ClinVar Miner

Submissions for variant NM_001012339.3(DNAJC21):c.100A>G (p.Lys34Glu) (rs1561180439)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001267409 SCV001445590 pathogenic Inborn genetic diseases 2017-01-18 criteria provided, single submitter clinical testing
OMIM RCV000754770 SCV000882660 pathogenic Bone marrow failure syndrome 3 2019-01-30 no assertion criteria provided literature only

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