ClinVar Miner

Submissions for variant NM_025132.4(WDR19):c.1134+13T>G

gnomAD frequency: 0.00013  dbSNP: rs374615138
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000380856 SCV000449374 uncertain significance Jeune thoracic dystrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000286504 SCV000449375 uncertain significance Cranioectodermal dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV002057926 SCV002397937 likely benign Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 2023-11-27 criteria provided, single submitter clinical testing

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