ClinVar Miner

Submissions for variant NM_000834.5(GRIN2B):c.3005G>T (p.Gly1002Val)

dbSNP: rs773762599
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital RCV000678805 SCV000804986 uncertain significance developmental delay with intractable seizures 2016-08-03 no assertion criteria provided clinical testing

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