ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.4810G>A (p.Asp1604Asn)

gnomAD frequency: 0.00001  dbSNP: rs775241651
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665436 SCV000789561 uncertain significance Usher syndrome type 2A; Retinitis pigmentosa 39 2017-02-14 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001073625 SCV001239176 uncertain significance Retinal dystrophy 2019-07-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003451640 SCV004181873 uncertain significance Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003451639 SCV004182200 uncertain significance Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing

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