ClinVar Miner

Submissions for variant NM_001394998.1(TANC2):c.864G>A (p.Trp288Ter)

dbSNP: rs1229328527
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001755504 SCV002005025 pathogenic not provided 2022-06-30 criteria provided, single submitter clinical testing Nonsense 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 (gnomAD); Has not been previously published as pathogenic or benign to our knowledge

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