ClinVar Miner

Submissions for variant NM_007327.4(GRIN1):c.1108A>G (p.Thr370Ala)

gnomAD frequency: 0.00001  dbSNP: rs746527135
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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 RCV000584903 SCV000693312 uncertain significance not provided 2023-10-01 criteria provided, single submitter clinical testing GRIN1: PP2
Labcorp Genetics (formerly Invitae), Labcorp RCV001523565 SCV001733288 benign Intellectual disability, autosomal dominant 8 2023-01-20 criteria provided, single submitter clinical testing

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