ClinVar Miner

Submissions for variant NM_001365536.1(SCN9A):c.4503+8_4503+9insT

gnomAD frequency: 0.00003  dbSNP: rs767624579
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000369517 SCV000418333 uncertain significance Inherited Erythromelalgia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000277287 SCV000418334 uncertain significance Generalized epilepsy with febrile seizures plus 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000311295 SCV000418335 uncertain significance Small fiber neuropathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000368712 SCV000418336 uncertain significance Severe myoclonic epilepsy in infancy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000262360 SCV000418337 uncertain significance Paroxysmal extreme pain disorder 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000319882 SCV000418338 uncertain significance Congenital Indifference to Pain 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000372277 SCV000418339 uncertain significance Febrile seizures, familial 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000647819 SCV000769622 likely benign Neuropathy, hereditary sensory and autonomic, type 2A; Generalized epilepsy with febrile seizures plus, type 7 2024-11-15 criteria provided, single submitter clinical testing

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