ClinVar Miner

Submissions for variant NM_133433.4(NIPBL):c.6624C>T (p.Phe2208=)

gnomAD frequency: 0.00016  dbSNP: rs371380435
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002314548 SCV000848288 likely benign Inborn genetic diseases 2016-11-14 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Invitae RCV003106033 SCV003779981 benign Cornelia de Lange syndrome 1 2023-03-31 criteria provided, single submitter clinical testing

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