ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.3978+8C>T

gnomAD frequency: 0.00088  dbSNP: rs367866050
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Total submissions: 6
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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 RCV000037489 SCV000061147 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing 3978+8C>T in intron 28 of MYH6: This variant is not expected to have clinical si gnificance because it is not located within the splice consensus sequence. It ha s been identified in 0.3% (10/3738) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/ EVS). 3978+8C>T in intron 28 of MYH6 (allele frequency = 0.3%, 10/3738) **
Invitae RCV000525038 SCV000648257 benign Hypertrophic cardiomyopathy 14 2024-01-10 criteria provided, single submitter clinical testing
GeneDx RCV000037489 SCV000720611 likely benign not specified 2017-06-27 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego RCV000365468 SCV000995405 likely benign Hypertrophic cardiomyopathy 2019-06-03 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000037489 SCV001918838 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000037489 SCV001932860 benign not specified no assertion criteria provided clinical testing

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