ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.6257C>A (p.Thr2086Asn) (rs149202379)

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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 RCV000155406 SCV000205093 benign not specified 2012-05-07 criteria provided, single submitter clinical testing Thr2086Asn in Exon 32 of USH2A: This variant is not expected to have clinical si gnificance because it has been identified in 0.3% (24/7020) of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://; dbSNP rs149202379).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000155406 SCV000229588 benign not specified 2015-01-27 criteria provided, single submitter clinical testing
Invitae RCV000954226 SCV001100845 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000954226 SCV001147673 uncertain significance not provided 2016-05-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000155406 SCV001157508 benign not specified 2018-08-29 criteria provided, single submitter clinical testing
GeneDx RCV000155406 SCV000730471 benign not specified 2017-08-10 no assertion criteria provided 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.

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