ClinVar Miner

Submissions for variant NM_002977.3(SCN9A):c.3310A>G (p.Ser1104Gly) (rs201984007)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000329282 SCV000418487 likely benign Paroxysmal extreme pain disorder 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000386173 SCV000418488 likely benign Familial febrile seizures 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000293562 SCV000418489 likely benign Small fiber neuropathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000350766 SCV000418490 likely benign Generalized epilepsy with febrile seizures plus 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000388955 SCV000418491 likely benign Congenital Indifference to Pain 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000278131 SCV000418492 likely benign Severe myoclonic epilepsy in infancy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000335564 SCV000418493 likely benign Inherited Erythromelalgia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000647806 SCV000769609 likely benign not provided 2018-10-31 criteria provided, single submitter clinical testing

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