ClinVar Miner

Submissions for variant NM_001145809.2(MYH14):c.5128-12C>T

gnomAD frequency: 0.00006  dbSNP: rs372261958
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Total submissions: 1
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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 RCV000151205 SCV000199036 likely benign not specified 2013-11-22 criteria provided, single submitter clinical testing 5128-12C>T in Intron 36 of MYH14: This variant is not expected to have clinical significance because it does not diverge from the splice consensus sequence and computational prediction tools do not suggest an impact to splicing. This varian t has been identified in 1/4148 (0.02%) African American chromosomes by the NHLB I Exome Sequencing Project (http://evs.gs.washington.edu/EVS/; dbSNP rs372261958 ).

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