ClinVar Miner

Submissions for variant NM_001145809.2(MYH14):c.693+12C>T

gnomAD frequency: 0.00009  dbSNP: rs370673291
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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 RCV000151181 SCV000199003 likely benign not specified 2012-04-30 criteria provided, single submitter clinical testing c.693+12C>T in intron 5 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 1/3468 African American chromosomes by the NHLB I Exome Sequencing Project (http://evs.gs.washington.edu/EVS).
Invitae RCV002055984 SCV002446321 likely benign not provided 2023-08-19 criteria provided, single submitter clinical testing

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