ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.6363G>A (p.Thr2121=) (rs367738288)

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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,Partners HealthCare Personalized Medicine RCV000155241 SCV000204927 likely benign not specified 2015-11-25 criteria provided, single submitter clinical testing p.Thr2121Thr in exon 47 of MYO7A: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wit hin the splice consensus sequence. It has been identified in 9/18856 European c hromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute .org; dbSNP rs367738288).
GeneDx RCV000842733 SCV000984764 likely benign not provided 2018-05-11 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.

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