ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.1600-10G>A

gnomAD frequency: 0.00008  dbSNP: rs111746102
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000931585 SCV001077254 likely benign not provided 2024-01-10 criteria provided, single submitter clinical testing
Natera, Inc. RCV001277013 SCV001463745 uncertain significance Retinitis pigmentosa 2020-04-17 no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001701364 SCV001917288 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000931585 SCV001967502 likely benign not provided no assertion criteria provided clinical testing

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