ClinVar Miner

Submissions for variant NM_001365536.1(SCN9A):c.3361C>T (p.Arg1121Trp)

gnomAD frequency: 0.00304  dbSNP: rs190664764
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins NTD LLC (GA) RCV000175302 SCV000226769 benign not specified 2014-12-02 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224392 SCV000280960 likely benign not provided 2015-10-07 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
GeneDx RCV000175302 SCV000514587 benign not specified 2016-08-03 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001084262 SCV000559273 benign Neuropathy, hereditary sensory and autonomic, type 2A; Generalized epilepsy with febrile seizures plus, type 7 2021-12-15 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000175302 SCV000615127 likely benign not specified 2017-02-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000224392 SCV000892314 uncertain significance not provided 2016-05-01 criteria provided, single submitter clinical testing

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