ClinVar Miner

Submissions for variant NM_133433.4(NIPBL):c.6576dup (p.Ile2193fs)

dbSNP: rs1752962580
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
Clinical Genetics and Genomics, Karolinska University Hospital RCV001269683 SCV001449854 pathogenic not provided 2016-06-07 criteria provided, single submitter clinical testing

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