ClinVar Miner

Submissions for variant NM_025132.4(WDR19):c.3917+15C>T

gnomAD frequency: 0.00006  dbSNP: rs377597948
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001811588 SCV001158282 likely benign not provided 2020-04-02 criteria provided, single submitter clinical testing
Invitae RCV002068764 SCV002364080 likely benign Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 2024-01-13 criteria provided, single submitter clinical testing

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