ClinVar Miner

Submissions for variant NM_003803.4(MYOM1):c.2385-13G>A

gnomAD frequency: 0.00042  dbSNP: rs116126674
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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 RCV000608354 SCV000711571 likely benign not specified 2016-09-01 criteria provided, single submitter clinical testing c.2385-13G>A in intron 16 of MYOM1: This variant is not expected to have clinica l significance because it has been identified in 0.4% (36/8860) of African chrom osomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org ; dbSNP rs116126674).
Invitae RCV002062126 SCV002436376 benign Hypertrophic cardiomyopathy 2024-01-13 criteria provided, single submitter clinical testing

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