ClinVar Miner

Submissions for variant NM_001012339.3(DNAJC21):c.983+1G>A (rs368148362)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000784914 SCV000923455 uncertain significance Bone marrow failure syndrome 3 2019-01-01 criteria provided, single submitter clinical testing
Bone Marrow Failure laboratory,Queen Mary University London RCV000235793 SCV000257533 pathogenic Inherited bone marrow failure syndrome 2015-12-17 no assertion criteria provided research

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