ClinVar Miner

Submissions for variant NM_001349253.2(SCN11A):c.268-10dup

dbSNP: rs552650164
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000555845 SCV000654726 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 RCV001560102 SCV001782442 likely benign not provided 2023-02-28 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
CeGaT Center for Human Genetics Tuebingen RCV001560102 SCV002544796 benign not provided 2024-10-01 criteria provided, single submitter clinical testing SCN11A: BS1, BS2
Clinical Genetics, Academic Medical Center RCV001700157 SCV001922805 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001700157 SCV001957080 benign not specified no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003915622 SCV004729730 benign SCN11A-related disorder 2024-02-14 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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