ClinVar Miner

Submissions for variant NM_002977.3(SCN9A):c.4462C>A (p.Arg1488=) (rs187558439)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000728379 SCV000855943 uncertain significance not provided 2017-08-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000261220 SCV000418340 likely benign Small fiber neuropathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000323359 SCV000418341 likely benign Severe myoclonic epilepsy in infancy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000380287 SCV000418342 likely benign Generalized epilepsy with febrile seizures plus 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000283499 SCV000418343 likely benign Inherited Erythromelalgia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000322333 SCV000418344 likely benign Familial Febrile Seizures 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000383965 SCV000418345 likely benign Congenital Indifference to Pain 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000291970 SCV000418346 likely benign Paroxysmal extreme pain disorder 2016-06-14 criteria provided, single submitter clinical testing

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