ClinVar Miner

Submissions for variant NM_133433.4(NIPBL):c.8085G>A (p.Thr2695=)

gnomAD frequency: 0.00010  dbSNP: rs201036501
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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 RCV002313624 SCV000848769 likely benign Inborn genetic diseases 2017-01-17 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 RCV000925712 SCV001071261 benign Cornelia de Lange syndrome 1 2024-12-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000925712 SCV002055943 benign Cornelia de Lange syndrome 1 2021-07-15 criteria provided, single submitter clinical testing

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