | Q139H, Q254H, Q70H | Myofibrillar myopathy 3 | Uncertain significance (Feb 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137223058
- GRCh38:
- Chr5:137887369
| MYOT, PKD2L2-DT | E379A, E310A, E494A | Myofibrillar myopathy 3 | Uncertain significance (Aug 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137216485-137221922
| MYOT | | Myofibrillar myopathy 3 | Uncertain significance (Sep 22, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137222904
- GRCh38:
- Chr5:137887215
| MYOT, PKD2L2-DT | R443C, R259C, R328C | Myofibrillar myopathy 3 | Uncertain significance (Jul 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137222968
- GRCh38:
- Chr5:137887279
| MYOT, PKD2L2-DT | L349S, L280S, L464S | Myofibrillar myopathy 3 | Uncertain significance (Aug 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137219238
- GRCh38:
- Chr5:137883549
| MYOT, PKD2L2-DT | R213G, R144G, R328G | Myofibrillar myopathy 3 | Uncertain significance (Aug 3, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137211690
- GRCh38:
- Chr5:137876001
| MYOT, PKD2L2-DT | Q177E, Q62E | not provided, Myofibrillar myopathy 3 | Uncertain significance (Aug 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:137206474
- GRCh38:
- Chr5:137870785
| MYOT, PKD2L2-DT | R45L | Myofibrillar myopathy 3 | Uncertain significance (Aug 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137206390
- GRCh38:
- Chr5:137870701
| MYOT, PKD2L2-DT | C17Y | Myofibrillar myopathy 3 | Uncertain significance (Nov 7, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137219212
- GRCh38:
- Chr5:137883523
| MYOT, PKD2L2-DT | G204A, G319A, G135A | Myofibrillar myopathy 3 | Uncertain significance (Nov 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137213229
- GRCh38:
- Chr5:137877540
| MYOT, PKD2L2-DT | K69N, K184N | Myofibrillar myopathy 3 | Uncertain significance (Aug 3, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137222986
- GRCh38:
- Chr5:137887297
| MYOT, PKD2L2-DT | G355A, G470A, G286A | Inborn genetic diseases, Myofibrillar myopathy 3 | Uncertain significance (Jun 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:137213270
- GRCh38:
- Chr5:137877581
| MYOT, PKD2L2-DT | V83A, V14A, V198A | Myofibrillar myopathy 3 | Uncertain significance (Jul 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137211585
- GRCh38:
- Chr5:137875896
| MYOT, PKD2L2-DT | I142V, I27V | not provided, Myofibrillar myopathy 3 | Uncertain significance (Jul 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:137223055
- GRCh38:
- Chr5:137887366
| MYOT, PKD2L2-DT | Y309C, Y378C, Y493C | Myofibrillar myopathy 3 | Uncertain significance (Sep 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137219215
- GRCh38:
- Chr5:137883526
| MYOT, PKD2L2-DT | A136V, A205V, A320V | Myofibrillar myopathy 3 | Uncertain significance (Aug 24, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:137206638
- GRCh38:
- Chr5:137870949
| MYOT, PKD2L2-DT | I100V | Myofibrillar myopathy 3, not provided | Uncertain significance (Aug 10, 2022) | criteria provided, multiple submitters, no conflicts |