ClinVar Miner

Submissions for variant NM_000834.5(GRIN2B):c.1125+9T>C

gnomAD frequency: 0.00001  dbSNP: rs764590430
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001514817 SCV001722752 benign Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 2023-09-22 criteria provided, single submitter clinical testing
GeneDx RCV001692405 SCV001911234 benign not provided 2021-01-27 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001692405 SCV005233669 benign not provided criteria provided, single submitter not provided

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