ClinVar Miner

Submissions for variant NM_007327.4(GRIN1):c.1548G>A (p.Pro516=)

gnomAD frequency: 0.00518  dbSNP: rs75783429
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000432597 SCV000524090 benign not specified 2016-02-19 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000467124 SCV000554329 benign Intellectual disability, autosomal dominant 8 2024-01-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002311488 SCV000846846 benign Inborn genetic diseases 2016-06-02 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, 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.
Athena Diagnostics RCV000992111 SCV001144113 benign not provided 2019-03-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000992111 SCV005318053 benign not provided criteria provided, single submitter not provided

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