ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.4886-12C>T

gnomAD frequency: 0.00006  dbSNP: rs199823130
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Total submissions: 4
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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 RCV000611842 SCV000711241 likely benign not specified 2017-07-20 criteria provided, single submitter clinical testing c.4886-12C>T in intron 23 of USH2A: This variant is not expected to have clinica l significance because a C>T change at this position does not diverge from the s plice consensus sequence and is therefore unlikely to impact splicing. It has be en identified in 6/18800 East Asian and 6/23898 African chromosomes by the Genom e Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs199823 130).
Invitae RCV002532736 SCV003460311 likely benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446176 SCV004172134 likely benign Retinitis pigmentosa 39 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446175 SCV004172135 likely benign Usher syndrome type 2A 2023-04-11 criteria provided, single submitter clinical testing

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