ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.12597T>C (p.Ala4199=)

gnomAD frequency: 0.00006  dbSNP: rs202172029
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000941855 SCV001087757 benign not provided 2024-01-27 criteria provided, single submitter clinical testing
GeneDx RCV000941855 SCV001849053 likely benign not provided 2020-10-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003454967 SCV004181976 benign Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001832160 SCV004181977 benign Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV001832160 SCV002088295 likely benign Usher syndrome type 2A 2020-01-16 no assertion criteria provided clinical testing

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