ClinVar Miner

Submissions for variant NM_001111125.3(IQSEC2):c.3364C>T (p.Arg1122Cys)

gnomAD frequency: 0.00004  dbSNP: rs782697291
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000454304 SCV000537997 likely pathogenic Abnormal brain morphology criteria provided, single submitter research
Invitae RCV000647967 SCV000769777 benign Intellectual disability, X-linked 1 2024-01-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV002313151 SCV000849276 benign Inborn genetic diseases 2017-03-31 criteria provided, single submitter clinical testing This alteration is classified as 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.
Athena Diagnostics RCV001289062 SCV001476624 benign not specified 2019-11-21 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001311388 SCV001501544 likely benign not provided 2021-01-01 criteria provided, single submitter clinical testing

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