ClinVar Miner

Submissions for variant NM_001010867.4(IBA57):c.257_260del (p.Ala86fs)

dbSNP: rs1002617439
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001008623 SCV001168397 likely pathogenic not provided 2022-05-19 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 a significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge

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