ClinVar Miner

Submissions for variant NM_007327.4(GRIN1):c.513C>T (p.His171=)

gnomAD frequency: 0.00009  dbSNP: rs144687877
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001396138 SCV001597861 likely benign Intellectual disability, autosomal dominant 8 2024-01-15 criteria provided, single submitter clinical testing
GeneDx RCV001779164 SCV002015321 likely benign not provided 2021-05-13 criteria provided, single submitter clinical testing

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