ClinVar Miner

Submissions for variant NM_025132.4(WDR19):c.962-11G>A

gnomAD frequency: 0.00005  dbSNP: rs537505873
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002132962 SCV002440977 likely benign Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 2024-01-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494388 SCV002804203 likely benign Asphyxiating thoracic dystrophy 5; Nephronophthisis 13; Cranioectodermal dysplasia 4; Senior-Loken syndrome 8; Spermatogenic failure 72 2022-04-26 criteria provided, single submitter clinical testing

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