ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.1831G>T (p.Val611Phe)

dbSNP: rs560416690
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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 RCV000942089 SCV001088003 likely benign not provided 2018-07-26 criteria provided, single submitter clinical testing
GeneDx RCV000942089 SCV002538741 uncertain significance not provided 2022-06-27 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge

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