ClinVar Miner

Submissions for variant NM_007327.4(GRIN1):c.2097G>C (p.Leu699=)

gnomAD frequency: 0.00016  dbSNP: rs143865216
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000711870 SCV000528311 likely benign not provided 2020-10-08 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000711870 SCV000842277 likely benign not provided 2017-12-06 criteria provided, single submitter clinical testing
Invitae RCV001085476 SCV001006033 likely benign Intellectual disability, autosomal dominant 8 2024-01-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002418301 SCV002725068 likely benign Inborn genetic diseases 2018-01-31 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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