ClinVar Miner

Submissions for variant NM_007327.4(GRIN1):c.1198-6C>T

dbSNP: rs1057521991
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000444503 SCV000525425 likely benign not specified 2016-03-07 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.
Invitae RCV002058908 SCV002479969 likely benign Intellectual disability, autosomal dominant 8 2023-05-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV002525383 SCV003555883 uncertain significance Inborn genetic diseases 2021-05-20 criteria provided, single submitter clinical testing The c.1198-6C>T intronic alteration consists of a C to T substitution 6 nucleotides before exon 9 (coding exon 9) of the GRIN1 gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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