ClinVar Miner

Submissions for variant NM_018993.4(RIN2):c.84C>T (p.Ile28=)

gnomAD frequency: 0.00670  dbSNP: rs181853315
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000192885 SCV000248722 likely benign not specified 2015-06-24 criteria provided, single submitter clinical testing
GeneDx RCV001705086 SCV000528011 benign not provided 2019-03-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001705086 SCV002401416 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500593 SCV002805093 likely benign RIN2 syndrome 2021-08-09 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001705086 SCV004152511 likely benign not provided 2024-04-01 criteria provided, single submitter clinical testing RIN2: BP4, BS2
Breakthrough Genomics, Breakthrough Genomics RCV001705086 SCV005207420 likely benign not provided criteria provided, single submitter not provided

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