ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.9296A>G (p.Asn3099Ser) (rs41277194)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000041946 SCV000065642 benign not specified 2009-06-24 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000041946 SCV000230761 benign not specified 2014-05-27 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001282683 SCV000884841 benign none provided 2020-04-30 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000756877 SCV001146622 benign not provided 2019-02-11 criteria provided, single submitter clinical testing
Invitae RCV000756877 SCV001716544 benign not provided 2020-12-05 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001273705 SCV001750315 benign Usher syndrome, type 2A 2021-07-01 criteria provided, single submitter clinical testing
GeneDx RCV000756877 SCV001941378 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Natera, Inc. RCV001273705 SCV001457075 benign Usher syndrome, type 2A 2020-09-16 no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000041946 SCV001956573 benign not specified no assertion criteria provided clinical testing

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