ClinVar Miner

Submissions for variant NM_001830.4(CLCN4):c.10G>T (p.Ala4Ser) (rs1015209935)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000767936 SCV000898614 uncertain significance Mental retardation 49, X-linked 2017-09-06 criteria provided, single submitter clinical testing CLCN4 NM_001830.3 exon 3 p.Ala4Ser (c.10G>T): This variant has not been reported in the literature but is present in 1/25980 Latino individuals in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs not available). Evolutionary conservation and computational predictive tools suggest that this variant may not impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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