| - GRCh37:
- Chr7:107330573-107330575
- GRCh38:
- Chr7:107690128-107690130
| SLC26A4 | | Pendred syndrome | Pathogenic
(May 6, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr7:107315422
- GRCh38:
- Chr7:107674977
| SLC26A4 | I211M | Pendred syndrome | Uncertain significance
(May 7, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr7:107315453
- GRCh38:
- Chr7:107675008
| SLC26A4 | G222S | Pendred syndrome | Pathogenic
(Jun 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:107330650
- GRCh38:
- Chr7:107690205
| SLC26A4 | A411T | Pendred syndrome | Likely pathogenic
(Nov 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:107314652-107314653
- GRCh38:
- Chr7:107674207-107674208
| SLC26A4 | S154fs | Pendred syndrome | Likely pathogenic
(Jan 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:107341628
- GRCh38:
- Chr7:107701183
| SLC26A4 | L597* | Pendred syndrome | Likely pathogenic
(May 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:107303830
- GRCh38:
- Chr7:107663385
| SLC26A4 | S86fs | Pendred syndrome | Likely pathogenic
(Dec 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:107350589-107350592
- GRCh38:
- Chr7:107710144-107710147
| LOC123956210, SLC26A4 | L729fs | Pendred syndrome | Likely pathogenic
(Dec 29, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:107302189-107302190
- GRCh38:
- Chr7:107661744-107661745
| SLC26A4, SLC26A4-AS1 | Q35fs | Pendred syndrome | Likely pathogenic
(Dec 17, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:107330571-107330572
- GRCh38:
- Chr7:107690126-107690127
| SLC26A4 | I386fs | Pendred syndrome | Likely pathogenic
(May 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:107330671
- GRCh38:
- Chr7:107690226
| SLC26A4 | G418* | Pendred syndrome | Likely pathogenic
(Dec 8, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:107350518-107350519
- GRCh38:
- Chr7:107710073-107710074
| LOC123956210, SLC26A4 | E704fs | Pendred syndrome | Likely pathogenic
(Dec 5, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:107335099
- GRCh38:
- Chr7:107694654
| SLC26A4 | K459* | Pendred syndrome | Likely pathogenic
(Mar 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:107314746-107314747
- GRCh38:
- Chr7:107674301-107674302
| SLC26A4 | R185fs | Pendred syndrome | Likely pathogenic
(Mar 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:107303772
- GRCh38:
- Chr7:107663327
| SLC26A4 | K66* | Pendred syndrome | Likely pathogenic
(Mar 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:107323795
- GRCh38:
- Chr7:107683350
| SLC26A4 | I305fs | not provided, Pendred syndrome | Pathogenic/Likely pathogenic
(Mar 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:107344802-107344811
- GRCh38:
- Chr7:107704357-107704366
| SLC26A4 | V688fs | Pendred syndrome | Likely pathogenic
(Mar 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:107302163-107302164
- GRCh38:
- Chr7:107661718-107661719
| SLC26A4, SLC26A4-AS1 | Y27fs | Pendred syndrome | Likely pathogenic
(Mar 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:107335133-107335136
- GRCh38:
- Chr7:107694688-107694691
| SLC26A4 | L471fs | Pendred syndrome | Likely pathogenic
(Mar 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:107329511
- GRCh38:
- Chr7:107689066
| SLC26A4 | E339fs | Pendred syndrome | Likely pathogenic
(Mar 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:107330610
- GRCh38:
- Chr7:107690165
| SLC26A4 | F398fs | Pendred syndrome | Likely pathogenic
(Nov 10, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:107341603
- GRCh38:
- Chr7:107701158
| SLC26A4 | Q589* | Pendred syndrome | Likely pathogenic
(Nov 10, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:107336429
- GRCh38:
- Chr7:107695984
| SLC26A4 | G497fs | Pendred syndrome | Likely pathogenic
(Feb 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:107314710-107314711
- GRCh38:
- Chr7:107674265-107674266
| SLC26A4 | T174fs | Pendred syndrome | Likely pathogenic
(Nov 8, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:107341638
- GRCh38:
- Chr7:107701193
| SLC26A4 | K601fs | Pendred syndrome | Likely pathogenic
(Jan 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:107312624
- GRCh38:
- Chr7:107672179
| SLC26A4 | G116S | Pendred syndrome | Likely pathogenic
(Sep 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:107342297
- GRCh38:
- Chr7:107701852
| SLC26A4 | S610* | Pendred syndrome | Pathogenic
(Jun 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:107329620
- GRCh38:
- Chr7:107689175
| SLC26A4 | Y375C | not specified, Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4
| Uncertain significance
(May 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:169533192
