ClinVar Miner

Submissions for variant NM_133433.4(NIPBL):c.5808+5G>A

dbSNP: rs2149704635
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein RCV001771778 SCV002011702 likely pathogenic Cornelia de Lange syndrome 1 2021-09-14 no assertion criteria provided clinical testing
Prenatal Diagnosis Center, Inner Mongolia Medical University RCV001771778 SCV002584995 pathogenic Cornelia de Lange syndrome 1 2021-03-01 no assertion criteria provided clinical testing

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