ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.5259G>A (p.Lys1753=) (rs370062187)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000036182 SCV000059834 likely benign not specified 2012-03-26 criteria provided, single submitter clinical testing Lys1753Lys in exon 38 of MYO7A: 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 0.25% (8/3248) of Af rican American chromosomes in a broad population by the NHLBI Exome sequencing p roject (
GeneDx RCV000036182 SCV000533510 likely benign not specified 2016-11-09 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Athena Diagnostics Inc RCV000712352 SCV000842826 likely benign not provided 2018-05-29 criteria provided, single submitter clinical testing
Invitae RCV000712352 SCV001062141 likely benign not provided 2019-02-28 criteria provided, single submitter clinical testing

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