ClinVar Miner

Submissions for variant NM_015959.4(TMX2):c.392del (p.Leu131fs)

gnomAD frequency: 0.00001  dbSNP: rs758529293
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli RCV001420247 SCV001622667 likely pathogenic See cases 2021-04-26 criteria provided, single submitter clinical testing PVS1_very strong;PM2_supporting
GeneDx RCV003229053 SCV003926319 uncertain significance not provided 2022-11-17 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene or region of a gene for which loss of function is not a well-established mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge

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