ClinVar Miner

Submissions for variant NM_002203.4(ITGA2):c.*2939C>T

gnomAD frequency: 0.10451  dbSNP: rs7700416
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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 RCV000399600 SCV000457827 benign Platelet-type bleeding disorder 9 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000405467 SCV000484153 likely benign Combined molybdoflavoprotein enzyme deficiency 2016-06-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004707143 SCV005222729 likely benign not provided criteria provided, single submitter not provided

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