ClinVar Miner

Submissions for variant NM_002977.3(SCN9A):c.1285C>T (p.Arg429Cys) (rs763256222)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000662199 SCV000784554 uncertain significance Primary erythromelalgia 2018-03-05 criteria provided, single submitter clinical testing
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000662200 SCV000784555 uncertain significance Generalized epilepsy with febrile seizures plus, type 7 2018-03-05 criteria provided, single submitter clinical testing
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000662201 SCV000784556 uncertain significance Indifference to pain, congenital, autosomal recessive 2018-03-05 criteria provided, single submitter clinical testing
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000662202 SCV000784557 uncertain significance Febrile seizures, familial, 1 2018-03-05 criteria provided, single submitter clinical testing

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