ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.6639A>G (p.Lys2213=)

dbSNP: rs1487136272
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001172228 SCV001335223 likely benign not provided 2020-02-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001172228 SCV002989735 likely benign not provided 2023-12-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003449564 SCV004181637 likely benign Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003449563 SCV004181638 likely benign Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing

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