ClinVar Miner

Submissions for variant NM_001378156.1(C1QB):c.46C>T (p.Leu16Phe)

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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 RCV005015557 SCV005639865 uncertain significance C1Q deficiency 2 2024-04-16 criteria provided, single submitter clinical testing

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