ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.5572+15G>A

gnomAD frequency: 0.01200  dbSNP: rs17026052
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Total submissions: 7
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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 RCV000041860 SCV000065556 benign not specified 2012-05-07 criteria provided, single submitter clinical testing 5572+15G>A in Intron 27 of USH2A: This variant is not expected to have clinical significance because it is not located within the conserved splice consensus seq uence and has been identified in 3.8% (142/3738) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.wa shington.edu/EVS; dbSNP rs17026052).
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001509713 SCV001477665 benign not provided 2022-03-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001509713 SCV001716564 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001509713 SCV001867156 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002496666 SCV002805246 benign Usher syndrome type 2A; Retinitis pigmentosa 39 2021-09-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003445124 SCV004172121 benign Retinitis pigmentosa 39 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003445123 SCV004172123 benign Usher syndrome type 2A 2023-04-11 criteria provided, single submitter clinical testing

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