ClinVar Miner

Submissions for variant NM_001010867.4(IBA57):c.625_650del (p.Pro209fs)

dbSNP: rs1364436691
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001008149 SCV001167909 likely pathogenic not provided 2020-10-22 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation, as the last 148 amino acids are replaced with 12 different amino acids, and other loss-of-function variants have been reported downstream in the Human Gene Mutation Database (Stenson et al., 2014); Not observed in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge
Revvity Omics, Revvity RCV001008149 SCV003834750 likely pathogenic not provided 2022-01-28 criteria provided, single submitter clinical testing

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