ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.1354G>A (p.Val452Met) (rs145956175)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000726971 SCV000241232 benign not provided 2019-08-02 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 25904555, 22833210, 26283219, 27839871)
Athena Diagnostics Inc RCV000187635 SCV000613546 benign not specified 2017-04-25 criteria provided, single submitter clinical testing
Invitae RCV001084905 SCV000638223 likely benign Epilepsy, focal, with speech disorder and with or without mental retardation 2020-11-13 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000726971 SCV000704581 uncertain significance not provided 2017-10-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV000718520 SCV000849384 benign History of neurodevelopmental disorder 2018-12-18 criteria provided, single submitter clinical testing Does not segregate with disease in family study (genes with incomplete penetrance);General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance

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