ClinVar Miner

Submissions for variant NM_007327.4(GRIN1):c.258+18C>T

gnomAD frequency: 0.00130  dbSNP: rs202160831
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000419396 SCV000525145 likely benign not specified 2017-10-17 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.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514011 SCV000609617 likely benign not provided 2017-05-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002062706 SCV002323426 benign Intellectual disability, autosomal dominant 8 2024-01-25 criteria provided, single submitter clinical testing

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