ClinVar Miner

Submissions for variant NM_173630.4(RTTN):c.3793C>T (p.Arg1265Trp)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003005360 SCV003302496 likely benign not provided 2024-12-31 criteria provided, single submitter clinical testing
GeneDx RCV003005360 SCV005440780 uncertain significance not provided 2024-06-24 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); 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

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