ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.2062_2063insTTC (p.Gly688delinsValArg) (rs770836890)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000766930 SCV000571873 uncertain significance not provided 2016-10-20 criteria provided, single submitter clinical testing The c.2062_2063insTTC variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. It was not observed with any significant frequency in the Exome Aggregation Consortium (ExAC) data set, indicating it is not a benign variant in these populations. The c.2062_2063insTTC variant results in the replacement of a Glycine residue with a Valine residue, and the insertion of a single Arginine residue, denoted p.Gly688delinsValR. In-silico analysis predicts this variant does not affect gene splicing.
Athena Diagnostics Inc RCV000478548 SCV000612775 uncertain significance not specified 2017-06-27 criteria provided, single submitter clinical testing

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