ClinVar Miner

Submissions for variant NM_001365536.1(SCN9A):c.1107+48C>T

gnomAD frequency: 0.70514  dbSNP: rs7588632
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001807559 SCV002054619 benign Primary erythromelalgia 2021-07-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001807560 SCV002054620 benign Channelopathy-associated congenital insensitivity to pain, autosomal recessive 2021-07-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001807561 SCV002054621 benign Paroxysmal extreme pain disorder 2021-07-15 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV004594593 SCV005087390 benign not specified 2024-07-15 criteria provided, single submitter clinical testing This variant is classified as Benign based on local population frequency. This variant was detected in 76% of patients studied in a panel designed for Epileptic and Developmental Encephalopathy and Progressive Myoclonus Epilepsy. Number of patients: 71. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV004710380 SCV005241943 benign not provided criteria provided, single submitter not provided

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