ClinVar Miner

Submissions for variant NM_138691.3(TMC1):c.2133G>A (p.Leu711=)

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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 RCV003831102 SCV004634198 likely benign not provided 2024-05-06 criteria provided, single submitter clinical testing
GeneDx RCV003831102 SCV005401747 uncertain significance not provided 2024-05-16 criteria provided, single submitter clinical testing In silico analysis indicates that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge

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