ClinVar Miner

Submissions for variant NM_003737.4(DCHS1):c.8611C>T (p.Arg2871Trp)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002283121 SCV002571313 uncertain significance not provided 2025-01-03 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
Labcorp Genetics (formerly Invitae), Labcorp RCV002283121 SCV003516808 likely benign not provided 2024-12-02 criteria provided, single submitter clinical testing

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