ClinVar Miner

Submissions for variant NM_007327.4(GRIN1):c.2444-14G>A

gnomAD frequency: 0.00024  dbSNP: rs191352124
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000427368 SCV000524682 likely benign not specified 2017-11-15 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.
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003237844 SCV002009404 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
Invitae RCV001764357 SCV002398905 likely benign Intellectual disability, autosomal dominant 8 2024-01-26 criteria provided, single submitter clinical testing

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