ClinVar Miner

Submissions for variant NM_172369.5(C1QC):c.490G>A (p.Gly164Ser) (rs752596663)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000508986 SCV000606735 pathogenic C1q deficiency 2017-10-18 no assertion criteria provided literature only
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City RCV000508986 SCV001132833 pathogenic C1q deficiency 2019-01-29 no assertion criteria provided clinical testing

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