ClinVar Miner

Submissions for variant NM_025132.4(WDR19):c.4025T>C (p.Leu1342Pro)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005039138 SCV005665277 uncertain significance Asphyxiating thoracic dystrophy 5; Nephronophthisis 13; Cranioectodermal dysplasia 4; Senior-Loken syndrome 8; Spermatogenic failure 72 2024-05-15 criteria provided, single submitter clinical testing

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