ClinVar Miner

Submissions for variant NM_005445.4(SMC3):c.2934G>A (p.Lys978=)

gnomAD frequency: 0.00135  dbSNP: rs147463420
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000147593 SCV000195042 uncertain significance Cornelia de Lange syndrome 3 2013-06-19 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000147593 SCV000360320 benign Cornelia de Lange syndrome 3 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Eurofins Ntd Llc (ga) RCV000597254 SCV000705400 likely benign not specified 2017-10-15 criteria provided, single submitter clinical testing
GeneDx RCV000597254 SCV000729015 likely benign not specified 2017-12-29 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV002316951 SCV000849580 likely benign Inborn genetic diseases 2017-05-31 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.
Invitae RCV000147593 SCV001018890 benign Cornelia de Lange syndrome 3 2024-01-10 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003422035 SCV004127478 likely benign not provided 2024-04-01 criteria provided, single submitter clinical testing SMC3: BP4, BP7, BS1

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