- GRCh38:
- Chr5:170106188
| FOXI1 | | Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4, not provided
| Likely benign
(Mar 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:169535301
- GRCh38:
- Chr5:170108297
| FOXI1 | A275T | not provided, Autosomal recessive nonsyndromic hearing loss 4, Pendred syndrome
| Likely benign
(Jun 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:107315557
- GRCh38:
- Chr7:107675112
| SLC26A4 | | not provided, Pendred syndrome | Pathogenic/Likely pathogenic
(Apr 21, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:160011688
- GRCh38:
- Chr1:160041898
| KCNJ10 | Q212R | EAST syndrome, Autosomal recessive nonsyndromic hearing loss 4, Pendred syndrome,
EAST syndrome | Uncertain significance
(Aug 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:160012145
- GRCh38:
- Chr1:160042355
| KCNJ10 | I60V | Autosomal recessive nonsyndromic hearing loss 4, Pendred syndrome, EAST syndrome,
EAST syndrome | Uncertain significance
(Oct 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:160012075
- GRCh38:
- Chr1:160042285
| KCNJ10 | G83A | Inborn genetic diseases, Autosomal recessive nonsyndromic hearing loss 4, Pendred syndrome,
EAST syndrome, EAST syndrome | Uncertain significance
(Jan 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:169535241
- GRCh38:
- Chr5:170108237
| FOXI1 | A255T | not provided, Inborn genetic diseases, Autosomal recessive nonsyndromic hearing loss 4,
Pendred syndrome | Uncertain significance
(Apr 14, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:107303808
- GRCh38:
- Chr7:107663363
| SLC26A4 | Y78H | Pendred syndrome | Uncertain significance
(Nov 17, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:107334870
- GRCh38:
- Chr7:107694425
| SLC26A4 | A429E | Autosomal recessive nonsyndromic hearing loss 4, Pendred syndrome, not specified
| Uncertain significance
(Mar 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:107323684
- GRCh38:
- Chr7:107683239
| SLC26A4 | N268S | Inborn genetic diseases, not provided, Pendred syndrome,
Autosomal recessive nonsyndromic hearing loss 4 | Uncertain significance
(May 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:107350643
- GRCh38:
- Chr7:107710198
| SLC26A4 | T745M | not provided, Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4
| Uncertain significance
(Aug 3, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:107350439-107350440
- GRCh38:
- Chr7:107709994-107709995
| LOC123956210, SLC26A4 | | not provided | Benign
(Oct 17, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:107342383
- GRCh38:
- Chr7:107701938
| SLC26A4 | D639Y | Autosomal recessive nonsyndromic hearing loss 4, Pendred syndrome | Uncertain significance
(Jul 22, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:107312684
- GRCh38:
- Chr7:107672239
| SLC26A4 | I136V | not provided | Conflicting interpretations of pathogenicity
(Sep 22, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:107329543
- GRCh38:
- Chr7:107689098
| SLC26A4 | M349I | not provided | Uncertain significance
(Apr 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:107342329
- GRCh38:
- Chr7:107701884
| SLC26A4 | I621V | Autosomal recessive nonsyndromic hearing loss 4, Pendred syndrome | Uncertain significance
(Jul 22, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:107303764
- GRCh38:
- Chr7:107663319
| SLC26A4 | G63A | Autosomal recessive nonsyndromic hearing loss 4, Pendred syndrome | Uncertain significance
(Jul 22, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:107323675
- GRCh38:
- Chr7:107683230
| SLC26A4 | G265A | Autosomal recessive nonsyndromic hearing loss 4, Pendred syndrome | Uncertain significance
(Jul 22, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:107344833
- GRCh38:
- Chr7:107704388
| SLC26A4 | | not provided | Uncertain significance
(Jul 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:107312618
- GRCh38:
- Chr7:107672173
| SLC26A4 | G114R | not provided, Autosomal recessive nonsyndromic hearing loss 4, Pendred syndrome
| Uncertain significance
(Nov 9, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:107350637
- GRCh38:
- Chr7:107710192
| SLC26A4 | L743S | not provided, not specified | Uncertain significance
(Jul 26, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:107353019-107353020
- GRCh38:
- Chr7:107712574-107712575
| SLC26A4 | | not provided | Uncertain significance
(Aug 28, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:107352959
- GRCh38:
- Chr7:107712514
| SLC26A4 | | not provided | Benign/Likely benign
(Oct 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:107323971
- GRCh38:
- Chr7:107683526
