ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.2738-1G>A

dbSNP: rs1555120792
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000520255 SCV000617920 likely pathogenic not provided 2019-12-17 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed in large population cohorts (Lek et al., 2016); Canonical splice site variant predicted to result in aberrant splicing

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