ClinVar Miner

Submissions for variant NM_133433.4(NIPBL):c.-429del

dbSNP: rs376839773
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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 RCV000394993 SCV000457249 likely benign De Lange syndrome 2016-06-14 criteria provided, single submitter clinical testing

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