ClinVar Miner

Submissions for variant NM_000834.4(GRIN2B):c.3534C>T (p.His1178=) (rs1806191)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000711874 SCV000842284 benign not provided 2017-04-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715335 SCV000846164 benign History of neurodevelopmental disorder 2016-02-09 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000117197 SCV000151361 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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