ClinVar Miner

Submissions for variant NM_001111125.3(IQSEC2):c.3735C>T (p.His1245=)

gnomAD frequency: 0.00019  dbSNP: rs797045630
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194534 SCV000247634 uncertain significance not specified 2014-10-21 criteria provided, single submitter clinical testing
GeneDx RCV000194534 SCV000724098 likely benign not specified 2017-10-26 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.
Invitae RCV000909459 SCV001054265 likely benign Intellectual disability, X-linked 1 2023-12-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002362999 SCV002624184 likely benign Inborn genetic diseases 2019-10-23 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.
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001701555 SCV001931652 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001701555 SCV001976012 likely benign not provided no assertion criteria provided clinical testing

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