ClinVar Miner

Submissions for variant NM_007327.4(GRIN1):c.1592A>G (p.Lys531Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV003484216 SCV004231743 likely pathogenic Intellectual disability, autosomal dominant 8 criteria provided, single submitter clinical testing

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