ClinVar Miner

Submissions for variant NM_001039.4(SCNN1G):c.1078-17TGC[3]

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003816581 SCV004614877 likely benign not provided 2024-09-06 criteria provided, single submitter clinical testing
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV004759319 SCV005373963 likely benign Liddle syndrome 2 2024-09-22 criteria provided, single submitter clinical testing
GeneDx RCV003816581 SCV005441062 uncertain significance not provided 2024-06-25 criteria provided, single submitter clinical testing In silico analysis supports a deleterious effect on splicing; Has not been previously published as pathogenic or benign to our knowledge

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