ClinVar Miner

Submissions for variant NM_007327.4(GRIN1):c.394-11G>A

gnomAD frequency: 0.00274  dbSNP: rs75081117
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000418621 SCV000519417 benign not specified 2016-10-07 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002062355 SCV002348080 benign Intellectual disability, autosomal dominant 8 2024-01-29 criteria provided, single submitter clinical testing

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