ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.6614_6634dup (p.Met2205_Ser2211dup) (rs111033388)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000270443 SCV000204117 benign not specified 2016-05-28 criteria provided, single submitter clinical testing c.6614_6634dup (p.Met2205_Ser221dup) in exon49 of MYO7A: This variant is not exp ected to have clinical significance because it has been identified in 2% (73/340 2) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac .broadinstitute.org; dbSNP rs111033388).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000270443 SCV000336283 likely benign not specified 2015-12-21 criteria provided, single submitter clinical testing
GeneDx RCV000881565 SCV000714127 likely benign not provided 2021-05-15 criteria provided, single submitter clinical testing
Invitae RCV000881565 SCV001024751 benign not provided 2020-12-06 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000881565 SCV001797652 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics,Academic Medical Center RCV000881565 SCV001923982 likely benign not provided no assertion criteria provided clinical testing

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