ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.425G>A (p.Ser142Asn)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV005000965 SCV005621337 uncertain significance not provided 2024-01-23 criteria provided, single submitter clinical testing Available data are insufficient to determine the clinical significance of the variant at this time. This variant has not been reported in large, multi-ethnic general populations. (http://gnomad.broadinstitute.org) Computational tools predict that this variant is not damaging.

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