ClinVar Miner

Submissions for variant NM_002203.3(ITGA2):c.-124G>A

gnomAD frequency: 0.05373  dbSNP: rs3212385
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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 RCV000323846 SCV000457717 benign Platelet-type bleeding disorder 9 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001653696 SCV001863757 benign not provided 2021-06-20 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001653696 SCV005298787 benign not provided criteria provided, single submitter not provided

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