ClinVar Miner

Submissions for variant NM_004341.5(CAD):c.1070_1071del (p.Val357fs)

dbSNP: rs1572426165
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001008909 SCV001168715 likely pathogenic not provided 2020-04-16 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 in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge
Mayo Clinic Laboratories, Mayo Clinic RCV001008909 SCV004225902 likely pathogenic not provided 2023-03-08 criteria provided, single submitter clinical testing PM2, PVS1

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