ClinVar Miner

Submissions for variant NM_020774.4(MIB1):c.2305C>T (p.Arg769Ter)

gnomAD frequency: 0.00003  dbSNP: rs752243957
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001530059 SCV002526541 uncertain significance not provided 2022-06-07 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is not a well-established mechanism of disease; Has not been published in a peer-reviewed journal to our knowledge
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001530059 SCV001744619 likely pathogenic not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001530059 SCV001966769 likely pathogenic not provided no assertion criteria provided clinical testing

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