ClinVar Miner

Submissions for variant NM_002977.3(SCN9A):c.174G>A (p.Gln58=) (rs6432901)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000713166 SCV000843745 benign not provided 2018-05-06 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000118295 SCV000152667 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.
Illumina Clinical Services Laboratory,Illumina RCV000363455 SCV000418854 benign Small fiber neuropathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000271887 SCV000418855 benign Familial Febrile Seizures 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000310588 SCV000418856 benign Inherited Erythromelalgia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000358311 SCV000418857 benign Severe myoclonic epilepsy in infancy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000265880 SCV000418858 benign Generalized epilepsy with febrile seizures plus 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000323339 SCV000418859 benign Congenital Indifference to Pain 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000380181 SCV000418860 benign Paroxysmal extreme pain disorder 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000118295 SCV000309302 benign not specified criteria provided, single submitter clinical testing

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