ClinVar Miner

Submissions for variant NM_001365536.1(SCN9A):c.*1118_*1119insCA

gnomAD frequency: 0.11174  dbSNP: rs140616949
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000305824 SCV000418123 benign Small fiber neuropathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000353605 SCV000418124 benign Paroxysmal extreme pain disorder 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000357016 SCV000418127 benign Inherited Erythromelalgia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000274983 SCV000418128 benign Congenital Indifference to Pain 2016-06-14 criteria provided, single submitter clinical testing

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