ClinVar Miner

Submissions for variant NM_004366.6(CLCN2):c.2364C>G (p.Cys788Trp)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003145022 SCV003832367 uncertain significance not provided 2020-07-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV004246121 SCV004928074 uncertain significance Inborn genetic diseases 2023-12-17 criteria provided, single submitter clinical testing The c.2364C>G (p.C788W) alteration is located in exon 22 (coding exon 22) of the CLCN2 gene. This alteration results from a C to G substitution at nucleotide position 2364, causing the cysteine (C) at amino acid position 788 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005036676 SCV005665013 uncertain significance Epilepsy, idiopathic generalized, susceptibility to, 11; Familial hyperaldosteronism type II; Leukoencephalopathy with mild cerebellar ataxia and white matter edema 2024-06-13 criteria provided, single submitter clinical testing

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