ClinVar Miner

Submissions for variant NM_007327.4(GRIN1):c.2333+9C>A

gnomAD frequency: 0.00006  dbSNP: rs201316377
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000234646 SCV000289849 benign Intellectual disability, autosomal dominant 8 2023-06-05 criteria provided, single submitter clinical testing
GeneDx RCV000431873 SCV000526503 likely benign not specified 2018-02-12 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.

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