ClinVar Miner

Submissions for variant NM_014908.4(DOLK):c.1110dup (p.Ile371fs)

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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 RCV005048915 SCV005679967 likely pathogenic DK1-congenital disorder of glycosylation 2024-04-14 criteria provided, single submitter clinical testing

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