ClinVar Miner

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

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Total submissions: 10
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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 RCV000087012 SCV000169747 benign not provided 2018-12-20 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 21569298, 17085681, 27884173, 23591405)
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 RCV001283066 SCV000605541 benign none provided 2020-04-30 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000087012 SCV001146618 benign not provided 2018-12-06 criteria provided, single submitter clinical testing
Invitae RCV000087012 SCV001719830 benign not provided 2020-12-06 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001274251 SCV001737356 benign Usher syndrome, type 2A 2021-06-10 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
Natera, Inc. RCV001274251 SCV001458131 benign Usher syndrome, type 2A 2020-09-16 no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000041894 SCV001959062 benign not specified no assertion criteria provided clinical testing

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