ClinVar Miner

Submissions for variant NM_001256071.3(RNF213):c.5716C>T (p.Arg1906Cys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004794796 SCV005414583 uncertain significance not provided 2024-05-22 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV004794796 SCV005819080 benign not provided 2024-12-04 criteria provided, single submitter clinical testing

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