ClinVar Miner

Submissions for variant NM_000260.3(MYO7A):c.5324T>C (p.Ile1775Thr) (rs115123584)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000430461 SCV000511266 likely benign not provided 2016-07-22 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000177929 SCV000229891 likely benign not specified 2015-06-04 criteria provided, single submitter clinical testing
GeneDx RCV000177929 SCV000728037 likely benign not specified 2018-03-12 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.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000177929 SCV000711163 benign not specified 2017-11-27 criteria provided, single submitter clinical testing Ile1775Thr in Exon 38 of MYO7A: This variant is not expected to have clinical significance because it has been identified in 0.8% (143/16558) of African chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs115123584).

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