ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.6384C>T (p.Ile2128=)

gnomAD frequency: 0.00004  dbSNP: rs748743374
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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 RCV000608067 SCV000712423 likely benign not specified 2016-08-23 criteria provided, single submitter clinical testing p.Ile2128Ile in exon 47 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. It has been identified in 2/20742 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitu te.org; dbSNP rs748743374).
Invitae RCV001410848 SCV001612901 likely benign not provided 2024-01-18 criteria provided, single submitter clinical testing

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