ClinVar Miner

Submissions for variant NM_007327.4(GRIN1):c.237C>T (p.Cys79=)

gnomAD frequency: 0.00001  dbSNP: rs200529044
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000543147 SCV000651697 benign Intellectual disability, autosomal dominant 8 2024-01-05 criteria provided, single submitter clinical testing
GeneDx RCV000605384 SCV000726995 likely benign not specified 2018-01-29 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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