ClinVar Miner

Submissions for variant NM_018993.4(RIN2):c.2436C>T (p.Tyr812=)

gnomAD frequency: 0.00007  dbSNP: rs540923982
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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 RCV000501868 SCV000596775 likely benign not specified 2016-03-17 criteria provided, single submitter clinical testing
GeneDx RCV000842334 SCV000984344 likely benign not provided 2018-04-26 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.
Fulgent Genetics, Fulgent Genetics RCV002506229 SCV002798612 likely benign RIN2 syndrome 2021-11-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000842334 SCV003273727 benign not provided 2025-01-29 criteria provided, single submitter clinical testing

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