ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.2362del (p.Arg788fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003059911 SCV003195093 likely pathogenic not provided 2022-07-12 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein extension, as the last 34 amino acids are replaced with 94 different amino acids, and other loss-of-function variants have been reported downstream in HGMD; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 31268554)

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