ClinVar Miner

Submissions for variant NM_001349253.2(SCN11A):c.664C>A (p.Arg222Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV003322677 SCV004027676 pathogenic Familial episodic pain syndrome with predominantly lower limb involvement 2023-07-04 criteria provided, single submitter clinical testing Criteria applied: PS3,PS4_MOD,PM5,PM2_SUP,PP1,PP3,PP4

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