ClinVar Miner

Submissions for variant NM_001365536.1(SCN9A):c.2680del (p.Glu894fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomics, Clalit Research Institute, Clalit Health Care RCV005002046 SCV005619979 likely pathogenic Primary erythromelalgia 2024-10-10 criteria provided, single submitter clinical testing Frequency: The variant is absent from the gnomAD reference population dataset. Variant type: Null variant (frameshift) in a gene where loss of function is a known mechanism of disease. Predicted to undergo NMD.

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