ClinVar Miner

Submissions for variant NM_178335.3(CCDC50):c.33G>A (p.Leu11=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002461897 SCV002756962 uncertain significance not provided 2022-05-19 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
Labcorp Genetics (formerly Invitae), Labcorp RCV002461897 SCV004642703 likely benign not provided 2023-04-14 criteria provided, single submitter clinical testing

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