ClinVar Miner

Submissions for variant NM_000834.5(GRIN2B):c.4307G>C (p.Gly1436Ala)

dbSNP: rs1565452616
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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 RCV000690599 SCV000818294 benign Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 2023-10-13 criteria provided, single submitter clinical testing
Baylor Genetics RCV001330053 SCV001521644 uncertain significance Developmental and epileptic encephalopathy, 27 2019-10-07 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Fulgent Genetics, Fulgent Genetics RCV000690599 SCV002782566 uncertain significance Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 2021-09-01 criteria provided, single submitter clinical testing

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