ClinVar Miner

Submissions for variant NM_002203.4(ITGA2):c.*1252G>A

gnomAD frequency: 0.11343  dbSNP: rs1042324
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000357473 SCV000457792 benign Platelet-type bleeding disorder 9 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000326815 SCV000484146 likely benign Combined molybdoflavoprotein enzyme deficiency 2016-06-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004705395 SCV005224426 likely benign not provided criteria provided, single submitter not provided

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