ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.9992T>A (p.Met3331Lys)

gnomAD frequency: 0.00014  dbSNP: rs141452179
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001073240 SCV001238776 uncertain significance Retinal dystrophy 2018-08-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001226170 SCV001398472 likely benign not provided 2024-01-12 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003455307 SCV004182613 uncertain significance Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001833681 SCV004182614 uncertain significance Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV001833681 SCV002088374 uncertain significance Usher syndrome type 2A 2020-01-17 no assertion criteria provided clinical testing

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