ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.2094+8G>A

gnomAD frequency: 0.00001  dbSNP: rs781886473
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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 RCV000610573 SCV000712698 likely benign not specified 2016-12-08 criteria provided, single submitter clinical testing c.2094+8G>A in intron 17 of MYO7A : This variant is not expected to have clinica l significance because it is not located within the splice consensus sequence. I t has been identified in 1/11464 of Latino chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs781886473).
Invitae RCV002062140 SCV002357263 likely benign not provided 2022-06-07 criteria provided, single submitter clinical testing

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