ClinVar Miner

Submissions for variant NM_000834.5(GRIN2B):c.45G>A (p.Val15=)

gnomAD frequency: 0.00030  dbSNP: rs374735893
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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 RCV001079032 SCV000659539 benign Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 2024-12-24 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000533669 SCV001144118 benign not provided 2019-02-20 criteria provided, single submitter clinical testing
GeneDx RCV000533669 SCV001898672 benign not provided 2021-02-26 criteria provided, single submitter clinical testing

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