ClinVar Miner

Submissions for variant NM_001365536.1(SCN9A):c.1975-3dup

dbSNP: rs35888674
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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center RCV000490270 SCV000267492 benign Primary erythromelalgia; Severe myoclonic epilepsy in infancy; Generalized epilepsy with febrile seizures plus, type 7 2016-03-18 criteria provided, single submitter reference population
Labcorp Genetics (formerly Invitae), Labcorp RCV000240418 SCV000299166 benign Neuropathy, hereditary sensory and autonomic, type 2A; Generalized epilepsy with febrile seizures plus, type 7 2024-02-01 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000408317 SCV000418643 benign Inherited Erythromelalgia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000301438 SCV000418644 benign Febrile seizures, familial 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000353924 SCV000418645 benign Small fiber neuropathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000261491 SCV000418646 benign Severe myoclonic epilepsy in infancy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000314398 SCV000418647 benign Generalized epilepsy with febrile seizures plus 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000370831 SCV000418648 benign Paroxysmal extreme pain disorder 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000274450 SCV000418649 benign Congenital Indifference to Pain 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000713168 SCV000843747 benign not provided 2018-05-07 criteria provided, single submitter clinical testing
Mendelics RCV000986926 SCV001136082 benign Neuropathy, hereditary sensory and autonomic, type 2A 2019-05-28 criteria provided, single submitter clinical testing
GeneDx RCV000713168 SCV001864936 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000153919 SCV000203535 benign not specified 2014-03-12 no assertion criteria provided clinical testing

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