ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.1069_1072delinsGC (p.Arg357fs)

dbSNP: rs730880687
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000158424 SCV000208359 pathogenic not provided 2020-05-18 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

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