ClinVar Miner

Submissions for variant NM_030665.4(RAI1):c.109G>A (p.Gly37Arg)

gnomAD frequency: 0.00024  dbSNP: rs201393598
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000502371 SCV000596701 uncertain significance not specified 2016-05-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002311823 SCV000847120 benign Inborn genetic diseases 2019-01-31 criteria provided, single submitter clinical testing This alteration is classified as 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.
Invitae RCV001857156 SCV002303853 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Revvity Omics, Revvity Omics RCV003133287 SCV003813696 uncertain significance Smith-Magenis syndrome 2019-12-18 criteria provided, single submitter clinical testing

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