ClinVar Miner

Submissions for variant NM_001145809.2(MYH14):c.5127+10G>A

gnomAD frequency: 0.00153  dbSNP: rs370928889
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Total submissions: 3
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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 RCV000151204 SCV000199035 likely benign not specified 2012-04-30 criteria provided, single submitter clinical testing 5127+10G>A in Intron 36 of MYH14: This variant is not expected to have clinical significance because it is not located within the conserved splice consensus seq uence and has been identified in 0.5% (16/3466) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.was hington.edu/EVS).
Labcorp Genetics (formerly Invitae), Labcorp RCV000899744 SCV001044029 benign not provided 2024-11-15 criteria provided, single submitter clinical testing
GeneDx RCV000899744 SCV001757157 likely benign not provided 2018-07-06 criteria provided, single submitter clinical testing

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