ClinVar Miner

Submissions for variant NM_005914.3(MCM4):c.-205C>T

gnomAD frequency: 0.00226  dbSNP: rs17287526
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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 RCV000379508 SCV000474074 uncertain significance Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency 2016-06-14 criteria provided, single submitter clinical testing

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