ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.1141+8G>T

gnomAD frequency: 0.00045  dbSNP: rs377327277
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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 RCV000154765 SCV000204445 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing c.1141+8G>T in Intron 12 of MYH6: This variant is not expected to have clinical significance because it is not located within the splice consensus sequence. It has been identified in 0.1% (5/3738) of African American chromosomes from a broa d population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu /EVS;).
GeneDx RCV001704122 SCV000714700 likely benign not provided 2018-05-07 criteria provided, single submitter clinical testing
Invitae RCV000647096 SCV000768883 benign Hypertrophic cardiomyopathy 14 2024-01-05 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000154765 SCV002548232 benign not specified 2022-05-07 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000154765 SCV001925054 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000154765 SCV001926590 benign not specified no assertion criteria provided clinical testing

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