ClinVar Miner

Submissions for variant NM_001349253.2(SCN11A):c.1843-10C>A

gnomAD frequency: 0.00049  dbSNP: rs200533903
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000559464 SCV000654712 benign Hereditary sensory and autonomic neuropathy type 7; Familial episodic pain syndrome with predominantly lower limb involvement 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001672856 SCV001889724 benign not provided 2019-09-12 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001672856 SCV001917248 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001672856 SCV001952977 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001672856 SCV001967820 likely benign not provided no assertion criteria provided clinical testing

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