ClinVar Miner

Submissions for variant NM_004366.6(CLCN2):c.1969A>C (p.Thr657Pro)

gnomAD frequency: 0.00041  dbSNP: rs149827415
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001755250 SCV002005324 uncertain significance not provided 2019-05-16 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001755250 SCV002400447 likely benign not provided 2024-11-09 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005038305 SCV005665035 uncertain significance Epilepsy, idiopathic generalized, susceptibility to, 11; Familial hyperaldosteronism type II; Leukoencephalopathy with mild cerebellar ataxia and white matter edema 2024-01-16 criteria provided, single submitter clinical testing

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