ClinVar Miner

Submissions for variant NM_001379110.1(SLC9A6):c.1438dup (p.Met480fs)

dbSNP: rs2148190013
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001577049 SCV001804366 pathogenic not provided 2019-07-29 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge
Provincial Medical Genetics Program of British Columbia, University of British Columbia RCV002072270 SCV002320818 likely pathogenic Christianson syndrome 2022-01-01 criteria provided, single submitter clinical testing

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