ClinVar Miner

Submissions for variant NM_017649.5(CNNM2):c.612del (p.Ser205fs)

dbSNP: rs2134149733
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001770979 SCV001993951 uncertain significance not provided 2019-07-22 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 not a known mechanism of disease; Has not been previously published as pathogenic or benign to our knowledge; Not observed in large population cohorts (Lek et al., 2016)

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