ClinVar Miner

Submissions for variant NM_004341.5(CAD):c.5594-1G>A

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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 RCV005024399 SCV005655943 likely pathogenic Developmental and epileptic encephalopathy, 50 2024-06-14 criteria provided, single submitter clinical testing

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