ClinVar Miner

Submissions for variant NM_001394998.1(TANC2):c.2662_2665dup (p.His889fs)

dbSNP: rs2147079960
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001837662 SCV002098240 likely pathogenic not provided 2024-08-16 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 at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge

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