ClinVar Miner

Submissions for variant NM_000329.3(RPE65):c.94+10G>A

gnomAD frequency: 0.00004  dbSNP: rs777879312
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000729049 SCV000856683 uncertain significance not provided 2017-09-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001468497 SCV001672551 likely benign Leber congenital amaurosis 2; Retinitis pigmentosa 20 2022-09-28 criteria provided, single submitter clinical testing
Natera, Inc. RCV001825450 SCV002092781 likely benign Leber congenital amaurosis 2020-08-18 no assertion criteria provided clinical testing

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