ClinVar Miner

Submissions for variant NM_001145809.2(MYH14):c.1330-7C>T

dbSNP: rs1455864505
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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 RCV000604736 SCV000731424 likely benign not specified 2017-02-07 criteria provided, single submitter clinical testing c.1330-7C>T in intron 12 of MYH14: This variant is not expected to have clinical significance because a C>T/T>C change at this position does not diverge from th e splice consensus sequence and is therefore unlikely to impact splicing.

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