ClinVar Miner

Submissions for variant NM_001365536.1(SCN9A):c.4434GAA[1] (p.Lys1480del)

dbSNP: rs886055050
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000344529 SCV000418347 uncertain significance Inherited Erythromelalgia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000391544 SCV000418348 uncertain significance Severe myoclonic epilepsy in infancy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000295569 SCV000418349 uncertain significance Congenital Indifference to Pain 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000352792 SCV000418350 uncertain significance Generalized epilepsy with febrile seizures plus 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000404016 SCV000418351 uncertain significance Paroxysmal extreme pain disorder 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000299172 SCV000418352 uncertain significance Febrile seizures, familial 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000353982 SCV000418353 uncertain significance Small fiber neuropathy 2016-06-14 criteria provided, single submitter clinical testing

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