ClinVar Miner

Submissions for variant NM_007327.4(GRIN1):c.2445G>A (p.Gly815=)

gnomAD frequency: 0.00009  dbSNP: rs367543117
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001088061 SCV001002686 likely benign Intellectual disability, autosomal dominant 8 2024-01-01 criteria provided, single submitter clinical testing
Psychiatry Genetics Yale University RCV000084696 SCV000116832 not provided not provided no assertion provided not provided

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