ClinVar Miner

Submissions for variant NM_006610.4(MASP2):c.503G>A (p.Arg168His)

gnomAD frequency: 0.00001  dbSNP: rs778384259
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001334574 SCV001527454 uncertain significance Immunodeficiency due to MASP-2 deficiency 2018-02-06 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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