ClinVar Miner

Submissions for variant NM_133433.4(NIPBL):c.483C>T (p.Ser161=)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002338119 SCV002638057 likely benign Inborn genetic diseases 2018-06-21 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp RCV003096490 SCV003258932 benign Cornelia de Lange syndrome 1 2024-11-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003961006 SCV004771219 likely benign NIPBL-related disorder 2020-02-10 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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