ClinVar Miner

Submissions for variant NM_003803.4(MYOM1):c.4648+7A>G

gnomAD frequency: 0.00014  dbSNP: rs555598943
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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 RCV000220915 SCV000270568 likely benign not specified 2015-11-19 criteria provided, single submitter clinical testing c.4648+7A>G in intron 34 of MYOM1: This variant is not expected to have clinical significance because it is not located within the splice consensus sequence. I t has been identified in 7/10040 Latino chromosomes by the Exome Aggregation Con sortium (ExAC, http://exac.broadinstitute.org; dbSNP rs555598943).
Invitae RCV000866632 SCV001007756 likely benign Hypertrophic cardiomyopathy 2024-01-01 criteria provided, single submitter clinical testing

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