ClinVar Miner

Submissions for variant NM_001379110.1(SLC9A6):c.346C>T (p.Gln116Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV005250649 SCV005901007 uncertain significance not provided 2024-09-24 criteria provided, single submitter clinical testing Reported using an alternate transcript of the gene; Not observed at significant frequency in large population cohorts (gnomAD); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is not a known mechanism of disease.; Has not been previously published as pathogenic or benign to our knowledge

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