| SLC26A4 | | not provided, Autosomal recessive nonsyndromic hearing loss 4, Pendred syndrome
| Likely benign
(Sep 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:107323649
- GRCh38:
- Chr7:107683204
| SLC26A4 | | not provided, Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4
| Likely benign
(Sep 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:107334871
- GRCh38:
- Chr7:107694426
| SLC26A4 | | not provided | Likely benign
(Nov 14, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr7:107314703
- GRCh38:
- Chr7:107674258
| SLC26A4 | | not provided | Likely benign
(Jul 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:107303746
- GRCh38:
- Chr7:107663301
| SLC26A4 | S57* | not provided, Autosomal recessive nonsyndromic hearing loss 4 | Pathogenic
(May 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:107334855
- GRCh38:
- Chr7:107694410
| SLC26A4 | G424D | not provided, Pendred syndrome | Likely pathogenic
(Dec 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:107315543
- GRCh38:
- Chr7:107675098
| SLC26A4 | S252P | Autosomal recessive nonsyndromic hearing loss 4, Pendred syndrome, not provided
| Pathogenic
(Sep 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:140953578-140953579
- GRCh38:
- Chr5:141574011-141574012
| DIAPH1 | P605fs, P614fs | Pendred syndrome | Likely pathogenic
(Apr 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:107334864
- GRCh38:
- Chr7:107694419
| SLC26A4 | S427Y | Pendred syndrome | Likely pathogenic
(Apr 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:107315492
- GRCh38:
- Chr7:107675047
| SLC26A4 | Q235* | Pendred syndrome, not provided | Pathogenic
(Aug 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:169533268
- GRCh38:
- Chr5:170106264
| FOXI1 | G103W | Autosomal recessive nonsyndromic hearing loss 4, Pendred syndrome, Hearing impairment
| Uncertain significance
(Jul 29, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:26698790
- GRCh38:
- Chr2:26475922
| OTOF | C248R, C305R, C995R | Pendred syndrome | Uncertain significance
(Apr 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:3063860-3063861
- GRCh38:
- Chr16:3013859-3013860
| CLDN9 | W168fs | Hearing loss, autosomal recessive 116, Pendred syndrome | Conflicting interpretations of pathogenicity
(Feb 28, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:107336379
- GRCh38:
- Chr7:107695934
| SLC26A4 | V480D | not specified, Pendred syndrome | Conflicting interpretations of pathogenicity
(Oct 19, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:160012244
- GRCh38:
- Chr1:160042454
| KCNJ10 | R27W | Autosomal recessive nonsyndromic hearing loss 4, Pendred syndrome, EAST syndrome,
EAST syndrome | Uncertain significance
(Feb 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:160011295
- GRCh38:
- Chr1:160041505
| KCNJ10 | R343H | EAST syndrome, Autosomal recessive nonsyndromic hearing loss 4, Pendred syndrome,
EAST syndrome | Uncertain significance
(Aug 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:160011782
- GRCh38:
- Chr1:160041992
| KCNJ10 | F181L | Inborn genetic diseases, Autosomal recessive nonsyndromic hearing loss 4, EAST syndrome,
Pendred syndrome, EAST syndrome | Uncertain significance
(Mar 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:160012240
- GRCh38:
- Chr1:160042450
| KCNJ10 | R28Q | EAST syndrome, Autosomal recessive nonsyndromic hearing loss 4, Pendred syndrome,
EAST syndrome | Uncertain significance
(Feb 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:107340526
- GRCh38:
- Chr7:107700081
| SLC26A4 | | not provided, Autosomal recessive nonsyndromic hearing loss 4 | Pathogenic/Likely pathogenic
(Jun 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:107315558
- GRCh38:
- Chr7:107675113
| SLC26A4 | | Pendred syndrome | Uncertain significance
(Feb 12, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr7:107314708
- GRCh38:
- Chr7:107674263
| SLC26A4 | N172S | Pendred syndrome | Uncertain significance
(May 4, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr1:160012318
- GRCh38:
- Chr1:160042528
| KCNJ10 | T2R | EAST syndrome, Autosomal recessive nonsyndromic hearing loss 4, Pendred syndrome,
EAST syndrome | Uncertain significance
(Oct 27, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:107350577
- Chr7:107355874
- GRCh38:
- Chr7:107710132
- Chr7:107715429
| LOC123956210, SLC26A4, SLC26A4 | H723R, R776G | Pendred syndrome | Likely pathogenic
(May 31, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr7:107314609
- GRCh38:
- Chr7:107674164
| SLC26A4 | G139V | not provided, Autosomal recessive nonsyndromic hearing loss 4, Pendred syndrome
| Pathogenic/Likely pathogenic
(Aug 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:107350560
