ClinVar Miner

Submissions for variant NM_007327.4(GRIN1):c.2442C>T (p.Ala814=)

gnomAD frequency: 0.00001  dbSNP: rs773708731
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000456851 SCV000541369 likely benign Intellectual disability, autosomal dominant 8 2023-11-11 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000711871 SCV000842278 uncertain significance not provided 2017-09-19 criteria provided, single submitter clinical testing

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