ClinVar Miner

Submissions for variant NM_007327.4(GRIN1):c.2488C>T (p.Leu830=)

gnomAD frequency: 0.00002  dbSNP: rs746335646
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000544512 SCV000651700 likely benign Intellectual disability, autosomal dominant 8 2023-10-13 criteria provided, single submitter clinical testing

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