ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.5324T>C (p.Ile1775Thr) (rs115123584)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000177929 SCV000229891 likely benign not specified 2015-06-04 criteria provided, single submitter clinical testing
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.
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 si gnificance because it has been identified in 0.8% (143/16558) of African chromos omes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.or g; dbSNP rs115123584).
GeneDx RCV000430461 SCV000728037 likely benign not provided 2020-10-26 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 19375528)
Invitae RCV000430461 SCV001032615 likely benign not provided 2020-12-04 criteria provided, single submitter clinical testing
Clinical Genetics,Academic Medical Center RCV000430461 SCV001919698 likely benign not provided no assertion criteria provided clinical testing

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