ClinVar Miner

Submissions for variant NM_003665.4(FCN3):c.620A>G (p.Tyr207Cys)

gnomAD frequency: 0.00002  dbSNP: rs781053078
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001332306 SCV001524580 uncertain significance Immunodeficiency due to ficolin3 deficiency 2019-08-13 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Breakthrough Genomics, Breakthrough Genomics RCV004691420 SCV005186589 uncertain significance not provided criteria provided, single submitter not provided

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