- GRCh38:
- Chr7:107710115
| LOC123956210, SLC26A4 | | not provided | Likely benign
(Jan 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:107340609
- GRCh38:
- Chr7:107700164
| SLC26A4 | I566V | Pendred syndrome | Uncertain significance
(Aug 16, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr7:107323958
- GRCh38:
- Chr7:107683513
| SLC26A4 | G326A | Pendred syndrome | Uncertain significance
(Aug 14, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr7:107303763
- GRCh38:
- Chr7:107663318
| SLC26A4 | G63S | Pendred syndrome | Uncertain significance
(Aug 14, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr7:107329583
- GRCh38:
- Chr7:107689138
| SLC26A4 | I363L | Pendred syndrome | Pathogenic
(May 12, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr7:107350576
- GRCh38:
- Chr7:107710131
| LOC123956210, SLC26A4 | H723D | not provided, Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4
| Pathogenic
(Aug 11, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:160012082
- GRCh38:
- Chr1:160042292
| KCNJ10 | L81F | Inborn genetic diseases, Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4,
EAST syndrome, EAST syndrome | Uncertain significance
(Nov 16, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:107357836
- GRCh38:
- Chr7:107717391
| SLC26A4 | | Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:107357796
- GRCh38:
- Chr7:107717351
| SLC26A4 | | Autosomal recessive nonsyndromic hearing loss 4, Pendred syndrome | Uncertain significance
(Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr7:107357357
- GRCh38:
- Chr7:107716912
| SLC26A4 | | Autosomal recessive nonsyndromic hearing loss 4, Pendred syndrome | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:107357193
- GRCh38:
- Chr7:107716748
| SLC26A4 | | Autosomal recessive nonsyndromic hearing loss 4, Pendred syndrome | Benign/Likely benign
(Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr7:107356267
- GRCh38:
- Chr7:107715822
| SLC26A4 | | Autosomal recessive nonsyndromic hearing loss 4, not provided, Pendred syndrome
| Conflicting interpretations of pathogenicity
(May 21, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:107356242
- GRCh38:
- Chr7:107715797
| SLC26A4 | | Autosomal recessive nonsyndromic hearing loss 4, Pendred syndrome | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:107356241
- GRCh38:
- Chr7:107715796
| SLC26A4 | | Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4, not provided
| Conflicting interpretations of pathogenicity
(Sep 4, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:107352978
- GRCh38:
- Chr7:107712533
| SLC26A4 | | Pendred syndrome, not provided, Autosomal recessive nonsyndromic hearing loss 4
| Conflicting interpretations of pathogenicity
(Jul 21, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:107352969
- GRCh38:
- Chr7:107712524
| SLC26A4 | | Pendred syndrome, not provided, Autosomal recessive nonsyndromic hearing loss 4
| Conflicting interpretations of pathogenicity
(Aug 4, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:107303766
- GRCh38:
- Chr7:107663321
| SLC26A4 | V64M | Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:107357759
- GRCh38:
- Chr7:107717314
| SLC26A4 | | Autosomal recessive nonsyndromic hearing loss 4, Pendred syndrome | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:107357727
- GRCh38:
- Chr7:107717282
| SLC26A4 | | Autosomal recessive nonsyndromic hearing loss 4, Pendred syndrome | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:107357680
- GRCh38:
- Chr7:107717235
| SLC26A4 | | Autosomal recessive nonsyndromic hearing loss 4, Pendred syndrome | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:107356959
- GRCh38:
- Chr7:107716514
| SLC26A4 | | Autosomal recessive nonsyndromic hearing loss 4, Pendred syndrome | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:107356093
- GRCh38:
- Chr7:107715648
| SLC26A4 | | Autosomal recessive nonsyndromic hearing loss 4, Pendred syndrome | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:107356092
- GRCh38:
- Chr7:107715647
| SLC26A4 | | Autosomal recessive nonsyndromic hearing loss 4, Pendred syndrome | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr7:107350528
- GRCh38:
- Chr7:107710083
| LOC123956210, SLC26A4 | G707R | Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4, not provided
| Uncertain significance
(Feb 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:107315467
- GRCh38:
- Chr7:107675022
| SLC26A4 | | Autosomal recessive nonsyndromic hearing loss 4, Pendred syndrome, not provided
| Conflicting interpretations of pathogenicity
(Sep 6, 2022) | criteria provided, conflicting interpretations |