ClinVar Miner

Submissions for variant NM_006257.5(PRKCQ):c.989C>T (p.Pro330Leu)

gnomAD frequency: 0.29559  dbSNP: rs2236379
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001672927 SCV001882252 benign not provided 2020-04-30 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 30828974)
Breakthrough Genomics, Breakthrough Genomics RCV001672927 SCV005323336 benign not provided criteria provided, single submitter not provided
Lab of Gastroenterology, College of Medicine, First Affiliate Hospital of Zhejiang University RCV001784354 SCV000844948 pathogenic Inflammatory bowel disease 1 no assertion criteria provided case-control

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