ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.10059G>A (p.Pro3353=)

gnomAD frequency: 0.00011  dbSNP: rs147842359
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000909426 SCV001054229 likely benign not provided 2024-01-25 criteria provided, single submitter clinical testing
GeneDx RCV000909426 SCV001778557 likely benign not provided 2020-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003454946 SCV004182604 likely benign Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001276951 SCV004182605 likely benign Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276951 SCV001463644 uncertain significance Usher syndrome type 2A 2020-01-17 no assertion criteria provided clinical testing

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