ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.733-9T>C

gnomAD frequency: 0.00003  dbSNP: rs944780538
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000613472 SCV000712049 likely benign not specified 2016-05-06 criteria provided, single submitter clinical testing c.733-9T>C in intron 8 of MYH7: This variant is not expected to have clinical si gnificance because a T>C change at this position does not diverge from the splic e consensus sequence and is therefore unlikely to impact splicing.
Invitae RCV001403680 SCV001605556 likely benign Hypertrophic cardiomyopathy 2023-09-23 criteria provided, single submitter clinical testing

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