ClinVar Miner

Submissions for variant NM_001365536.1(SCN9A):c.647T>C (p.Phe216Ser)

dbSNP: rs80356469
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000006737 SCV000026928 pathogenic Primary erythromelalgia 2006-11-14 no assertion criteria provided literature only
GeneReviews RCV000006737 SCV000040973 not provided Primary erythromelalgia no assertion provided literature only

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