ClinVar Miner

Submissions for variant NM_004999.4(MYO6):c.2175A>G (p.Lys725=)

gnomAD frequency: 0.00088  dbSNP: rs116571790
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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 RCV000615258 SCV000711150 likely benign not specified 2012-04-30 criteria provided, single submitter clinical testing p.Lys725Lys in Exon 21 of MYO6: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 0.2% (25/10396) of A frican American chromosomes by the Exome Aggregation Consortium (ExAC, http://ex; dbSNP rs116571790).
GeneDx RCV001546250 SCV001765741 likely benign not provided 2021-03-01 criteria provided, single submitter clinical testing
Invitae RCV001546250 SCV002433681 benign not provided 2023-11-19 criteria provided, single submitter clinical testing

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