ClinVar Miner

Submissions for variant NM_005445.4(SMC3):c.1581T>C (p.His527=)

gnomAD frequency: 0.00009  dbSNP: rs182445355
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000147578 SCV000195027 uncertain significance Cornelia de Lange syndrome 3 2013-06-27 criteria provided, single submitter clinical testing
Invitae RCV000147578 SCV001091833 benign Cornelia de Lange syndrome 3 2023-08-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002399516 SCV002709548 likely benign Inborn genetic diseases 2018-11-01 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.

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