ClinVar Miner

Submissions for variant NM_001378156.1(C1QB):c.623G>A (p.Gly208Asp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV003225881 SCV003808086 uncertain significance C1Q deficiency 2 2022-04-29 criteria provided, single submitter clinical testing ACMG classification criteria: PM2 moderated

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