ClinVar Miner

Submissions for variant NM_025132.4(WDR19):c.1484G>A (p.Gly495Asp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004795513 SCV005416006 likely pathogenic Asphyxiating thoracic dystrophy 5; Nephronophthisis 13; Cranioectodermal dysplasia 4; Senior-Loken syndrome 8; Spermatogenic failure 72 criteria provided, single submitter clinical testing PP3_Strong+PM2_Supporting+PM5_Supporting

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