ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.6054G>A (p.Glu2018=)

dbSNP: rs1239820996
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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 RCV000599900 SCV000712565 likely benign not specified 2016-10-25 criteria provided, single submitter clinical testing p.Glu2018Glu in exon 45 of MYO7A: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence.
Invitae RCV001471785 SCV001675901 likely benign not provided 2023-06-06 criteria provided, single submitter clinical testing

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