ClinVar Miner

Submissions for variant NM_001365536.1(SCN9A):c.721T>A (p.Ser241Thr)

dbSNP: rs80356470
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000006723 SCV000026914 pathogenic Primary erythromelalgia 2005-10-01 no assertion criteria provided literature only
GeneReviews RCV000006723 SCV000040974 not provided Primary erythromelalgia no assertion provided literature only
Reutter Lab, Institute of Human Genetics, University Hospital Bonn RCV000006723 SCV000301472 uncertain significance Primary erythromelalgia no assertion criteria provided research

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