ClinVar Miner

Submissions for variant NM_007327.4(GRIN1):c.780C>T (p.Arg260=)

gnomAD frequency: 0.00002  dbSNP: rs3181450
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000416174 SCV000493360 uncertain significance not provided 2016-08-01 criteria provided, single submitter clinical testing
Invitae RCV001081754 SCV000771494 likely benign Intellectual disability, autosomal dominant 8 2023-10-18 criteria provided, single submitter clinical testing

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