ClinVar Miner

Submissions for variant NM_002203.4(ITGA2):c.*2940G>A

gnomAD frequency: 0.34995  dbSNP: rs6898333
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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 RCV000304662 SCV000457828 benign Platelet-type bleeding disorder 9 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000298934 SCV000484154 benign Combined molybdoflavoprotein enzyme deficiency 2016-06-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004716366 SCV005301022 benign not provided criteria provided, single submitter not provided

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