ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.10398C>T (p.Leu3466=)

dbSNP: rs563370514
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001394196 SCV001595878 likely benign not provided 2023-03-02 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001394196 SCV004125601 likely benign not provided 2022-06-01 criteria provided, single submitter clinical testing USH2A: BP4, BP7
Genome-Nilou Lab RCV003451699 SCV004182567 likely benign Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003451698 SCV004182568 likely benign Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing

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