ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.1797+8G>A

gnomAD frequency: 0.00001  dbSNP: rs781801358
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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 RCV000601404 SCV000713062 likely benign not specified 2017-04-17 criteria provided, single submitter clinical testing c.1797+G>A in intron 15 of MYO7A: This variant is not expected to have clinical significance because it is not located within the splice consensus sequence. It has been identified in 1/11118 Latino chromosomes by the Exome Aggregation Cons ortium (ExAC, http://exac.broadinstitute.org; dbSNP rs781801358).
Invitae RCV001490227 SCV001694787 likely benign not provided 2023-12-22 criteria provided, single submitter clinical testing

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