ClinVar Miner

Submissions for variant NM_133433.4(NIPBL):c.6886A>G (p.Ser2296Gly)

dbSNP: rs1401102641
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn RCV001843875 SCV002103068 uncertain significance Cornelia de Lange syndrome 1 2021-08-09 criteria provided, single submitter clinical testing PS1, PP2, PP5, BS2

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