ClinVar Miner

Submissions for variant NM_000834.5(GRIN2B):c.3004G>C (p.Gly1002Arg)

gnomAD frequency: 0.00001  dbSNP: rs761281000
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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 RCV001306762 SCV001496144 likely benign Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 2025-02-03 criteria provided, single submitter clinical testing
Baylor Genetics RCV001330051 SCV001521642 uncertain significance Intellectual disability, autosomal dominant 6 2019-11-25 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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