ClinVar Miner

Submissions for variant NM_133433.4(NIPBL):c.179A>G (p.Asn60Ser) (rs142703446)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000284905 SCV000457261 likely benign Cornelia de Lange Syndrome 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000718634 SCV000849498 likely benign History of neurodevelopmental disorder 2017-05-05 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Subpopulation frequency in support of benign classification

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