ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.5559+9G>A

gnomAD frequency: 0.00002  dbSNP: rs727503241
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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 RCV000151234 SCV000199102 likely benign not specified 2013-11-20 criteria provided, single submitter clinical testing 5559+9G>A in intron 37 of MYH7: This variant is not expected to have clinical si gnificance because it is not located with the splice consensus sequence. 5559+9 G>A in intron 37 of MYH7 (allele frequency = n/a)
Invitae RCV002055986 SCV002437672 likely benign Hypertrophic cardiomyopathy 2020-12-14 criteria provided, single submitter clinical testing

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