ClinVar Miner

Submissions for variant NM_004366.6(CLCN2):c.2415+4_2415+5dup

dbSNP: rs146494980
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000438622 SCV000510998 likely benign not provided 2016-07-11 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Invitae RCV000438622 SCV001021370 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002506010 SCV002799444 likely benign Epilepsy, idiopathic generalized, susceptibility to, 11; Familial hyperaldosteronism type II; Leukoencephalopathy with mild cerebellar ataxia and white matter edema 2022-05-04 criteria provided, single submitter clinical testing

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