ClinVar Miner

Submissions for variant NM_001012339.3(DNAJC21):c.982del (p.Ala328fs)

dbSNP: rs1580531090
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000987508 SCV001136817 pathogenic Bone marrow failure syndrome 3 2019-05-28 criteria provided, single submitter clinical testing

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