ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.12743A>G (p.His4248Arg)

dbSNP: rs145830318
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Total submissions: 11
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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 RCV000041730 SCV000065426 benign not specified 2012-05-15 criteria provided, single submitter clinical testing His4248Arg in Exon 63 of USH2A: This variant is not expected to have clinical si gnificance because it has been identified in 1.7% (65/3738) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs145830318).
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756886 SCV000884854 benign not provided 2017-12-12 criteria provided, single submitter clinical testing
GeneDx RCV000756886 SCV000981072 benign not provided 2019-09-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000756886 SCV001105408 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000756886 SCV001146599 benign not provided 2019-02-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002504922 SCV002812387 likely benign Usher syndrome type 2A; Retinitis pigmentosa 39 2021-09-27 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003450769 SCV004181948 likely benign Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001826589 SCV004181949 likely benign Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000041730 SCV001919213 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000041730 SCV001969742 benign not specified no assertion criteria provided clinical testing
Natera, Inc. RCV001826589 SCV002088291 benign Usher syndrome type 2A 2019-12-10 no assertion criteria provided clinical testing

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