ClinVar Miner

Submissions for variant NM_002203.4(ITGA2):c.*894C>T

gnomAD frequency: 0.74563  dbSNP: rs1109526
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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 RCV000369221 SCV000457789 benign Platelet-type bleeding disorder 9 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000290658 SCV000484145 benign Combined molybdoflavoprotein enzyme deficiency 2016-06-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004716365 SCV005301021 benign not provided criteria provided, single submitter not provided

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