ClinVar Miner

Submissions for variant NM_001145809.2(MYH14):c.5960+8C>T

gnomAD frequency: 0.00034  dbSNP: rs373176553
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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 RCV000600388 SCV000711113 likely benign not specified 2016-06-04 criteria provided, single submitter clinical testing c.5960+8C>T in intron 42 of MYH14: This variant is not expected to have clinical significance because it is not located within the conserved splice consensus se quence and has been identified in 7/9792 African chromosomes by the Exome Aggre gation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs373176553).
Invitae RCV000982987 SCV001131006 benign not provided 2023-07-17 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003953006 SCV004774052 likely benign MYH14-related condition 2019-07-11 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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