ClinVar Miner

Submissions for variant NM_000329.2(RPE65):c.304G>T (p.Glu102Ter) (rs62642584)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000085192 SCV000574761 likely pathogenic not provided 2016-10-31 criteria provided, single submitter clinical testing
Fulgent Genetics RCV000763389 SCV000894093 pathogenic Leber congenital amaurosis 2; Retinitis pigmentosa 20 2018-10-31 criteria provided, single submitter clinical testing
Retina International RCV000085192 SCV000117329 not provided not provided no assertion provided not provided

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