ClinVar Miner

Submissions for variant NM_020184.4(CNNM4):c.*203del

gnomAD frequency: 0.00093  dbSNP: rs562289410
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000367017 SCV000432651 uncertain significance Jalili syndrome 2016-06-14 criteria provided, single submitter clinical testing

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