ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.6713A>C (p.Glu2238Ala) (rs41277212)

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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 RCV000041894 SCV000065590 benign not specified 2009-06-24 criteria provided, single submitter clinical testing
GeneDx RCV000041894 SCV000169747 benign not specified 2011-08-01 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.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000041894 SCV000229804 benign not specified 2015-01-23 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000041894 SCV000605541 benign not specified 2018-07-12 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000087012 SCV001146618 benign not provided 2018-12-06 criteria provided, single submitter clinical testing
NEI Ophthalmic Genomics Laboratory,National Institutes of Health RCV000087012 SCV000119265 not provided not provided no assertion provided not provided

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