ClinVar Miner

Submissions for variant NM_133433.4(NIPBL):c.1151A>G (p.Asn384Ser)

gnomAD frequency: 0.00009  dbSNP: rs2291703
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000146515 SCV000193805 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000146515 SCV000339368 benign not specified 2016-02-23 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000954334 SCV000457267 likely benign Cornelia de Lange syndrome 1 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Invitae RCV000954334 SCV001100962 likely benign Cornelia de Lange syndrome 1 2023-10-29 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000954334 SCV002055911 benign Cornelia de Lange syndrome 1 2021-07-15 criteria provided, single submitter clinical testing

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