ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.*26+2T>C

dbSNP: rs1416420771
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001762973 SCV001989016 uncertain significance not provided 2021-04-22 criteria provided, single submitter clinical testing Reported as c.*26+2T>C in one individual with HCM, though patient-specific details were not described (Walsh et al., 2017); Not observed in large population cohorts (Lek et al., 2016); Canonical splice site variant with an unclear effect on protein function; This variant is associated with the following publications: (PMID: 27532257)

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