ClinVar Miner

Submissions for variant NM_182758.4(WDR72):c.2127dup (p.Gly710fs)

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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 RCV005011741 SCV005638159 likely pathogenic Amelogenesis imperfecta hypomaturation type 2A3 2024-02-05 criteria provided, single submitter clinical testing

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