ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.8760G>A (p.Thr2920=)

gnomAD frequency: 0.00010  dbSNP: rs200525258
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000926752 SCV001072315 benign not provided 2024-12-31 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003890074 SCV004707920 likely benign Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Natera, Inc. RCV001276966 SCV001463659 likely benign Usher syndrome type 2A 2020-05-01 no assertion criteria provided clinical testing

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