ClinVar Miner

Submissions for variant NM_133433.4(NIPBL):c.-153dup

dbSNP: rs567891305
Minimum review status: Collection method:
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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 RCV000374694 SCV000457260 uncertain significance De Lange syndrome 2016-06-14 criteria provided, single submitter clinical testing

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