ClinVar Miner

Submissions for variant NM_133433.4(NIPBL):c.507G>T (p.Gln169His)

dbSNP: rs2149607854
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573965 SCV001800594 uncertain significance not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001573965 SCV001808387 uncertain significance not provided no assertion criteria provided clinical testing

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