ClinVar Miner

Submissions for variant NM_001111125.3(IQSEC2):c.3663A>G (p.Pro1221=)

gnomAD frequency: 0.00003  dbSNP: rs797045629
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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 RCV000193282 SCV000247633 uncertain significance not specified 2015-02-06 criteria provided, single submitter clinical testing
GeneDx RCV001721253 SCV000529966 likely benign not provided 2018-11-13 criteria provided, single submitter clinical testing
Invitae RCV001516727 SCV001725056 benign Intellectual disability, X-linked 1 2023-03-20 criteria provided, single submitter clinical testing

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