ClinVar Miner

Submissions for variant NM_004366.6(CLCN2):c.2415+9A>G

gnomAD frequency: 0.00351  dbSNP: rs192449317
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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 RCV000877973 SCV001020796 benign not provided 2024-01-25 criteria provided, single submitter clinical testing
GeneDx RCV000877973 SCV001916938 benign not provided 2021-05-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501351 SCV002805136 benign Epilepsy, idiopathic generalized, susceptibility to, 11; Familial hyperaldosteronism type II; Leukoencephalopathy with mild cerebellar ataxia and white matter edema 2021-07-30 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000877973 SCV005304582 benign not provided criteria provided, single submitter not provided
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001796298 SCV002033905 benign not specified no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001796298 SCV002036066 benign not specified no assertion criteria provided clinical testing

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