ClinVar Miner

Submissions for variant NM_001365536.1(SCN9A):c.4812G>T (p.Val1604=) (rs149207258)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000118308 SCV000309324 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000378791 SCV000418325 benign Severe myoclonic epilepsy in infancy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000286759 SCV000418326 benign Familial febrile seizures 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000339487 SCV000418327 benign Generalized epilepsy with febrile seizures plus 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000391322 SCV000418328 benign Inherited Erythromelalgia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000309081 SCV000418329 benign Congenital Indifference to Pain 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000347548 SCV000418330 benign Paroxysmal extreme pain disorder 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000405619 SCV000418331 benign Small fiber neuropathy 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000713174 SCV000843755 benign not provided 2018-05-04 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000118308 SCV000152682 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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