ClinVar Miner

Submissions for variant NM_001012339.3(DNAJC21):c.94C>G (p.Pro32Ala) (rs879253818)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Bone Marrow Failure laboratory,Queen Mary University London RCV000235465 SCV000257530 pathogenic Inherited bone marrow failure syndrome 2015-12-17 no assertion criteria provided research
OMIM RCV000239470 SCV000297971 pathogenic Bone marrow failure syndrome 3 2016-07-28 no assertion criteria provided literature only

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