ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.895+12C>T

gnomAD frequency: 0.00003  dbSNP: rs186276057
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Total submissions: 4
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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 RCV000151304 SCV000199256 likely benign not specified 2014-07-16 criteria provided, single submitter clinical testing 895+12C>T in intron 10 of MYH7: This variant is not expected to have clinical si gnificance because it is not located within the splice consensus sequence. It h as also been identified in 1/128 Mexican chromosomes by the 1000 Genomes Project (dbSNP rs186276057).
GeneDx RCV001539914 SCV001757739 likely benign not provided 2020-08-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002055987 SCV002395179 likely benign Hypertrophic cardiomyopathy 2024-01-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498701 SCV002807033 likely benign Hypertrophic cardiomyopathy 1; Myopathy, myosin storage, autosomal recessive; Myosin storage myopathy; Congenital myopathy with fiber type disproportion; Dilated cardiomyopathy 1S; MYH7-related skeletal myopathy 2022-05-02 criteria provided, single submitter clinical testing

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