ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.9342TGT[1] (p.Val3116del)

dbSNP: rs536788112
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000305528 SCV000332800 benign not specified 2015-07-28 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000365494 SCV000464387 uncertain significance Retinitis Pigmentosa, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Counsyl RCV000672667 SCV000797796 likely benign Retinitis pigmentosa 25 2018-02-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000961738 SCV001108791 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV000672667 SCV002083450 benign Retinitis pigmentosa 25 2020-07-31 no assertion criteria provided clinical testing

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