ClinVar Miner

Submissions for variant NM_001111125.3(IQSEC2):c.596C>T (p.Pro199Leu)

gnomAD frequency: 0.00010  dbSNP: rs782439813
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000945870 SCV000565077 likely benign not provided 2021-02-09 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000766097 SCV000897574 uncertain significance Intellectual disability, X-linked 1 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000766097 SCV001717614 benign Intellectual disability, X-linked 1 2021-11-16 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001821388 SCV002072070 uncertain significance not specified 2017-07-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV002356764 SCV002656504 likely benign Inborn genetic diseases 2020-07-22 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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