ClinVar Miner

Submissions for variant NM_020461.4(TUBGCP6):c.4129A>G (p.Thr1377Ala) (rs11703226)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001514156 SCV001721936 benign not provided 2020-12-04 criteria provided, single submitter clinical testing
GeneDx RCV001514156 SCV001758041 benign not provided 2018-07-26 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000599800 SCV000734133 benign Microcephaly and chorioretinopathy, autosomal recessive, 1 no assertion criteria provided clinical testing

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