ClinVar Miner

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

gnomAD frequency: 0.00369  dbSNP: rs149202379
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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, Mass General Brigham 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 ://evs.gs.washington.edu/EVS; dbSNP rs149202379).
Eurofins Ntd Llc (ga) RCV000155406 SCV000229588 benign not specified 2015-01-27 criteria provided, single submitter clinical testing
GeneDx RCV000155406 SCV000730471 benign not specified 2017-08-10 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.
Invitae RCV000954226 SCV001100845 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000954226 SCV001147673 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing USH2A: BP4
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000954226 SCV001157508 benign not provided 2023-11-29 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001449589 SCV001652741 likely benign Usher syndrome type 2A 2021-05-18 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000155406 SCV001918815 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000954226 SCV001973993 likely benign not provided no assertion criteria provided clinical testing

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