ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.563G>C (p.Gly188Ala)

dbSNP: rs1554434857
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000711235 SCV000841567 likely pathogenic not provided 2017-09-20 criteria provided, single submitter clinical testing
GeneDx RCV000711235 SCV002513208 likely pathogenic not provided 2023-08-08 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 23739125)

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